Books by Subject

all 237 titles

Genetics, Medical

  • Digital
    edited by Eleftheria Zeggini, Andrew Morris.
    Digital : ScienceDirect2011
    According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. This book will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research.
  • Digital
    edited by S. Ylä-Herttuala, V.J. Dzau.
    Digital : HighWire2004
    Print2004
  • Digital
    Stefan Grimm, editor.
    Digital : Springer2014
    Print2014
    "This book discusses the emergence of a new class of genes with a specific anticancer activity. These genes, recently defined as "Anticancer Genes", are reviewed in individual chapters on their mode of action, the specific cell death signals they induce, and the status of attempts to translate them into clinical application. Anticancer Genes provides an overview of this nascent field, its genesis, current state, and prospect. It discusses how Anticancer Genes might lead to the identification of a repertoire of signaling pathways directed against cellular alterations that are specific for tumor cells."--Publisher's website.
  • Digital
    edited by Kewal K. Jain.
    Digital : Springer Protocols2015
    An Overview of Methods Used in Neurogenomics and Their Applications -- Gene Expression-Based Approaches to Understanding Huntington{u2019}s Disease and New Tools for the Interpretation of Expression Datasets -- Location Analysis and Expression Profiling Using Next Generation Sequencing for Research in Neurodegenerative Diseases -- RNA Sequencing from Laser Capture Microdissected Brain Tissue to Study Normal Aging and Alzheimer{u2019}s Disease -- Targeted Re-Sequencing in Psychiatric Disorders -- Role of Neurogenomics in the Development of Personalized Neurology.
  • Digital
    [edited by] Harold Chen.
    Digital : Springer2012
  • Digital
    William L. Nyhan, Bruce A. Barshop, and Aida I. Al-Aqueel.
    Digital : ProQuest Ebook Central2012Limited to 3 simultaneous users
    Organic acidemias -- Disorders of amino acid metabolism -- Hyperammonemia and disorders of the urea cycle -- Disorders of fatty acid oxidation -- The lactic acidemias and mitochonrdial disease -- Disorders of carbohydrate metabolism -- Perioxisomal disorders -- Disorders of purine metabolism -- Disorders of transport and mineral metabolism -- Mucopolysaccharidoses -- Mucolipidoses -- Disorders of cholesterol and neutral lipid metabolism -- Lipid storage disorders -- Miscellaneous.
  • Digital
    Yoshiaki Ishigatsubo, editor.
    Digital : Springer2015
    This book, besides reviewing basic and clinical aspects of Behėt's disease, covers the latest findings, including genetic studies and treatment with biologics for the disease. Although the cause of Behėt's disease is still unknown, it is well known that genetic factors, such as HLA-B51, are involved in its development. Recently, novel susceptibility loci including IL10, IL23R-IL12RB2, and endoplasmic reticulum aminopeptidase 1 have been identified, providing new insights into the pathogenesis of the disease. In addition to basic research, the beneficial efficacy of anti-TNF-alpha monoclonal antibodies has also been suggested for not only uveitis associated with the disease but also other subtypes of the disease such as entero-, vasculo-, and neuro- Behėt's disease. Behėt's Disease: From Genetics to Therapies provides essential information both for basic researchers working in the fields of immunology, inflammation, and genetics, and for clinical physicians who are interested in Behėt's disease, such as ophthalmologists, rheumatologists, dermatologists, gastroenterologists, neurologists, and vascular surgeons.
  • Digital
    Thomas Liehr.
    Digital : ScienceDirect2014
    Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development. Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate. Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques.
  • Digital
    edited by Leonid Padyukov.
    Digital : ScienceDirect2014
    Between the Lines of Genetic Code lays out methodologies and tools for the measurement and evaluation of gene-gene and gene-environment studies and gives perspective on the future of this discipline. The book begins by defining terms for interaction studies, describing methodologies, and critically assessing the viability of current study designs and the possibilities for integrating designs. It then provides recent applications data with case studies in rheumatoid arthritis, multiple sclerosis, myositis and other complex human diseases. Last, it examines current studies and directions for future applications in patient care. Recent multivariate studies show that gene-gene and gene-environment interactions can explain significant variances in inheritance that have previously been undetectable in univariate analysis. These links among genes and between genes and their environments during the development of diseases may serve as important hints for understanding pathogenic mechanisms and for developing new tools for prognosis, diagnosis, and treatment of various diseases. Systematically integrates methods of defining and detecting gene interactions to provide an overview of the field. Critically analyzes current methods and tools to aid researchers in integrating gene interaction studies Includes examples of current biomedical applications and presents current research expected to shape clinical research in the near future.
  • Digital
    Christian Lenk, Judit Sándor, Bert Gordijn, editors.
    Digital : Springer2011
    Pt. I. Biobanks, tissue research and the public. Public trust and public bodies : the regulation of the use of human tissue for research in the United Kingdom / Julie Kent, Ruud ter Meulen -- Biobanks and research : scientific potential and regulatory challenge / Bernice S. Elger, Nikola Biller-Andorno -- A sense of entitlement : individual vs. public interest in human tissue / Nils Hoppe -- Social aspects of biobanking : beyond the public/private distinction and inside the relationship between the body and identity / Federico Neresini -- Pt. II. The rights of donors and patients. One sample, one share! A proposal to redress an inequity with equity / Jasper Adriaan Bovenberg -- Research on human biological materials : what consent is needed, and when / Eugenijus Gefenas, Vilius Dranseika, Asta Cekanauskaite, Jurate Serepkaite -- Reconsidering consent and biobanking / Emma Bullock, Heather Widdows -- What's wrong with forensic uses of biobanks? / Claudio Tamburrini -- Pt. III. Regulation of tissue research. A unified European approach on tissue research and biobanking? A comparison / Katharina Beier, Christian Lenk -- Ireland and the United Kingdom's approaches to regulation of research involving human tissue / Elizabeth Yuko, Adam McAuley, Bert Gordijn -- Legal and ethical aspects of biobanks for research in the European-Mediterranean area / Renzo Pegoraro, Allesandra Bernardi, Fabrizio Turoldo -- The circulation of human body parts and products : when exclusive property rights mask the issue of access / Florence Bellivier, Christine Noiville -- Anonymity and privacy in biobanking / Judit Sándor, Petra Bárd.
  • Print
    Golder N. Wilson ; cytogenetic contribution by Vijay Tonk.
    Print2013
    Status: Not Checked OutLane Catalog Record
  • Print
    Golder N. Wilson.
    Print2007
    Status: Not Checked OutLane Catalog Record
  • Print
    Golder N. Wilson.
    Print2010
    Status: Not Checked OutLane Catalog Record
    High Yield Facts -- DNA Structure, Replication and Repair -- Gene Expression and Regulation -- Acid-base equilibria, amino acids, and protein structure -- Protein Structure/Function -- Carbohydrate Metabolism -- Bioenergetics and Energy Metabolism -- Lipid, Amino Acid and Nucleotide Metabolism -- Vitamins and Minerals -- Hormones and Integrated Metabolism -- Inheritance Mechanisms/Risk Calculations -- Genetic and Biochemical Diagnosis.
  • Print
    by Barry R. Furrow, Professor of Law and Director, Health Law Program, Drexel University; Thomas L. Greaney, Chester A. Myers Professor of Law and Co-Director, Center for Health Law Studies, Saint Louis University; Sandra H. Johnson, Professor Emerita of Law and Health Care Ethics, Center for Health Law Studies, Saint Louis University School of Law; Timothy Stolzfus Jost, Robert L. Willett Family Professor of Law, Washington and Lee University; Robert L. Schwartz, Senor Visiting Professor, University of California Hastings College of the Law, Weihofen Professor of Law Emeritus, University of New Mexico.
    Print2013
    An introduction to the study of ethics and ethical theories -- Reproduction and birth -- Legal issues in human genetics -- Organ transplantation and the determination of death -- Life and death decisions -- Medically assisted dying -- -- Regulation of research involving human subjects -- Population health and public health.
  • Digital
    Uttam Garg, Laurie D. Smith.
    Digital : ScienceDirect2017
  • Digital
    Ignacio Blanco.
    Digital : ScienceDirect2017
    Alpha-1 antitrypsin deficiency -- Serpins and serpinopathies -- Alpha-1 antitrypsin biology -- Alpha-1 antitrypsin gene, genetic heritage, phenotypes, and genotypes -- Alpha-1 antitrypsin deficiency -- Alpha-1 antitrypsin deficiency -- Genetic epidemiology -- Laboratory diagnosis -- Clinical diagnosis -- Liver disease associated with Alpha-1 antitrypsin deficiency -- Respiratory manifestations of the Alpha-1 antitrypsin deficiency -- Other diseases associated with Alpha-1 antitrypsin deficiency -- Clinical management and treatment of lung disease -- Registries and patients' associations -- Current research and future perspectives.
  • Digital
    Arturas Petronis, Jonathan Mill editors.
    Digital : Springer2011
    1. Posttranslational histone modifications and the neurobiology of psychosis -- 2. Epigenetic regulation of GABAergic targets in psychiatry -- 3. Possible roles of DNA methylation in bipolar disorder -- 4. The epigenetics of depression and suicide -- 5. Epidemiology research adn epigenetics: translational epidemiology of schizophrenia -- 6. Environmental studies as a tool for detecting epigenetic mechanisms in schizophrenia -- 7. Imprinting, inactivation and the behavioural genetics of the X chromosomes -- 8. The strategies of the genes: genomic conflicts, attachment theory, and development of the social brain -- 9. Genomic imprinting effects on brain and behavior: future directions -- 10. Epigenetic influence of the social environment -- 11. Toward an understanding of the dynamic interdependence of genes and environment in the regulation of phenotype -- 12. Histone deacetylase inhibitors: a novel therapeutic approach for cognitive disorders -- 13. Epigenetic mechanisms of memory consolidation -- 14. Epigenetic methanisms in memory formation.
  • Digital
    Kevin M. Sweet, Ron C. Michaelis.
    Digital : Springer2011
    1. Genetic variability provides the biochemical basis for our individuality, including differences in our susceptibility to many common diseases -- 2. Making the most of family history information, single gene disorders and Mendelian patterns of inheritance, and when to refer to a genetic specialist -- 3. Types of genetic tests and issues associated with the interpretation of their results -- 4. Toward the safer and more effective use of prescription drugs: pharmacogenetics -- 5. Taking a personalized medicine approach to breast and colon cancer -- 6. Personalized risk assessments and treatments for complex cardiovascular disease -- 7. Other multifactorial disorders for which genetic/genomic testing is providing insights -- Epilogue and list of resources.
  • Digital
    Boris Pasche, editor.
    Digital : Springer2010
    Print2010
  • Digital
    Andrei Thomas-Tikhonenko, editor.
    Digital : Springer2010
  • Digital
    edited by Jun Zhang and Gregg Rokosh.
    Digital : Springer Protocols2007
  • Digital
    Stacey Ellen Wirt.
    Digital2010
    The ability of stem/progenitor cells to exit the cell cycle is essential for proper embryonic development, but the mechanisms governing cell cycle exit are still not fully understood. Correct regulation of G1 is critical for ensuring proper organismal development, tissue homeostasis, and tumor suppression. The Retinoblastoma (Rb) gene family is composed of three genes, Rb, p107, and p130, which are collectively thought to serve as essential regulators of the G1 phase of the cell cycle in most proliferating cell types. The Rb family has also been implicated in promoting the gene expression of several differentiation programs in different cell lineages. However, due to the overlapping and compensatory functions among the Rb family members, a complete understanding of how the Rb family controls the cell cycle and differentiation programs within a cell remains unclear. Furthermore, it has not yet been tested whether the Rb family members are the only mediators of these cellular processes, or if there are alternative mechanisms for cell cycle exit and differentiation in mammalian stem and progenitor cells. Here we tested the requirement for the Rb protein and its family members p107 and p130 in G1 arrest and differentiation in mammalian cells. We employed several strategies to conditionally remove the Rb family genes in entire embryos and in specific neural lineages, as well as multiple differentiation systems in vitro. We found that Rb family triple knock-out (TKO) mouse embryos survive until days 9-11 of gestation, with similar patterning and organogenesis as seen in wild type embryos. Strikingly, a number of TKO cells, including in the neural lineage, are able to exit the cell cycle in G1 and fully differentiate in vivo and in culture. This ability of TKO cells to arrest in G1 is associated with the repression of key cell cycle target genes for E2F and Myc transcription factors. Thus, G1 arrest can be achieved independently of Rb family members, illustrating the robustness of cell cycle regulatory networks during embryogenesis, and identifying a novel program that regulates cell cycle exit in G1 in mammalian cells.
  • Digital
    Alyssa Christine Snider.
    Digital2010
    Early embryonic cell types such as the zygote, blastomeres of the preimplantation embryo, and embryonic stem (ES) cells have powerful chromatin remodeling activities that facilitate DNA-dependent processes such as transcription and DNA repair. Chd1l encodes a chromatin remodeling factor and is more highly expressed in the inner cell mass (ICM) compared to the whole blastocyst. Chd1l expression is developmentally regulated during a time course of preimplantation development and is present in ES cells. Intriguing expression patterns suggested Chd1l could be a novel regulator of DNA-dependent processes in early developmental cell types. This dissertation describes research undertaken to address the role of Chd1l in chromatin remodeling in the preimplantation embryo and in ES cells. Reducing Chd1l protein to nearly undetectable levels in ES cells reveals that Chd1l is dispensable for ES cell viability, proliferation, and pluripotent morphology. Global gene expression patterns are unaltered by Chd1l knock-down. Chd1l is also dispensable for expression patterns of lineage markers associated with the formation of the primary germ layers in differentiating embryoid bodies. Zygote-stage embryos injected with Chd1l-MO arrest prior to the morula stage. Knock-down by the MO was confirmed at the transcript levels by microfluidic qPCR, and the arrest phenotype was partially rescued upon co-injection of Chd1l mRNA and Chd1l-MO. ES cells are known to have stringent and unique pathways to repair DNA damage to prevent mutation and genomic instability from arising in the organism. Reduction of Chd1l in ES cells confers resistance to induced DNA damage, a finding that contrasts with another study that used a differentiated cell line. Apoptosis induced by over-expression of Chd1l occurs specifically in ES cells and not in their differentiated counterparts. This switch in the effect of Chd1l over-expression during differentiation suggests that the function of Chd1l is very different in ES cells than in differentiated somatic cells. DNA repair through non-homologous end joining (NHEJ) is particularly critical in the zygote to repair the paternal genome. Differentiated somatic cells, but not ES cells also rely heavily on NHEJ. Biochemical evidence supports the involvement of Chd1l in NHEJ. Deficient DNA repair could underlie the Chd1l arrest phenotype. Therefore, Chd1l functions minimally, or not at all, in regulating gene expression and contributes to the DNA damage response in a developmental stage-specific and/or cell type-specific manner.
  • Digital
    Günter Obe, Vijayalaxmi, (editors).
    Digital : Springer2007
  • Digital
    David Rasnick.
    Digital : CRCnetBASE2012
    1. Introducing Cancer -- 2. Boveri's theory of cancer was ahead of its time -- 3. Genesis of "The enemy within"? -- 4. Gene mutation theory of cancer -- 5. The chromosomal imbalance theory of cancer -- 6. Theory of chromosomal imbalance solves mysteries and paradoxes -- 7. New perspectives for cancer prevention, diagnosis and therapy.
  • Digital
    B. Michael Ghadimi, Thomas Ried, editors.
    Digital : Springer2015
    DNA repair and chromosomal translocations -- CINcere modelling: what have mouse models for chromosome instability taught us? -- Telomere dysfunction, chromosomal instability and cancer -- Genetic instability and disease progostication -- Causes of chromosomal instability -- Patterns of chromosomal aberrations in solid tumors -- Yeast as models of mitotic fidelty -- The diverse effects of complex chromosome rearrangements and chromothripsis in cancer development -- Consequence of aneuploidy in cancer: transcriptome and beyond.
  • Digital
    edited by Nobuyoshi Kosaka.
    Digital : Springer Protocols2013
    Functional analysis of exosomal microRNA in cell-cell communication research / Nobuyoshi Kosaka [and others] -- Isolation of extracellular nanovesicle microRNA from liver cancer cells in culture / Takayuki Kogure and Tushar Patel -- Methods of analysis of dendritic cell-derived exosome-shuttle microRNA and its horizontal propagation between dendritic cells / Angela Montecalvo, Adriana T. Larregina, and Adrian E. Morelli -- Analysis of microRNA and protein transfer by exosomes during an immune synapse / Carolina Villarroya-Beltri -- Analysis of viral microRNA exchange via exosomes in vitro and in vivo / Frederik J. Verweij [and others] -- Measurement of precursor miRNA in exosomes from human ESC-cerived mesenchymal stem cells / Tian Sheng Chen and Sai Kiang Lim -- Analysis of the transfer of circulating microRNA between cells mediated by gap junction / Steven J. Greco and Pranela Rameshwar -- Isolation of circulating microRNA associated with RNA-binding protein / Andrey Turchinovich, Ludmila Weiz, and Barbara Burwinkel -- Identification and analysis of circulating exosomal microRNA in human body fluids / Cecilia Lässer -- Analyzing the circulating microRNAs in exosomes/extracellular vesicles from serum or plasma by qRT-PCR / Leni Moldovan [and others] -- Direct serum assay for microRNA in cancer patients / Sota Asaga and Dave S.B. Hoon -- Analysis of microRNA niches : techniques to measure extracellular microRNA and intracellular microRNA in situ / Victoria N. Parikh and Stephen Y. Chan -- Analysis of circulating microRNA by microarray in liver disease / Yoshiki Murakami and Toshihito Tanahashi -- Isolation of circulating microRNA in saliva / Alessia Gallo and Ilias Alevizos -- Purification of RNA from milk whey / Hirohisa Izumi [and others] -- Circulating microRNAs in the cerebrospinal fluid of patients with brain diseases / Akira Machida, Takuya Ohkubo, and Takanori Yokota -- Methods of microRNA quantification in urinary sediment / Gang Wang and Cheuk Chun Szeto -- Circulating microRNA for the identification of forensically relevant body fluids / Erin K. Hanson and Jack Ballantyne -- Identification of prostate cancer-associated microRNAs in circulation using a mouse model of disease / Luke A. Selth [and others] -- Combination of extraction reagent and DNA microarray that allows for the detection of global miRNA profiles from serum/plasma / Makiko Ichikawa and Hideo Akiyama -- Nanopore single-molecule detection of circulating microRNAs / Li-Qun Gu and Yong Wang.
  • Digital
    edited by Claudio Carini, Sandeep Menon, Mark Chang.
    Digital : CRCnetBASE2014
    "The successful utilization of biomarkers in clinical development and, indeed, realization of personalized medicine require a close collaboration among different stakeholders: clinicians, biostatisticians, regulators, commercial colleagues, and so on. For this reason, we invited experts from different fields of expertise to address the opportunities and challenges, and discuss recent advancements related to biomarkers and their translation into clinical development. The first four chapters discuss biomarker development from a clinical perspective ranging from introduction to biomarkers to recent advances in RNAi screens, epigenetics, and rare disease as targets for personalized medicine approaches. Chapters 5 through 10 are devoted to considerations from a statistical perspective, and the last chapter addresses the regulatory issues in biomarker utilization. A biomarker is a characteristic that can be objectively measured and evaluated as an indicator of a physiological as well as pathological process or response to a therapeutic intervention. Although there is nothing new about biomarkers such as glucose for diabetes and blood pressure for hypertension, the current focus on molecular biomarkers has taken the center stage in the development of molecular medicine. Molecular diagnostic technologies have enabled the discovery of molecular biomarkers and are assisting in the definition of the pathogenic mechanism of diseases. Biomarkers represent the basis of the development of diagnostic assays as well as the target for drug discovery. Biomarkers can help monitoring drugs effect in clinical trials as well as in clinical practice"-- Provided by publisher.
  • Digital
    edited by E.M. Jones and E.M. Tansey.
    Digital : Wellcome Trust2012
    Transcript / edited by E M Jones and E M Tansey -- Appendix 1. Timeline for UK Clinical Cancer Genetics Groups -- Appendix 2. Archival material from St Mark's Polyposis Registry -- Register cards / interpreted by Ms Kay Neale -- Letter from Dr C Dukes to Dr J C Burne -- Adaptation of poem, You Are Old Father William / by Dr C Dukes -- Obituary for Dr H J R Bussey / by Basil Morson -- Appendix 3. Pedigree of a Newfoundland family, 'Family C', with HNPCC -- Appendix 4. -- Cancer Genetics: a personal view / Professor David Harnden -- Glossary -- Biographical notes.
  • Digital
    H.F. Baars, J.J. van der Smagt, P. Doevandans.
    Digital : Springer2011
    Introduction to molecular genetics -- Clinical genetics -- Hypertrophic cardiomyopathy -- Familial dilated cardiomyopathy -- Arrhythmogenic right ventricular dysplasia/cardiomyopathy from desmosome to disease -- Noncompaction cardiomyopathy -- Mitochondrial cardiomyopathy -- Restrictive cardiomyopathy -- Congenital long QT-syndrome -- The Brugada syndrome -- Short QT syndrome -- Catecholaminergic polymorphic ventricular tachycardia -- A molecular genetic perspective on atrial fibrillation -- Idiopathic ventricular fibrillation -- The genetics of mitral valve prolapse -- Atrioventricular (AV) reentry tachycardia -- Hereditary cardiac conduction diseases -- Connective tissue disorders and smooth muscle disorders in cardiology -- Genetics of congenital heart defects -- Genetic disorders of the lipoprotein metabolism: diagnosis and management -- Novel insights into genetics of arterial thrombosis -- The pharmacogenetics of atherosclerosis -- Genetics of (premature) coronary artery disease -- Heredity neuromuscular diseases and cardiac involvement -- Sudden cardiac death in the young: epidemiology and cardiogenetic evaluation of victims and their relatives -- The outpatient clinics for cardiogenetics -- Abdominal aortic aneurysm -- Future of cardiogenetics.
  • Digital
    Hubert F. Baars, Pieter A.F.M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors.
    Digital : Springer2016
    This practical cardiogenetic reference is for those who are involved in the care for cardiac patients with a genetic disease. It contains detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.
  • Digital
    edited by P.S. Harper, L.A. Reynolds and E.M. Tansey.
    Digital : Wellcome Trust2010
  • Digital
    edited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD.
    Digital : ScienceDirect2015
    Overview of technical aspects and chemistries of next-generation sequencing / Ian S. Hagemann -- Clinical genome sequencing / Tina M. Hambuch, John Mayfield, Shankar Ajay, Michelle Hogue, Carri-Lyn Mead and Erica Ramos -- Targeted hybrid capture methods / Elizabeth C. Chastain -- Amplification-based methods / Marina N. Nikiforova, William A. Laframboise and Yuri E. Nikiforov -- Emerging DNA sequencing technologies / Shashikant Kulkarni and John Pfeifer -- RNA-sequencing and methylome analysis / Shamika Ketkar and Shashikant Kulkarni -- Base calling, read mapping, and coverage analysis / Paul Cliften -- Single nucleotide variant detection using next generation sequencing / David H. Spencer, Bin Zhang and John Pfeifer -- Insertions and deletions (indels) / Jennifer K. Sehn -- Translocation detection using next-generation sequencing / Haley Abel, John Pfeifer and Eric Duncavage -- Copy number variant detection using next-generation sequencing / Alex Nord, Stephen J. Salipante and Colin Pritchard -- Reference databases for disease associations / Wendy S. Rubinstein, Deanna M. Church and Donna R. Maglott -- Reporting of clinical genomics test results / Kristina A. Roberts, Rong Mao, Brendan D. O'Fallon and Elaine Lyon -- Reporting software / Rakesh Nagarajan -- Constitutional diseases: amplification-based next-generation sequencing / Vanessa L. Horner and Madhuri R. Hegde -- Targeted hybrid capture for inherited disease panels / Sami S. Amr and Birgit Funke -- Constitutional disorders: whole exome and whole genome sequencing / Benjamin D. Solomon -- Somatic diseases (cancer): amplification-based next-generation sequencing / Fengqi Chang, Geoffrey L. Liu, Cindy J. Liu and Marilyn M. Li -- Targeted hybrid capture for somatic mutation detection in the clinic / Catherine E. Cottrell, Andrew J. Bredemeyer and Hussam Al-Kateb -- Somatic diseases (cancer): whole exome and whole genome sequencing / Jennifer K. Sehn -- Assay validation / Amy S. Gargis, Lisa Kalman and Ira M. Lubin -- Regulatory considerations related to clinical next generation sequencing / Shashikant Kulkarni and John Pfeifer -- Genomic reference materials for clinical applications / Justin Zook and Marc Salit -- Ethical challenges to next-generation sequencing / Stephanie Solomon -- Legal issues / Roger D. Klein -- Billing and reimbursement / Kris Rickhoff, Andrew Drury and John Pfeifer.
  • Digital
    editors, Michael F. Murray, Mark W. Babyatsky, Monica A. Giovanni ; associate editors, Fowzan S. Alkuraya, Douglas R. Stewart.
    Digital2014
    The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
  • Digital
    Eberhard Passarge.
    Digital : Thieme Book2013
    Introduction -- Chronology -- Fundamentals -- Prologue -- Molecular basis of genetics -- Analysis of DNA -- Variability of DNA -- Processing of DNA -- Eukaryotic cells -- Formal genetics -- Chromosomes -- Regulation of gene function -- Epigenetic modifications -- Genetic signal pathways -- Genes in embryonic development -- Genomics -- Genetics and medicine -- Imbalanced homeostasis -- Metabolic disorders -- Immune system -- Origins of cancer -- Impaired cell and tissue structure -- Hemoglobin disorders -- Sex determination and differentiation -- Atypical patternns of genetic transmission -- Sensory perception -- Karyotype-phenotype relationnship -- A grief guide to genetic diagnosis -- Morbid anatomy of the human genome - chromosomal locations - alphabetic list -- Appendix -- Supplementary data.
  • Digital
    Eberhard Passarge.
    Digital : Thieme Book2007
    Print2007
  • Digital
    Peter C. Hindmarsh, Kathy Geertsma.
    Digital : ScienceDirect2017
    Introduction -- Section one. Congenital adrenal hyperplasia, introduction -- Section two. When things go wrong in congenital adrenal hyperplasia -- Section three. Treatment for congenital adrenal hyperplasia -- Appendix 1. Converting system international (SI) blood measures into North American values or conventional units -- Appendix 2. List of abbreviations -- Index.
  • Digital
    Jarrah Ali Al-Tubaikh, Maximilian F. Reiser.
    Digital : Springer2009
  • Print
    Heather Widdows.
    Print2013
    Currently, the ethics infrastructure -- from medical and scientific training to the scrutiny of ethics committees -- focuses on trying to reform informed consent to do a job which it is simply not capable of doing. Consent, or choice, is not an effective ethical tool in public ethics and is particularly problematic in the governance of genetics. Heather Widdows suggests using alternative and additional ethical tools and argues that if individuals are to flourish it is necessary to recognise and respect communal and public goods as well as individual goods. To do this she suggests a two-step process -- the 'ethical toolbox'. First the harms and goods of the particular situation are assessed and then appropriate practices are put in place to protect goods and prevent harms. This debate speaks to core concerns of contemporary public ethics and suggests a means to identify and prioritise public and common goods. -- [Publisher-supplied data]
  • Digital
    Tiara Lynn Aiko Kawahara.
    Digital2010
    Aging is a degenerative process accompanied by tissue deterioration, decline in function and increased susceptibility to disease. It is now understood to be a genetically and environmentally regulated process, rather than simply the result of wear and tear. We developed a systematic approach to identify combinatorial cis-regulatory motifs that drive age-dependent gene expression across different tissues and organisms, and identified the transcription factor NF-[kappa]B as a candidate regulator of aging. Using multiple independent models, we show a role for NF-[kappa]B in regulating transcriptional programs of aging. First, we found that aged mice subjected to NF-[kappa]B blockade for two weeks exhibit reversion of the tissue characteristics and global gene expression programs to those of young mice. Next, we detected deregulated transcriptional activity of NF-[kappa]B in Sirt6-deficient mice, which exhibit premature aging-like symptoms. We show that Sirt6 interacts with the NF-[kappa]B RelA subunit and deacetylates histone H3 lysine 9 (H3K9) at NF-[kappa]B target gene promoters. Computational genomics analyses revealed increased activity of NF-[kappa]B-driven gene expression programs in multiple Sirt6-deficient tissues in vivo. Moreover, haploinsufficiency of RelA rescues the early lethality and degenerative syndrome of Sirt6-deficient mice, suggesting that hyperactive NF-[kappa]B-dependent transcription in the absence of Sirt6 promotes premature aging-like syndromes. Finally, we performed a genome-scale survey of RelA and Sirt6 location on chromatin in mouse embryonic fibroblasts (MEFs) via chromatin immunoprecipiation (ChIP)-on-chip to understand to what extent Sirt6 and RelA act coordinately to regulate gene expression. These results indicate that RelA and Sirt6 co-occupy the promoters of a large population of genes at sites less than 500kb apart and/or require RelA to enable binding of Sirt6. Expression analysis of these shared targets reveals direct regulation of 301 promoters, including genes such as Shc1 (encoding p66), Cdkn2a (encoding p16), Wnt2 and Jmjd3, which have been separately implicated in the aging process. We propose that hyperactive NF-[kappa]B signaling contributes to premature and normal aging.
  • Digital
    Volume Editors, Maximilian Muenke, Wolfram Kress, Hartmut Collmann, Benjamin Solomon.
    Digital : Karger2011
    Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis and treatment have been achieved including improved prenatal imaging technology and craniofacial surgical techniques as well as condition-specific care in specialized hospitals and clinical units. This book represents a comprehensive overview on the subject of craniosynostosis. Its 19 excellent chapters were written by the foremost authorities in the field for a wide range of readers. They cover topics including a historical review, basic biological and molecular studies, the various common and uncommon syndromes, nonsyndromic craniosynostoses, genetic testing, prenatal ultrasonography, and recent methods of neurosurgical and maxillofacial treatment. Both investigators at the bench and clinicians at the operating table will appreciate this timely book which will be the definitive volume on craniosynostosis for many years to come.
  • Print
    opus a Luigi Gedda una cum aliis auctoibus.
    Status: Not Checked OutLane Catalog Record
  • Digital
    Agnès Bloch-Zupan, Heddie O. Sedano, Crispian Scully.
    Digital : ScienceDirect2012
  • Digital
    Antonio Russo, Stefano Iacobelli, Juan Iovanna, editors.
    Digital : Springer2012
    1. Gene Signatures and Soft Tissue Sarcomas: Status of Art and Perspectives / Bruno Vincenzi, Anna Maria Frezza, Daniele Santini, and Giuseppe Tonini -- 2. Heterogeneity of Breast Cancer: Gene Signatures and Beyond / Gaia Schiavon, Marcel Smid, Gaorav P. Gupta, Stefania Redana, Daniele Santini, and John W.M. Martens -- 3. Gene Signatures in CRC and Liver Metastasis / Daniele Fanale, Lidia Corsini, Sergio Rizzo, and Antonio Russo -- 4. Gene Signatures in Gastrointestinal Stromal Tumors / Piotr Rutkowski, Giuseppe Badalamenti, Laura La Paglia, Joanna Przybył, and Maria Debiec-Rychter -- 5. Pancreatic Cancer Genetics / Juan Iovanna, Ezequiel Luis Calvo, Jean Charles Dagorn, and Nelson Dusetti -- 6. Diagnostic, Prognostic, and Therapeutic Value of Gene Signatures in Non-Small Cell Lung Cancer / Rafael Rosell, Miquel Taron, Christian Diego Rolfo, Delvys Rodriguez-Abreu, and Jia Wei -- 7. Gene Signatures in Gastric Cancer / Laura Ottini, Mario Falchetti, and Gabriella Nesi -- 8. Gene Signatures in Colorectal Cancer / Alessandro Lugli and Inti Zlobec -- 9. The Role of Epigenetics in Cancer: From Molecular Function to High-Throughput Assays / Aleksandra Pekowska, Joaquin Zacarias-Cabeza, Jinsong Jia, Pierre Ferrier, and Salvatore Spicuglia -- 10. Primary Epithelial Ovarian Neoplasms: New Concepts Concerning Origin, Pathogenesis and Classification Based on Morphology, Immunomarkers, Molecular Features, and Gene Expression Studies / Bernard Czernobilsky, Leonor Leider-Trejo, Daniele Fanale, and Antonio Russo -- 11. Thyroid Carcinoma: Molecular Signature by Histotype-Specific Mutations and Gene Expression Patterns / Umberto Malapelle, Claudio Bellevicine, Lajos Pustzai, and Giancarlo Troncone.
  • Digital
    edited by Shamim I. Ahmad.
    Digital : Springer2010
    Print2010
    Triple A syndrome / Vijaya Sarathi and Nalini S. Shah -- Amyotrophic lateral sclerosis / J. Jefferson ... [et al.] -- Early onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1 / Masayoshi Tada ... [et al.] -- Clinical features and pathogenesis of Alzheimer's disease : involvement of mitochondria and mitochondrial DNA / Michelangelo Mancuso ... [et al.] -- Huntington's disease / Emmanuel Roze ... [et al.] -- Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA) / Masahisa Katsuno ... [et al.] -- Spinocerebellar ataxia with axonal neuropathy / Cheryl Walton ... [et al.] -- Tuberous sclerosis complex and DNA repair / Samy L. Habib -- Hereditary photodermatoses / Dennis H. Oh and Graciela Spivak -- Trichothiodystrophy : photosensitive, TTDP, TTD,Tay syndrome / W. Clark Lambert, Claude E. Gagna, and Muriel W. Lambert -- Cornelia De Lange syndrome / Jinglan Liu and Gareth Baynam -- Rectal cancer and importance of chemoradiation in the treatment / Sergio Huerta -- Familial cutaneous melanoma / Johan Hansson -- Primary immunodeficiency syndromes / Mary A. Slatter and Andrew R. Gennery -- Inherited defects of immunoglobulin class switch recombination / Sven Kracker, Pauline Gardøs, and Anne Durandy -- Ligase IV syndrome / Dimitry A. Chistiakov -- Muir-Torre syndrome / Pedro Mercader -- Wilms' tumor / Carlos H. Martinez, Sumit Dave, and Jonathan Izawa -- Cerebro-oculo-facio-skeletal syndrome / Hiroshi Suzumura and Osamu Arisaka -- Dyskeratosis congenita / Vineeta Gupta and Akash Kumar -- Retinoblastoma / Dietmar Lohmann -- Von Hippel Lindau syndrome / Jenny J. Kim, Brian I. Rini, and Donna E. Hansel.
  • Digital
    John M. Hutson, Garry L. Warne, Sonia R. Grover, editors.
    Digital : Springer2012
  • Digital
    Yuya Kobayashi.
    Digital2011
    Candidate gene based studies have identified a handful of aberrant CpG DNA methylation events in prostate cancer (Brooks et al. 1998; Yegnasubramanian et al. 2004). However, large scale DNA methylation profiles have not been examined for normal prostates or prostate tumors. Additionally, the mechanisms behind these DNA methylation alterations are unknown. In this thesis, I describe the results of my efforts to better understand these previously unexplored areas of biology. For the study presented in this thesis, I quantitatively profiled 95 primary prostate tumors and 86 healthy prostate tissue samples for their DNA methylation levels at 26,333 CpGs representing 14,104 gene promoters by using the Illumina HumanMethylation27 platform. When the profiles of the prostate tissue samples were compared, I observed a substantial number of tumor-specific DNA methylation alterations. A 2-class Significance Analysis of this dataset revealed 5,912 CpG sites with increased DNA methylation and 2,151 CpG sites with decreased DNA methylation in tumors (FDR < 0.8%). Prediction Analysis of this dataset identified 87 CpGs that are the most predictive diagnostic methylation biomarkers of prostate cancer. By integrating available clinical follow-up data, I also identified 69 prognostic DNA methylation alterations that correlate with biochemical recurrence of the tumor. To identify the mechanisms responsible for these genome-wide DNA methylation alterations, I measured the gene expression levels of several DNA methyltransferases (DNMTs) and their interacting proteins by TaqMan qPCR and observed increased expression of DNMT3A2, DNMT3B, and EZH2 in tumors. Subsequent transient transfection assays in cultured primary prostate cells revealed that DNMT3B1 and DNMT3B2 overexpression resulted in increased methylation of a substantial subset of CpG sites that also showed tumor-specific increased methylation.
  • Digital
    [edited by] Adayabalam S. Balajee.
    Digital : Springer2006
    Print2006
    Human premature aging disorders and dysfunction of DNA repair / Byungchan Ahn and Vilhelm A. Bohr -- DNA repair aspects for RecQ helicase disorders / Takehisa Matsumoto -- Trichothiodystrophy: a disorder highlighting the crosstalk between DNA repair and transcription / Miria Stefanini -- Roles of the BRCA1 and BRCA2 breast cancer susceptibility proteins in DNA repair / Katrin Gudmundsdottir, Emily Witt and Alan Ashworth -- Radiosensitivity of cells derived from Down syndrome patients: is defective DNA repair involved? / Adayapalam T. Natarajan -- The Fanconi anemia/BRCA pathway: FANCD2 at the crossroad between repair and checkpoint responses to DNA damage / Massimo Bogliolo and Jordi Surrallés -- Is ataxia telangiectasia a result of impaired coordination between DNA repair and cell cycle checkpoint regulators? / Adayabalam S. Balajee and Charles R. Geard -- Mechanisms of DNA damage and repair in Alzheimer disease / V. Prakash Reddy ... [et al.] -- Orchestration of telomeres and DNA repair factors in mammalian cells: implications for cancer and ageing / M. Prakash Hande -- Defective solar protection in xeroderma pigmentosum and Cockayne syndrome patients / Colette ApRhys and Daniel Judge.
  • Digital
    Vasilios Fragoulakis, Christina Mitropoulou, Marc S. Williams, George P. Patrinos.
    Digital : ScienceDirect2015
    Economic evaluation in health care: evidence-based medicine and evidence-based health economics -- Genomic medicine today: an introduction for health economists -- Economic evaluation and genomic medicine: what can they learn from each other? -- Introduction to the technical issues of economic evaluation -- Advanced methodological aspects in the economic evaluation -- Economic evaluation in the genomic era: some examples from the field -- Special requirements for economic evaluation and health technology assessment in genomic medicine -- A new methodological approach for cost-effectiveness analysis in genomic medicine -- Conclusions and future perspectives.
  • Digital
    Erik Corona.
    Digital2012
    In the last 100,000 years, humans have been subjected to multiple different evolutionary pressures. Migration events, changing food sources, climate change, and technological advances are some of the ways environmental changes have applied pressure on human populations to undergo change. Recent advances in methods to measure differences in DNA sequences have led to new powerful techniques to measure the effect of evolution on different human populations. Also due to the availability of recent explosion of genomic data, our understanding of genetic basis of human disease has grown significantly. However, our knowledge regarding the effect that recent evolution has had on the genetic susceptibility to disease has grown to a much lesser extent. There is a lack of studies attempting to place the genetic basis of disease in the context of recent evolutionary changes. I describe multiple ways in which recent evolutionary pressures on the human genome can lead to insights to understanding how evolution has impacted complex disease. I show that GWAS (Genome-Wide Association Studies) are particularly well suited to measure the effect of recent evolution in complex disease. I provide methodology to detect positive selection in human disease and are able to ascertain whether recent evolution has disproportionately increased or decreased the risk of inherited disease. In addition, I introduce a method to approximate when and where genetic risk differentiation for specific disease has occurred, starting when humans began migration out of Africa. Environmental changes in the last 10,000 years known to have created novel, diverse, and pervasive pathogens. I provide methodology to find positive selection in communicable disease. I identify populations that have most likely been severely impacted by specific pathogens in recent human history. I develop and apply methods to identify specific genetic variants important to both communicable and inherited disease that have been affected by evolutionary pressures. I find that type 1 diabetes has recently undergone strong positive selection towards increasing genetic risk in European derived populations. In addition type 2 diabetes and pancreatic cancer is associated with migration trajectories and I find genetic risk differentiation exceeding what is expected by genetic drift in a total of 11 complex diseases. Finally, I find evidence of positive selection in many distinct populations within proteins interacting bacillus anthracis and yersinia pestis, which cause anthrax and the bubonic plague, respectively. I have shown how recent evolution can lead to an increased understanding of both inherited and infectious disease.
  • Digital
    Shulin Li, editor.
    Digital : Springer Protocols2008
    Pt. I. Basic concepts of DNA transfer via electroporation. Application of electroporation gene therapy: past, current, and future / Lluis M. Mir -- Mechanism by which electroporation mediates DNA migration and entry into cells and targeted tissues / Marie-Pierre Rols -- Applicator and electrode design for in vivo DNA delivery by electroporation / Dietmar Rabussay -- Electrode assemblies used for electroporation of cultured cells / Leda Raptis and Kevin L. Firth -- Formulations for DNA delivery via electroporation in vivo / Khursheed Anwer -- Overview of drug delivery and alternative methods to electroporation / Sek-Wen Hui -- Nanoelectroporation: a first look / Raji Sundararajan -- Pt. II. In vitro targeted gene delivery via electroporation. Nucleofection of human embryonic stem cells / Henrike Siemen ... [et al.] -- Delivery of whole tumor lysate into dendritic cells for cancer vaccination / Linda N. Liu ... [et al.] -- Delivery of tumor-antigen-encoding mRNA into dendritic cells for vaccination / Annelies Michiels ... [et al.] -- Delivery of DNA into natural killer cells for immunotherapy / Kathrin Schoenberg, Hans-Ingo Trompeter, and Markus Uhrberg -- Electroporation of adherent cells in situ for the study of signal transduction and gap junctional communication / Leda Raptis ... [et al.] -- Delivery of DNA into adipocytes within adipose tissue / James G. Granneman -- Pt. III. In vivo targeted gene delivery via electroporation. Delivery of DNA into muscle for treating systemic diseases: advantages and challenges / Capucine Trollet, Daniel Scherman, and Pascal Bigey -- Delivery of DNA into skeletal muscle in large animals / Patricia A. Brown, Amir S. Khan, and Ruxandra Draghia-Akli -- Delivery of DNA into skin via electroporation / Babu M. Medi and Jagdish Singh -- Electroporation-mediated gene delivery to the lungs / Rui Zhou, James E. Norton, and David A. Dean -- Delivery of DNA into bladder via electroporation / Masaki Yoshida ... [et al.] -- Analysis of gene function in the retina / Takahiko Matsuda and Constance L. Cepko -- Optical in vivo imaging of electrically mediated delivery of siRNA into muscle for gene function analysis / Muriel Golzio and Justin Teissie -- Electroporation of adult zebrafish / N. Madhusudhana Rao, K. Murali Rambabu, and S. Harinarayana Rao -- Pt. IV. Treatment of cancer via electroporation gene therapy. Flow electroporation with pulsed electric fields for purging tumor cells / Abie Craiu and David Scadden -- Delivery of DNA into tumors / Shulin Li -- Intraturmoral bieomycin and IL-12 electrochemogenetherapy for treating head and neck tumors in dogs / Jeffry Cutrera ... [et al.] -- Systemic IL-12 gene therapy for treating malignancy via intramuscular electroporation / Shiguo Zhu and Shulin Li -- Treatment of SCCVII tumors with systemic chemotherapy and interleukin-12 gene therapy combination / Marina Torrero and Shulin Li -- Electroporation for drug and gene delivery in the cliic: doctors go electric / Julie Gehl -- IL-2 plasmid electroporation: from preclinical studies in phase I clinical trial / Holly M. Horton, Peggy A. Lalor, and Alain P. Rolland -- Pt. V. Treatment of other diseases via electroporation gene therapy. Factor IX gene therapy for hemophilia / James G. Fewell -- KGF-1 for wound healing in animal models / Guy P. Marti ... [et al.] -- Hapatocyte growth factor gene therapy for hypertension / Kazuo Komamura ... [et al.] -- Electroporation of corrective nucleic acids (CNA) in vivo to promote gene correction in dstrophic muscle / Robert M.I. Kapsa, Sharon H.A. Wong, and Anita F. Quigley -- Gene delivery to dystrophic muscle / Kim E. Wells ... [et al.] -- Effect of electroporation on cardiac electrophysiology / Vadim V. Fedorov, Vladimir P. Nikolski, and Igor R. Efimov -- Muscle and fat mass modulation in different clinical models / Ruxandra Draghia-Akli and Amir S. Khan -- Pt. VI. Applications of electroporation for DNA vaccination. DNA vaccination for prostate cancer / Anna-Karin Roos, Alan King, and Pavel Pisa -- HER2/neu DNA vaccination for breast tumors / Arianna Smorlesi ... [et al.] -- Electroporation-mediated HBV DNA vaccination in primate models / Yong-Gang Zhao and Yuhong Xu -- Taking electroporation-based delivery of DNA vaccination into humans: a generic clinical protocol / Torunn Elisabeth Tjelle ... [et al.] -- Production of monoclonal antibody by DNA immunization with electroporation / Kaw Yan Chua, John D.A. Ramos, and Nge Cheong.
  • Digital
    edited by David L. Rimoin, Reed E. Pyeritz and Bruce Korf.
    Digital : ScienceDirect2013
    Digital : ClinicalKey2013
    For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders.
  • Print
    [edited by] David L. Rimoin ... [et al.].
    Status: Not Checked OutLane Catalog Record
  • Digital
    Peter D. Turnpenny, Sian Ellard.
    Digital : ClinicalKey2012
    Master the genetics you need to know with the updated 14th Edition, by Drs. Peter Turnpenny and Sian Ellard. Review the field's latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient.
  • Print
    Peter Turnpenny, Sian Ellard.
    Print2007
    Status: Not Checked OutLane Catalog Record
    The history and impact of genetics in medicine -- The cellular and molecular basis of inheritance -- Chromosomes and cell division -- DNA technology and applications -- Mapping and identifying genes for monogenic disorders -- Developmental genetics -- Patterns of inheritance -- Mathematical and population genetics -- Polygenic and multifactorial inheritance -- Hemoglobin and the hemoglobinopathies -- Biochemical genetics -- Pharmacogenetics -- Immunogentics -- Cancer genetics -- Genetic factors in common diseases -- Congenital abnormalities and dysmorphic syndromes -- Genetic counseling -- Chromosome disorders -- Single-gene disorders -- Screening for genetic disease -- Prenatal testing and reproductive genetics -- Risk calculation -- Treatment of genetic disease -- Ethical and legal issues in medical genetics.
  • Digital
    Sangdun Choi, editor.
    Digital : Springer2012
  • Digital
    Detlev Ganten, Klaus Ruckpaul (eds.).
    Digital : Springer2006
    v. 1. A-L -- v. 2. M-Z.
  • Digital
    Helmtrud I. Roach, Felix Bronner, Richard O.C. Oreffo (editors).
    Digital : Springer2011
    Epigenetics and chronic diseases : an overview / Rebecca Smith, Jonathan Mill -- Techniques to study DNA methylation and histone modification / Ester Lara ... [et al.] -- Mechanisms of epigenetic gene silencing / Marie-Pierre Lambert, Zdenko Herceg -- Mechanisms of epigenetic gene activation in disease : dynamics of DNA methylation and demethylation / Thierry Granbe, Edio Eligio Lourenco -- The role of histone demethylases in disease / Paul Cloos -- Autoimmune diseases / Travis Hughes, Amr H. Sawalha -- Epigenetics of rheumatoid arthritis / Aleksander M. Grabiec, Paul P. Tak, Kris A. Reedquist -- DNA methylation changes in osteoarthritis / Helmtrud I. Roach -- Epigenetics and Type 2 diabetes / Charlotte Ling, Tina Ronn, Marloes Dekker Nitert -- Epigenetic regulation of asthma and allergic diseases / Andrew L. Durham, Ivan M. Adcock -- Epigenetics in psychiatry / Hamid Mostafavi-Abdolmaleky, Stephen J. Glatt, Ming T. Tsuang -- Epigenetics and late-onset Alzheimer's disease / Axel Schumacher, Syed Bihaqi, Nasser H. Zawia -- Epigenetic mechanisms in the developmental origins of adult disease / Keith M. Godfrey ... [et al.] -- Targeting histone deacetylases in chronic obstructive pulmonary disease / Peter J. Barnes -- Clinical trials of epigenetic modifiers in the treatment of myelodysplastic syndrome / Lauren C. Suarez, Steven D. Gore.
  • Digital
    edited by Steven G. Gray.
    Digital : ScienceDirect2015
    Ch. 1. Introduction -- Ch. 2. DNA methylation and hydroxymethylation in cancer -- Ch. 3. Writers, readers and erasers of epigenetic marks -- Ch. 4. MicroRNAs and cancer -- Ch. 5. Long noncoding RNAs and cancer -- Ch. 6. Ribosomal RNA methylation and cancer -- Ch. 7. Mining the epigenetic landscape: surface mining or deep underground -- Ch. 8. Development of epigenetic targeted therapies in hematological malignancies: from serendipity to synthetic leathality -- Ch. 9. Epigenetic therapy in lung cancer and mesothelioma -- Ch. 10. Breast cancer epigenetics -- Ch. 11. Therapeutic applications of the prostate cancer epigenome -- Ch. 12. Liver cancer (hepatocellular carcinoma) -- Ch. 13. Neuroblastoma -- Ch. 14. The epigenetics of medulloblastoma -- Ch. 15. Clinical significance of epigenetic alterations in glioblastoma -- Ch. 16. Esophageal cancer -- Ch. 17. Nasopharyngeal cancer -- Ch. 18. Nutritional epigenetic regulators in the field of cancer: new avenues for chemopreventive approaches -- Ch. 19. Emerging epigenetic therapies: lysine methyltransferase/PRC complex inhibitors -- Ch. 20. Inhibitors of Jumonji C-Domain histone demethylases -- Ch. 21. Emergine epigenetic therapies: lysine acetyltransferase inhibitors -- Ch. 22. Emerging epigenetic therapies: bromodomain ligands -- Ch. 23. Clinical trials -- Ch. 24. Genetic intratumor heterogeneity -- Ch. 25. Epigenetics underpinning DNA damage repair -- Ch. 26. Epigenetics of cisplatin resistance -- Ch. 27. Therapeutically targeting epigenetic regulation of cancer stem cells -- Ch. 28. Personalized epigenetic therapy: chemosensitivity testing -- Ch. 29. Personalized therapy: epigenetic profiling as predictors of prognosis and response -- Index.
  • Digital
    edited by Esteban Ballestar.
    Digital : Springer2011
    Print2011
    An introduction to epigenetics / Esteban Ballestar -- Chromatin mechanisms regulating gene expression in health and disease / Constanze Bonifer and Peter N. Cockerill -- Epigenetic control of lymphocyte differentiation / Eduardo Lopez-Granados -- Epigenetic control in immune function / Peter J. van den Elsen, Marja C.J.A. van Eggermond, and Rutger J. Wierda -- DNA methylation and B-cell autoreactivity / Soizic Garaud, Pierre Youinou, and Yves Renaudineau -- Environmental agents and autoimmune diseases / Frederick W. Miller -- Epigenetic dysregulation of Epstein-Barr virus latency and development of autoimmune disease / Hans Helmut Niller ... [et al.] -- Does genomic imprinting play a role in autoimmunity? / Cristina Camprubø and David Monk -- A new epigenetic challenge : systemic lupus erythematosus / Biola M. Javierre and Bruce C. Richardson -- Epigenetic deregulation in rheumatoid arthritis / Emmanuel Karouzakis ... [et al.] -- Prospects for epigenetic compounds in the treatment of autoimmune disease / Nadine Chapman-Rothe and Robert Brown -- Profiling epigenetic alterations in disease / Josø Ignacio Martøn-Subero and Manel Esteller.
  • Digital
    Karin B. Michels, editor.
    Digital : Springer2012
    Human epigenome -- Considerations in the design, conduct, and interpretation of studies in epigenetic epidemiology -- Laboratory methods in epigenetic epidemiology -- Biostatistical methods in epigenetic epidemiology -- Epigenome changes during development -- Role of epigenetics in the development origins of health and disease -- Epigenetics and assisted reproductive technology -- Imprinting disorders of early childhood -- Utility of twins for epigenetic analysis -- Age-related variation in DNA methylation -- Influence of environmental factors on the epigenome -- Epigenetic epidemiology of cancer -- Epigenetic epidemiology of infectious diseases -- Epigenetic epidemiology of inflammation and rhematoid arthritis -- Asthma epigenetics : emergnece of a new paradigm? -- Epigenetic epidemiology of autism and other neurodevelopmental disorders -- Epigenetic epidemiology psychiatric disorders -- Epigenetic epidemiology of type 1 diabetes -- Epigenetic epidemiology of obesity, type 2 diabetes -- Epigenetic epidemiology of atherosclerosis.
  • Digital
    edited by Kasirajan Ayyanathan, PhD.
    Digital : CRCnetBASE2014
    1. Epigenetics of host-pathogen interactions : the road ahead and the road behind / Elena Gm̤ez-Da̕z, Mireia Jord,̉ Miguel Angel Peinado, and Ana Rivero -- 2. A concise review on epigenetic regulation : insight into molecular mechanisms / Shahram Golbabapour, Mahmood Ameen Abdulla, and Maryam Hajrezaei -- 3. Genome-wide analysis of DNA methylation in human amnion / Jinsil Kim, Mitchell M. Pitlick, Paul J. Christine, Amanda R. Schaefer, Cesar Saleme, Belň Comas, Viviana Cosentino, Enrique Gadow, and Jeffrey C. Murray -- 4. Assessing causal relationships in genomics : from Bradford-Hill criteria to complex gene-environment interactions and directed acyclic graphs / Sara Geneletti, Valentina Gallo, Miquel Porta, Muin J. Khoury, and Paolo Vineis -- 5. The biology of lysine acetylation integrates transcriptional programming and metabolism / Jigneshkumar Patel, Ravi R. Pathak, and Shiraz Mujtaba -- 6. Roles of histone deacetylases in epigenetic regulation : emerging paradigms from studies with inhibitors / Geneviv̈e P. Delcuve, Dilshad H. Khan, and James R. Davie -- 7. Aberrant epigenetic silencing is triggered by a transient reduction in gene expression / Jon A. Oyer, Adrian Chu, Sukhmani Brar, and Mitchell S. Turker -- 8. The sound of silence : RNAi in poly (ADP-Ribose) research / Christian Blenn, Philippe Wyrsch, and Felix R. Althaus -- 9. Epigenetic deregulation of microRNAs in rhabdomyosarcoma and neuroblastoma and translational perspectives / Paolo Romania, Alice Bertaina, Giorgia Bracaglia, Franco Locatelli, Doriana Fruci, and Rossella Rota -- 10. Epigenetic effects of environmental chemicals bisphenol A and phthalates / Sher Singh and Steven Shoei-Lung Li -- 11. The influence of DNA sequence on epigenome-induced pathologies / Richard B. Meagher and Kristofer J. M¿ssar -- 12. Next generation sequencing based approaches to epigenomics / Martin Hirst and Marco A. Marra -- 13. Design and analysis issues in gene and environment studies / Chen-Yu Liu, Arnab Maity, Xihong Lin, Robert O. Wright, and David C. Christiani.
  • Digital
    edited by Trygve Tollefsbol.
    Digital : ScienceDirect2012
    Epigenetics of human disease / Trygve O. Tollefsbol -- Methods and strategies to determine epigenetic variation in human disease / Yoshihisa Watanabe and Masato Maekawa -- DNA methylation alterations in human cancers / Yae Kanai and Eri Arai -- Alterations of histone modifications in cancer / Ciro Mercurio, Simon Plyte and Saverio Minucci -- MicroRNA in oncogenesis / Niamh Lynam-Lennon, Steven G. Gray and Stephen G. Maher -- Epigenetic approaches to cancer therapy / Sabita N. Saldanha and Trygve O. Tollefsbol -- Epigenomics in neurobehavioral diseases / Cassandra L. Smith and Kai Huang -- Emerging role of epigenetics in human neurodevelopmental disorders / K. Naga Mohan and J. Richard Chaillet -- The epigenetics of Alzheimer's disease / Fabio Coppedè -- Epigenetic modulation of human neurobiological disorders / Takeo Kubota ... [et al.] -- Epigenetic basis of autoimmune disorders in humans / Biola M. Javierre, Lorenza de la Rica and Esteban Ballestar -- Approaches to autoimmune disease using epigenetic therapy / Christopher Chang -- Epigenetic mechanisms of human imprinting disorders / Richard H. Scott and Gudrun E. Moore -- Epigenetic factors in human obesity / Christopher G. Bell -- Epigenetic approaches to control obesity / Abigail S. Lapham ... [et al.] -- Epigenetics of diabetes in humans / Charlotte Ling and Tina Rönn -- The potential of epigenetic compounds in treating diabetes / Steven G. Gray -- Epigenetic aberrations in human allergic diseases / Manori Amaraseka ... [et al.] -- Therapy of airway disease: epigenetic potential / Peter J. Barnes -- The role of epigenetics in cardiovascular disease / Boda Zhou, Andriana Margariti and Qingbo Xu -- Epigenetics and human infectious diseases / Hans Helmut Niller and Janos Minarovits -- The epigenetics of endometriosis / Sun-Wei Guo -- Aberrant DNA methlylation in endometrial cancer / Kenta Masuda ... [et al.] -- Stem cell epigenetics and human disease / Mehdi Shafa and Derrick E. Rancourt -- Non-coding RNA regulatory networks, epigenetics, and programming stem cell renewal and differentiation: implications for stem cell therapy / Rajesh C. Miranda -- Aging and disease: the epigenetic bridge / Andrea Fuso -- Early-life epigenetic programming of human disease and aging / Alexander M. Vaiserman.
  • Digital
    Anne C. Ferguson-Smith, John M. Greally, Robert A. Martienssen, editors.
    Digital : Springer2009
  • Digital
    edited by Robert P. Erickson, Anthony Wynshaw-Boris.
    Digital : Oxford Medicine Online2016
    Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
  • Digital
    edited by Geoffrey S. Ginsburg and Huntington F. Willard.
    Digital : ScienceDirect2010
    The foundations of genomic and personalized medicine -- Section 1. Basics -- Organization, variation and expression of the human genome -- DNA sequencing for the detection of human genome variation -- Genome-wide association studies and genotyping technologies -- Copy number variation and human health -- DNA methylation analysis: providing new insight into human disease -- DNA microarrays in biological discovery and patient care -- Proteomics: the deciphering of the functional genome -- Comprehensive metabolic analysis for understanding of disease -- Section 2. Informatics -- Bioinformatic and computational analysis for genomic medicine -- Systems biology and systems medicine -- Electronic medical records in genomic medicine practice and research -- Online health information retrieval by consumers -- Section 3. Translational -- Translational genomics: from discovery to clinical practice -- Pharmacogenetics and pharmacogenomics -- Clinical implementation of translational genomics -- The role of genomics in enabling prospective health care -- Genome policy considerations for genomic medicine -- Federal regulation of genomic medicine -- Economic issues and genomic medicine -- Public health genomics. Section 4. Clinical (cardiology) -- The genomics of hypertension -- Lipoprotein disorders -- Genomics of myocardial infarction -- Acute coronary syndromes -- Heart failure in the era of genomic medicine -- Genomic assessment of cardiac transplant rejection -- Genetics and genomics of hypertrophic cardiomyopathy -- Genetics and genomics of arrhythmias -- Genetics and genomics in the management of hemostasis and thrombosis -- Genomics of congenital heart disease -- Section 5. Clinical (oncology) -- Genomics in the management of lymphomas -- Genomics in leukemias -- Genomics in the diagnosis and management of lung cancer -- Genomics in the diagnosis and management of breast cancer -- Colorectal cancer -- Genomic evaluation and management of prostate cancer -- Genomic assessment of ovarian cancer -- Genomic evaluation of pancreatic neoplasms -- Genomic evaluation of head and neck cancer -- Genomic evaluation of brain tumors and gliomas -- Targeted therapies for cancer. Section 6. Clinical (inflammatory disease) -- Genomics in the evaluation and management of rheumatoid arthritis -- Genomic evaluation of multiple sclerosis -- Genomic assessment of inflammatory bowel disease -- Asthma genomics -- Genomics in the evaluation and management of chronic obstructive pulmonary disease -- Genetics and genomics of interstitial lung disease -- Peptic ulcer disease -- Section 7. Clinical (metabolic disease) -- Genomics in pathogenesis of cirrhosis -- Genomic medicine and obesity -- Diabetes -- Section 8. Clinical (neurological disease) -- Genetics and genomics of dementia -- Genetics and genomics of Parkinson's disease -- Genomic considerations in ophthalmology -- Genomics in the diagnosis and management of depression -- Section 9. Clinical (infectious disease) -- Genomic approaches to the host response to pathogens -- Host genomics and bacterial infections -- Genomics in the evaluation and management of sepsis -- Genomics and the management of hepatitis.
  • Digital
    Tamara Fischmann, Elisabeth Hildt, editors.
    Digital : Springer2011
    Ethical Dilemmas Due to Prenatal and Genetic Diagnostics: An Interdisciplinary, European Study (EDIG, 2005-2008) / Marianne Leuzinger-Bohleber -- Managing Complex Psychoanalytic Research Projects Applying Mapping Techniques - Using the Example of the EDIG Study / Nicole Pfenning-Meerkötter -- Distress and Ethical Dilemmas Due to Prenatal and Genetic Diagnostics - Some Empirical Results / Tamara Fischmann -- Reconstruction of Pregnant Women's Subjective Attitudes Towards Prenatal Diagnostics - A Qualitative Analysis of Open Questions / Katrin Luise Läzer -- Prenatal Testing: Women's Experiences in Case of a Conspicuous Test Result / Elisabeth Hildt -- Caring for Women During Prenatal Diagnosis: Personal Perspectives from the United Kingdom / Helen Statham and Joanie Dimavicius -- Cooperation Is Rewarding If the Boundary Conditions Fit: Interdisciplinary Cooperation in the Context of Prenatal Diagnostics / Astrid Riehl-Emde, Anette Bruder, Claudia Pauli-Magnus, and Vanessa Sieler -- Prenatal Genetic Counselling: Reflections on Drawing Policy Conclusions from Empirical Findings / Anders Nordgren -- Taking Risk in Striving for Certainty. Discrepancies in the Moral Deliberations of Counsellors and Pregnant Women Undergoing PND / László Kovács -- Ethical Thoughts on Counselling and Accompanying Women and Couples Before, During and After Prenatal Diagnosis / Dierk Starnitzke -- Client, Patient, Subject; Whom Should We Treat? On the Significance of the Unconscious in Medical Care and Counselling / Yair Tzivoni -- Decision to Know and Decision to Act / Regina Sommer -- Moral Decision-Making, Narratives and Genetic Diagnostics / Göran Collste -- Prenatal Diagnostics and Ethical Dilemmas in a Mother Having a Child with Down Syndrome / Maria Samakouri, Evgenia Tsatalmpasidou, Konstantia Ladopoulou, Magdalini Katsikidou, Miltos Livaditis, and Nicolas Tzavaras -- Is There One Way of Looking at Ethical Dilemmas in Different Cultures? / Stephan Hau.
  • Digital
    Alexandra Minna Stern.
    Digital : OSO2016
    "With an emphasis on the American West, Eugenic Nation explores the long and unsettled history of eugenics in the United States. This expanded second edition includes shocking details that demonstrate that the story is far from over. Alexandra Minna Stern explores the unauthorized sterilization of female inmates in California state prisons and ongoing reparations for North Carolina victims of sterilization, as well as the topics of race-based intelligence tests, school segregation, the U.S. Border Patrol, tropical medicine, the environmental movement, and opposition to better breeding. Radically new and relevant, this edition draws from recently uncovered historical records to demonstrate patterns of racial bias in California's sterilization program and to recover personal experiences of reproductive injustice. Stern connects the eugenic past to the genomic present with attention to the ethical and social implications of emerging genetic technologies"--Provided by publisher.
  • Digital
    Committee on the Evidence Base for Genetic Testing, Board on the Health of Select Populations, Board on Health Care Services, Health and Medicine Division, a report of the National Academies of Sciences, Engineering, Medicine.
    Digital : NCBI2017
    "Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care"--Publisher's description.
  • Digital
    Donald R. Forsdyke.
    Digital : Springer2011
    Pt. 1. Information and DNA -- pt. 2. Parity and non-parity -- pt. 3. Variation and speciation -- pt. 4. Conflict with genomes -- pt. 5. Conflict between genomes -- pt. 6. Sex and error-correction -- pt. 7. Information and mind.
  • Digital
    David Goode.
    Digital2010
    I demonstrate how comparative sequence analysis facilitates genome-wide base-pair level interpretation of individual genetic variation, and address three questions of importance for human personal genomics: First, whether an individual's functional variation comes mostly from noncoding or coding polymorphisms; second, whether population-specific or globally present polymorphisms contribute more to functional variation in any given individual; third what is the functional impact of short insertions and deletions in an individual genome. These questions have not been definitively answered by analyses of existing variation data because of a focus on coding polymorphisms, ascertainment biases in favor of common variation, and a lack of base-pair level resolution for identifying functional variants. The data set used in this study consisted of 575 amplicons resequenced in 432 individuals at genomic sites enriched for evolutionary constraint, and variation from 5 published human genomes. Single-site measures of evolutionary constraint derived from mammalian multiple sequence alignments are strongly predictive of reductions in modern-day genetic diversity across a range of annotation categories and across the allele frequency spectrum. I show that putatively functional variation in an individual genome is dominated by polymorphisms that do not change protein sequence, and which originate from our shared ancestral population and commonly segregate in human populations. Furthermore, I demonstrate that selection against short human indels has been shaped by patterns of evolutionary constraint, belying their potential functional importance. These observations show that common, noncoding alleles contribute substantially to human phenotypes and that constraint-based analyses will be of tremendous value to identify phenotypically-relevant variants in individual genomes.
  • Digital
    Keyan Salari.
    Digital2010
    Advances in genomic technologies have allowed investigators to survey diverse molecular properties of cancer cells including DNA copy number alterations, RNA transcript abundance, and protein-DNA binding events. While each data type offers a unique snapshot of the tumor cell, an integrated analysis of two or more complementary data types can reveal much more than the sum of its parts. In this dissertation, I describe new integrative genomic methodologies and novel biologic insights gleaned from their application. In one such analysis of 52 breast cancer cell lines, we identify genomic alterations and gene-expression profiles that largely resemble those identified in primary breast tumors, therefore defining relevant tumor models of breast cancer subtypes. Additionally, we identify 80 high-level DNA amplifications and 13 multi-copy deletions, harboring known and novel cancer genes, thereby providing a rich resource for new breast cancer gene discovery and characterization. In an integrative analysis of colorectal cancers, we unveil a region of amplification highly specific to colorectal-derived tumors. We identify and characterize caudal type homeobox transcription factor 2 (CDX2), a master regulator of intestinal cell survival and differentiation, as the target gene of this amplification, and show a CDX2 amplification-specific dependency for tumor cell survival, proliferation, and anchorage-independent growth. Moreover, by integrating protein-DNA binding and gene expression data, we uncover a novel relationship between CDX2 and Wnt/[beta]-catenin signaling. Taken together, these data show that for a subset of colorectal-derived tumors, cell survival and proliferation are dependent on the abnormal amplification and overexpression of CDX2, thereby characterizing CDX2 as a novel lineage-survival oncogene in colorectal cancer. In the last portion of the dissertation, I reflect on how the rapidly growing knowledgebase of genetic associations with disease and drug response will help usher in a new era of personalized medicine. To help prepare for a future that includes an array of available genomic laboratory tests, I discuss the necessity to reform medical school curricula to educate students about the interpretation, limitations, and impact of genomic testing in clinical medicine. I describe the challenges and considerations relevant to the development of a novel educational curriculum that includes personal genomic testing.
  • Digital
    Deborah Elstein, Gheona Altarescu, Michael Beck, editors.
    Digital : Springer2010
  • Digital
    Jack A. Roth, editor.
    Digital : Springer2010
  • Digital
    Rodrick Wallace, Deborah Wallace.
    Digital : Springer2010
  • Digital
    Nadav Ahituv, editor.
    Digital : Springer2012
    Gene regulatory elements / Nadav Ahituv -- Hemoglobin regulatory regions / Betty S. Pace and Levi H. Makala -- Regulatory polymorphisms and osteoporosis / Huilin Jin and Stuart H. Ralston -- Gene regulation in Van Buchem disease / Gabriela G. Loots -- Cis-regulatory enhancer mutations are a cause of human limb malformations / Julia E. VanderMeer and Nadav Ahituv -- Regulatory mutations leading to cleft lip and palate / Brian C. Schutte, Walid D. Fakhouri and Daniel Zemke -- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin sequence / Christopher T. Gordon, Sabina Benko, Jeanne Amiel and Stanislas Lyonnet -- Regulatory mutations in human hereditary deafness / Jonathan E. Bird and Thomas B. Friedman -- Contributions of RET noncoding variation to Hirschsprung disease / Zachary E. Stine and Andrew S. McCallion -- Cis-regulatory variation and cancer / Nora F. Wasserman and Marcelo A. Nobrega -- Cohesin and human diseases / Dongbin Xu and Ian D. Krantz -- Epigenetics and human disease / Angeliki Magklara and Stavros Lomvardas.
  • Digital
    editors, Jörg Niewöhner, Christof Tannert.
    Digital : ScienceDirect2006
    Print2006
  • Digital
    Shuji Terai, Takeshi Suda, editors.
    Digital : Springer2016
    This book reports the recent progress in gene and cell therapy through the liver and aims to facilitate a comprehensive understanding of the current aspects and future prospects from basic research to clinical therapies. Edited by pioneering researchers, this volume presents extensive information to principal investigators, researchers, postdocs, and clinicians for examining the wide varieties of pathological conditions both inside and outside the liver. Providing not only the basic and clinical aspects of therapy, this volume is special in that it focuses on the administrative and regulatory difficulties of actual clinical application and legal regulations in different parts of the globe. By indicating the advantages and limitations of the most promising gene and cell therapies targeting the liver, this book will inspire readers to develop a feasible treatment in the next generation.
  • Digital
    edited by Kelly K. Hunt, Stephan A. Vorburger, Stephen G. Swisher.
    Digital : Springer2007
    Print2007
    Adenovector-mediated cancer gene therapy / Bingliang Fang and Jack A. Roth -- Efficacy, toxicity, and immunogenicity of adenoviral vectors / Dmitry M. Shayakhmetov -- Lentiviral and retroviral vector systems / Renata Stripecke and Noriyuki Kasahara -- Vaccinia and pox-virus / Sricharan Chalikonda and David L. Bartlett -- Herpes simplex virus as a therapy for cancer / Ian J. Mohr -- Alphavirus vectors for gene therapy applications / Kenneth Lundstrom -- Vesicular stomatitis virus and RNA viruses as gene therapy vectors / Glen N. Barber -- Parvovirus vectors / Selvarangan Ponnazhagan -- Nonviral vector systems / Pui-yan Lee and Leaf Huang -- Oncogenes, tumor suppressor genes, and apoptosis-inducing genes utilized in cancer gene therapy / Lidong Zhang and Bingliang Fang -- Gene silencing therapy against cancer / Chao-Zhong Song -- Tumor targeting-retargeted adenovirus / Masato Yamamoto and David T. Curiel -- Oncolytic herpes simplex for gene therapy in preclinical and clinical trials / Richard H. Pin ... [et al.] -- Cytokine gene therapy for genitourinary cancer / Terry L. Timme ... [et al.] -- Combination of gene therapy with radiation / Anupama Munshi and Raymond E. Meyn -- Gene transfer for chemoprotection and enrichment of hematopoietic stem cells / Justin C. Roth and Stanton L. Gerson -- Nonviral genetic vaccines for cancer / Steven R. Little, Daniel G. Anderson, and Robert Langer -- Gene therapy targeted at angiogenesis and lymphangiogenesis for cancer treatment / Anita T. Tandle and Steven K. Libutti -- Tumor-specific replicating adenoviruses : delta 24 for human gliomas / Giacomo G. Vecil, Juan Fueyo, and Frederick F. Lang -- Problems, side effects, and disappointments in clinical cancer gene therapy / Ta-Chiang Liu and David H. Kirn -- Trials and tribulations in developing clinical trials of gene therapy : E1A for breast or ovarian cancer / Naoto T. Ueno ... [et al.] -- Phase I clinical experience with intravenous administration of PV701, an oncolytic virus / Andrew L. Pecora and Robert M. Lorence -- MDA-7/IL-24 as a multi-modality therapy for cancer / Sunil Chada ... [et al.] -- Development of therapeutic genes for breast cancer treatment / Mien-Chie Hung and Duen-Hwa Yan -- Steps in a translational cancer gene therapy trial / Urs W. von Holzen and Stephen G. Swisher.
  • Digital
    [edited by] Gérald J. Prud'homme.
    Digital : Springer2005
    Print2005
    Gene therapy approaches for autoimmune diseases of the central nervous system and other tissues / Roberto Furlan ... [et al.] -- Gene therapeutics in autoimmune diabetes / Jon D. Piganelli, Massimo Trucco, and Nick Giannoukakis -- Immunogene therapy with nonviral vectors / Ciriaco A. Piccirillo, Argyrios N. Theofilopoulos, and Gérald J. Prud'homme -- Targeting antigen-specific T cells for gene therapy of autoimmune disease / Justin M. Johnson and Vincent K. Tuohy -- Therapeutic gene transfer for rheumatoid arthritis / Natacha Bessis and Marie-Christophe Boissier -- Gene therapy-based approach for immune tolerance induction using recombinant immunoglobulin carriers / Moustapha El-Amine ... [et al.] -- DNA vaccination against autoimmune diseases / Gérald J. Prud'homme ... [et al.].
  • Digital
    volume editor, Allen F. Ryan.
    Digital : Karger2009
    Print2009
    Gene therapy for the inner ear : challenges and promises / Ryan, A.F., Dazert, S. -- Therapeutic regulation of gene expression in the inner ear using RNA interference / Maeda, Y., Smith, R.J.H. -- Gene therapy of the inner ear using adenovirus vectors / Husseman, J., Raphael, Y. -- Repair of the vestibular system via adenovector delivery of Atoh1 : a potential treatment for balance disorders / Baker, K., Brough, D.E., Staecker, H. -- Gene therapy and stem cell transplantation : strategies for hearing restoration / Kesser, B.W., Lalwani, A.K. -- Adenoviral and AAV-mediated gene transfer to the inner ear : role of serotype, promoter, and viral load on in vivo and in vitro infection efficiencies / Luebke, A.E. ... [et al.].
  • Digital
    [edited by] Michael G. Kaplitt and Matthew J. During.
    Digital : ScienceDirect2006
  • Digital
    Myles W. Jackson.
    Digital : OSO2015
    Digital : ProQuest Ebook Central2015
    In The Genealogy of a Gene, Myles Jackson uses the story of the CCR5 gene to investigate the interrelationships among science, technology, and society. Mapping the varied "genealogy" of CCR5 -- intellectual property, natural selection, Big and Small Pharma, human diversity studies, personalized medicine, ancestry studies, and race and genomics -- Jackson links a myriad of diverse topics. The history of CCR5 from the 1990s to the present offers a vivid illustration of how intellectual property law has changed the conduct and content of scientific knowledge, and the social, political, and ethical implications of such a transformation. The CCR5 gene began as a small sequence of DNA, became a patented product of a corporation, and then, when it was found to be an AIDS virus co-receptor with a key role in the immune system, it became part of the biomedical research world -- and a potential moneymaker for the pharmaceutical industry. When it was further discovered that a mutation of the gene found in certain populations conferred near-immunity to the AIDS virus, questions about race and genetics arose. Jackson describes these developments in the context of larger issues, including the rise of "biocapitalism," the patentability of products of nature, the difference between U.S. and European patenting approaches, and the relevance of race and ethnicity to medical research.
  • Digital
    Panayiotis Vlamos editor.
    Digital : Springer2017
  • Digital
    edited by Richard A. King, Jerome I. Rotter, Arno G. Motulsky.
    Digital : MyiLibrary2002
    Print2002
  • Digital
    edited by Sabrina Tosi, Alistair Reid.
    Digital : Wiley2016
    Molecular genetics of the myeloproliferative neoplasms / Philip A Beer -- Acute myeloid leukaemia / Dr Matthew L. Smith & Dr Thomas McKerrell -- Molecular genetics of pediatric acute myeloid leukemia (AML) / M.M. van den Heuvel-Eibrink, J.D.E. de Rooij, and C.M. Zwaan -- Acute lymphoblastic leukemia / Anna Andersson, Anthony V. Moorman, Christine J. Harrison and Charles Mullighan -- The genetics of mature b-cell malignancies / Jonathan C. Strefford, Jude Fitzgibbon, Matthew J.J. Rose-Zerilli and Csaba Bödör -- The genetics of chronic myelogenous leukaemia / Philippa C. May, Jamshid S. Khorashad, Mary Alikian, Danilo Perrotti and Alistair G. Reid.
  • Digital
    Gianfranco Sinagra, Luisa Mestroni, Fulvio Camerini, editors ; foreword by Perry Elliott.
    Digital : Springer2013
  • Digital
    Jill S. Goldman, editor.
    Digital : Springer2015
    Will I end up just like my parent? Will the children get it too? Why is this happening to me? The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.
  • Digital
    Ian M. MacFarlane, Patricia McCarthy Veach, Bonnie S. LeRoy.
    Digital : Oxford Medicine Online2014
    Developing research questions -- Finding sources -- Writing a review of literature -- Ethics in research -- Choosing a paradigm -- Designing a quantitative study -- Quantitative data analysis : I've got data, how do I get answers? -- Conducting qualitative genetic counseling research -- Preparing a manuscript for publication -- Guidelines for directing research.
  • Digital
    Elisabetta Baldi, Monica Muratori, editors.
    Digital : Springer2014
    Print2014
    There are several types of damage that can be found in the male gamete. Genetic damage in spermatozoa can originate during spermatogenesis, or it can originate during transit in both male and female genital tracts. Damage can also be due to aging, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. This book provides a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.
  • Digital
    edited by Roy E. Weiss, Samuel Refetoff.
    Digital : ScienceDirect2010
    Mechanisms of mutation -- Pancreas - Genetic testing in diabetes mellitus: a clinical guide to monogenic diabetes -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Pituitary -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Thyroid -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of reduced sensitivity to thyroid hormone -- Molecular genetics of thyroid cancer: pathogenetic significance and clinical applications -- Parathyroid and bone -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin D disorders -- Adrenal -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary pheochromocytoma and multiple endocrine neoplasia type 2 (MEN2) -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Reproductive -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Genetic diagnosis of hypogonadotropic hypogonadism and Kallmann syndrome -- Disorders of sex development -- Genetic defects of androgen resistance -- Multisystem disorders -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Growth -- Genetic diagnosis of growth failure -- Counseling and laboratory -- Genetic counseling -- Setting up a laboratory.
  • Digital
    edited by Roy E. Weiss, Samuel Refetoff.
    Digital : ClinicalKey2016
    Mechanisms of mutation -- A clinical guide to monogenic diabetes -- Hypoglycemia -- Functioning pituitary adenomas -- Diabetes insipidus -- States of pituitary hypofunction -- Congenital defects of thyroid hormone synthesis -- Developmental abnormalities of the thyroid -- Syndromes of impaired sensitivity to thyroid hormone -- Molecular diagnosis of thyroid cancer -- Genetics of hyperparathyroidism including parathyroid cancer -- Genetic diagnosis of skeletal dysplasias -- Vitamin d disorders -- Congenital adrenal hyperplasia -- Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes -- Hereditary syndromes involving pheochromocytoma and paraganglioma -- Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance -- Genetic considerations in the evaluation of menstrual cycle irregularities -- Disorders of sex development -- Androgen insensitivity due to mutations of the androgen receptor -- Obesity -- Syndromes of severe insulin resistance and/or lipodystrophy -- Lipodystrophies -- Multiple endocrine neoplasia type 1 (MEN1) -- Genetics of polyglandular failure -- Genetic diagnosis of growth failure -- Cost-effectiveness of genetic testing for monogenic diabetes -- Genetic counseling: the role of genetic counselors on healthcare provider and endocrinology teams -- Setting up a laboratory -- Introduction to applications of genomic sequencing.
  • Print
    edited by Dhavendra Kumar ; forward by Sir David Weatherall.
    Print2010
    Status: Not Checked OutLane Catalog Record
    "The population of the Indian subcontinent consists of a fine amalgamation of people from diverse tribal, cultural, religious and social backgrounds. Mortality and morbidity from a vast number of medical and surgical conditions is significant and well above compared to the developed countries. Although a large component of the human health problem is related to infection, malnutrition and other preventable causes, a significant proportion is linked to hereditary factors reflecting in the form of chromosomal, single gene and complex medical diseases. Unusual and unique Mendelian disorders are not uncommon and a number of common medical conditions, such as ischemic heart disease and diabetes mellitus are relatively more prevalent among those living in the developing countries of the Indian subcontinent and as well as among the migrant population groups in the western world. However, true burden of the inherited disorders among the Asian Indians is not known, and probably underestimated. -- This text includes a detailed and concise account of the social and cultural diversity, medical demography, genetic epidemiology, consanguinity and common genetic disorders affecting people from the Indian subcontinent. In addition, specific issues of genetic services in various regions are addressed. This volume also provides a glossary for the benefit of non-genetic professionals and is aimed at a wide audience including physicians, genetic professionals, public health consultants, medical demographers, medica/social anthropologists and health administrators." -- [Publisher-supplied data]
  • Digital
    edited by M. Dawn Teare.
    Digital : Springer Protocols2009
    Molecular Genetics and Genetic Variation / Mohammed-Elfatih Twfieg, M. Dawn Teare -- Terminology, Concepts, and Models in Genetic Epidemiology / M. Dawn Teare, Mauro F. Koref -- An Introduction to Epidemiology / Cother Hajat -- Genetic Distance and Markers Used in Linkage Mapping / Kristina Allen-Brady, Nicola J. Camp -- Approaches to Genetic Linkage Analysis / M. Dawn Teare -- Fine-Scale Structure of the Genome and Markers Used in Association Mapping / Karen Curtin, Nicola J. Camp -- Genome-Wide Association Studies / Mark M. Iles -- Candidate Gene Association Studies / M. Dawn Teare -- Family-Based Association Studies / Frank Dudbridge -- Genome Variation: A Review of Web Resources / Andrew Collins, William J. Tapper -- Advanced Methods in Twin Studies / Jaakko Kaprio, Karri Silventoinen -- Mendelian Randomisation: A Tool for Assessing Causality in Observational Epidemiology / Nuala A. Sheehan, Sha Meng, Vanessa Didelez -- Copy Number Variation / Louise V. Wain, Martin D. Tobin -- Epigenetic Variation / Kevin Walters -- Modeling the Effect of Susceptibility Factors (HLA and PTPN22) in Rheumatoid Arthritis / Hervé Perdry, Françoise Clerget-Darpoux -- Coronary Artery Disease: An Example Case Study / Jennifer H. Barrett -- The Genetic Epidemiology of Obesity: A Case Study / Laura M. Johnson.
  • Digital
    editor M. Dawn Teare.
    Digital : Springer Protocols2011
    Molecular genetics and genetic variation / Mohammed-Elfatih Twfieg and M. Dawn Teare -- Terminology, concepts, and models in genetic epidemiology / M. Dawn Teare and Mauro F. Santibàñez Koref -- An introduction to epidemiology / Cother Hajat -- Genetic distance and markers used in linkage mapping / Kristina Allen-Brady and Nicola J. Camp -- Approaches to genetic linkage analysis / M. Dawn Teare -- Fine-scale structure of the genome and markers used in association mapping / Karen Curtin and Nicola J. Camp -- Genome-wide association studies / Mark M. Iles -- Candidate gene association studies / M. Dawn Teare -- Family-based association studies / Frank Dudbridge -- Genome variation : a review of web resources / Andrew Collins and William J. Tapper -- Advanced methods in twin studies / Jaakko Kaprio and Karri Silventoinen -- Mendelian randomisation : a tool for assessing causality in observational epidemiology / Nuala A. Sheehan, Sha Meng, and Vanessa Didelez -- Copy number variation / Louise V. Wain and Martin D. Tobin -- Epigenetic variation / Kevin Walters -- Modeling the effect of susceptibility factors (HLA and PTPN22) in rheumatoid arthritis / Hervé Perdry and Françoise Clerget-Darpoux -- Coronary artery disease : an example case study / Jennifer H. Barrett -- The genetic epidemiology of obesity : a case study / Laura M. Johnson.
  • Digital
    volume editors, Cor W.R.J. Cremers, Richard J.H. Smith.
    Digital : Karger2002
    Print2002
  • Digital
    editors, Robert D. Wells, Tetsuo Ashizawa.
    Digital : ScienceDirect2006
    Print2006
    Overview. Overview of the field / Tetsuo Ashizawa and Robert D. Wells -- Myotonic dystrophy. Myotonic dystrophies: an overview / Tetsuo Ashizawa and Peter S. Harper. The RNA-mediated disease process in myotonic dystrophy / Charles A. Thornton, Maurice S. Swanson, and Thomas A. Cooper. cis Effects of CTG expansion in myotonic dystrophy type 1 / Sita Reddy and Sharan Paul. Normal and pathophysiological significance of myotonic dystrophy protein kinase / Derick G. Wansink, René E.M.A. van Herpen, and Bé Wieringa. Biochemistry of myotonic dystrophy protein kinase / Ram Singh and Henry F. Epstein. Clinical and genetic features of myotonic dystrophy type 2 / Jamie M. Margolis, Laura P.W. Ranum, and John W. Day. Myotonic dystrophy type 2: clinical and genetic aspects / Ralf Krahe, Linda L. Bachinski, and Bjarne Udd. The subtelomeric D4Z4 repeat instability in facioscapulohumeral muscular dystrophy / Silvére van der Maarel, Rune R. Frants, and George W. Padberg -- Fragile X syndrome. Fragile X syndrome and fragile X-associated tremor/ataxia syndrome / Randi J. Hagerman and Paul J. Hagerman. Animal models of fragile X syndrome: mice and flies / Ben A. Oostra and David L. Nelson. Chromosomal fragile sites: mechanisms of cytogenetic expression and pathogenic consequences / Robert I. Richards -- Kennedy's disease. Clinical features and molecular biology of Kennedy's disease / CheunJu Chen and Kenneth H. Fischbeck -- Huntington's disease. Molecular pathogenesis and therapeutic targets in Huntington's disease / John S. Bett, Gillian P. Bates, and Emma Hockly. Molecular pathogenesis of Huntington's disease: the role of excitotoxicity / Mahmoud A. Pouladi ... [et al.] Huntington's disease-like 2 / Russell L. Margolis ... [et al.] -- Friedreich's ataxia. Friedreich's ataxia / Massimo Pandolfo. Experimental therapeutics for Friedreich's ataxia / Robert B. Wilson. Evolution and instability of the GAA triplet-repeat sequence in Friedreich's ataxia / Irene De Biase, Astrid Rasmussen, and Sanjay I. Bidichandani. Mouse models for Friedreich's ataxia / Hélène Puccio. Triplexes, sticky DNA, and the (GAA-TTC) trinucleotide repeat associated with Friedreich's ataxia / Leslie S. Son and Robert D. Wells -- Spinocerebellar ataxias. Phosphorylation of ataxin-1: a link between basic research and clinical application in spinocerebellar ataxia type 1 / Kerri M. Carlson and Harry T. Orr. Spinocerebellar ataxia type 2 / Stefan M. Pulst. Machado-Joseph disease/spinocerebellar ataxia type 3 / Henry Paulson. Spinocerebellar ataxia type 6 / Hidehiro Mizusawa and Kinya Ishikawa. Pathogenesis of spinocerebellar ataxia type 7: new insights from mouse models and ataxin-7 function / Dominique Helmlinger and Didier Devys. Spinocerebellar ataxia type 7: clinical features to cellular pathogenesis / Gwenn A. Garden ... [et al.] Molecular genetics of spinocerebellar ataxia type 8 / Yoshio Ikeda ... [et al.] Spinocerebellar ataxia type 10: a disease caused by an expanded (ATTCT)n pentanucleotide repeat / Tetsuo Ashizawa. DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion / Vladimir N. Potman ... [et al.] Spinocerebellar ataxia type 12 / Susan E. Holmes ... [et al.] Spinocerebellar ataxia 17 and Huntington's disease-like 4 / Giovanni Stevanin and Alexis Brice -- Other polyamino acid repeats. Polyalanine and polyglutamine diseases: possible common mechanisms? / Aida Abu-Baker and Guy A. Rouleau -- Biophysics of polyQ. Chemical and physical properties of polyglutamine repeat sequences / Ronald Wetzel -- In vivo instability studies. Somatic mosaicism of expanded CAG·CTG repeats in humans and mice: dynamics, mechanisms, and consequences / Peggy F. Shelbourne and Darren G. Monckton. Transgenic mouse models of unstable trinucleotide repeats: toward an understanding of disease-associated repeat size mutation / Mário Gomes-Pereira, Laurent Foiry, and Geneviève Gourdon -- Insect models. Drosophila models of polyglutamine disorders / George R. Jackson, Tzu-Kang Sang, and J. Paul Taylor -- Instability mechanisms in vivo and in vitro. Involvement of genetic recombination in microsatellite instability / Ruhee Dere, Micheal L. Hebert, and Marek Napierala. Bending the rules: unusual nucleic acid structures and disease pathology in the repeat expansion diseases / Karen Usdin. Replication of expandable DNA repeats / Sergei M. Mirkin. Error-prone repair of slipped (CTG)·(CAG) repeats and disease-associated expansions / Gagan B. Panigrahi ... [et al.] DNA repair models for understanding triplet repeat instability / Yuan Liu, Rajendra Prasad, and Samuel H. Wilson. Models of repair underlying trinucleotide DNA expansion / Irina V. Kovtun and Cynthia T. McMurray. Transcription and triplet repeat instability / Yunfu Lin, Vincent Dion, and John H. Wilson. Structural characteristics of trinucleotide repeats in transcripts / Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, and Marek Napierala -- Mutations in flanking sequences. Gross rearrangements caused by long triplet and other repeat sequences / Albino Bacolla [et al.] -- Cancer and genetic instability. Microsatellite instability in cancer / Michael J. Siciliano.
  • Digital
    [Laura Dean, Johanna McEntyre].
    Digital : NCBI Bookshelf2004
  • Digital
    edited by D.A. Christie and E.M. Tansey.
    Digital : Wellcome Trust2003
  • Digital
    Jeffrey E. Green, Thomas Ried, editors.
    Digital : Springer2012
    Overview of designing genetically engineered mouse (GEM) models -- Use of Cre-loxP technology and inducible systems to generate mouse models of cancer -- Using recombineering technology to create genetically engineered mouse models -- Insertional mutagenesis for generating mouse models of cancer -- RCAS/TVA somatic gene transfer method in modeling human cancer -- Target-selected ENU mutagenesis to develop cancer models in the rat -- Tumor pathology of genetically engineered mice: genomic pathology -- Genomic DNA copy number alterations in mouse cancer models and human cancer -- Characterization of chromosomal translocations in mouse models of hematological malignancies using spectral karyotyping, FISH, and immunocytochemistry -- Expression profiling of mouse models of human cancer: model categorization and guidance for preclinical testing -- Imaging mouse models of human cancer -- Identifying mammary epithelial stem and progenitor cells -- Differentiation programs in development and cancer -- Roles of p53 and pRB tumor suppressor networks in human cancer: insight from studies in the engineered mouse -- Mouse models for colorectal cancer -- Src family tyrosine kinases: implications for mammary tumor progression -- Maspin and suppresion of tumor metastasis -- Epigenetic mouse models -- Modeling transforming growth factor-ss signalling in cancer -- Modeling stromal-epithelial interactions -- Utilizing mouse models of human cancer for assessing immune modulation of cancer development -- Transplanted tumor models for preclinical drug testing and the potential benefit of genetically engineered mouse models -- Development and use of genetically tractable preclinical mouse models -- Animal models for breast cancer prevention research -- Oncogene addiction: mouse models and clinical relevance for molecularly targeted therapies -- Mouse models in preclinical drug development: applications to CNS models -- Mouse models of human cancer: role in preclinical testing and personalized medicine -- Mighty, bow how useful? The emerging role of genetically engineered mice in cancer drug discovery and development.
  • Digital
    volume editors, Pascale Piguet, Philippe Poindron.
    Digital : Karger2012
    Genetically modified organisms : concepts and methods -- Restriction enzymes : from their discovery to their applications -- Transforming growth factor-beta superfamily : animal models for development and disease -- Transfection of human neuroblastoma cells with Alzheimer's Disease brain hallmarks as a promising strategy to investigate the role of neurosteroidogenesis in neuroprotection -- Investigating therapeutic strategies for Fragile X syndrome in mice -- Innovative therapeutic perspectives in neuromuscular diseases -- Gene therapy for cancer treatment : state of the art -- Manipulating the mitochondrial genetic system.
  • Digital
    Kenro Kusumi, Sally L. Dunwoodie, editors.
    Digital : Springer2010
  • Digital
    volume editors, Anna L. Gloyn, Oxford, Mark I. McCarthy, Oxford.
    Digital : Karger2014
    Genome-wide association studies in type 2 diabetes / Beer, N.L.; McCarthy, M.I. -- Fine mapping type 2 diabetes susceptibility loci / Morris, A.P. -- Whole genome and exome sequencing of type 2 diabetes / Gaulton, K.; Flannick, J.; Fuchsberger, C. -- Genome-wide association studies of glycaemic traits : a magical journey / Florez, J.C.; Barroso, I. -- Genome-wide association studies of obesity and related traits / Mohlke, K.L.; Lindgren, C.M. -- Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies / Ellard, S.; De Franco, E. -- Whole-exome sequencing of patients with severe disorders of insulin action / Semple, R.; Barroso, I. -- Epigenetic modifications and type 2 diabetes in humans / Ling, C. -- Insights into ?-cell biology and type 2 diabetes pathogenesis from studies of the islet transcriptome / van de Bunt, M.; Morán, I.; FerrerJ.; McCarthy, M.I. -- Genomics of adipose tissue / Pinnick, K.E.; Karpe, F. -- Translating genetic association signals for diabetes and metabolic traits into molecular mechanisms for disease / Rees, M.G.; Gloyn, A.L. -- Understanding molecular mechanisms for diabetes and obesity through mouse models / Merkestein, M.; Cox, R.; Ashcroft, F. -- Genetics of drug response in diabetes / Pearson, E.R.; Florez, J.C. -- Translating advances in our understanding of the genetics of diabetes into the clinic / Gardner, D.S.; Owen, K.R.; Gloyn, A.L.
  • Digital
    volume editors, B. Wissinger, Susanne Kohl, U. Langenbeck.
    Digital : Karger2003
    Print2003
    A glimpse into genomeland / Langenbeck, U. -- Epidemiology of hereditary ocular disorders / Rosenberg, T. -- Interactions of genes and environment in myopia / Feldkämper, M., Schaeffel, F. -- A molecular perspective on corneal dystrophies / Vincent, A.L., Rootman, D., Munier, F.L., Héon, E. -- Molecular genetics of cataract / Hejtmancik, J.F., Smaoui, N. -- Progress in the genetics of glaucoma / Weisschuh, N., Schiefer U. -- LHON and other optic nerve atrophies: the mitochondrial connection / Howell, N. -- Retinitis pigmentosa: genes, proteins and prospects / Hims, M.M., Diager, S.P., Inglehearn, C.F. -- Bardet-Biedl syndrome and Usher syndrome / Koenig, R. -- Genetic defects in vitamin A metabolism of the retinal pigment epithelium / Thompson, D.A., Gal, A. -- Genetics of macular dystrophies and implications for age-related macular degeneration / Klaver, C.C.W., Allikmets, R. -- Genetics of color vision deficiencies / Deeb, S.S., Kohl, S. -- Gene therapy and animal models for retinal disease / Dejneka, N.S., Rex, T.S., Bennett, J. -- Support for patients loosing [sic] sight / Trauzettel-Klosinski, S., Hahn, G.0A. - Author index -- Subject index.
  • Digital
    Karsten Suhre, editor.
    Digital : Springer2012
  • Digital
    edited by Ortrud K. Steinlein.
    Digital : ScienceDirect2014
  • Digital
    edited by Douglas T. Carrell.
    Digital : Springer2007
    The genetics of male infertility in the era of genomics: tools for progress / Douglas T. Carrell -- The use of cDNA libraries to demonstrate a linkage between transcription and translation in male germ cells / Norman B. Hecht -- Considerations when using array technologies for male factor assessment / Adrian E Platts, David J. Dix, and Stephen A. Krawetz -- Microarray analysis of a large number of single-nucleotide polymorphisms in individual human spermatozoa / Honghua Li ... [et al.] -- Physiological and proteomic approaches to understand human sperm function: prefertilization events / Sarah J. Conner -- Genetics of idiopathic male infertility: the power of a cross-species approach / Angshumoy Roy, Yi-Nan Lin, and Martin M. Matzuk -- The immunocytogenetics of human male meiosis: a progress report / Daniel Topping, Petrice Brown, and Terry Hassold -- The clinical relevance of sperm aneuploidy / Renee H. Martin -- DNA repair genes and genomic instability in severe male factor infertility / Francesca K.E. Gordon and Dolores J. Lamb -- Germ cell-specific genes and posttranscriptional regulation in the testis / Mark S. Fox and Renee A. Reijo Pera -- The genetics of cryptorchidism / Alexander I. Agoulnik and Shu Feng -- The chromatoid body and microRNA pathways in male germ cells / Martti Parvinen ... [et al.] -- Sperm maturation in the epididymis: role of segment-specific microenvironments / Gail A. Cornwall and Hans H. von Horsten -- The structure of the Y chromosome in infertility / Leslie Ayensu-Coker, Collin Bishop, and Jan Rohozinski -- Y chromosome microdeletions and haplotypes / Ken McElreavey ... [et al.] -- The genetics of male infertility: from bench to clinic / David M. de Kretser ... [et al.] -- The future of the diagnosis of male (in)fertility / Christopher De Jonge -- Polymorphisms and male infertility / Csilla Krausz -- The genetics of abnormal protamine expression / Vincent W. Aoki and Douglas T. Carrell -- Chromatin damage and male infertility / Denny Sakkas, Davide Bizzaro, and Gian C. Manicardi -- Clinical evaluation of the genetics of male infertility / Peter N. Schlegel.
  • Digital
    volume editor, Samantha J.L. Knight.
    Digital : Karger2010
    A parent's perspective / Gregory, J.P. -- Mental retardation : definition, classification, and etiology / Regan, R., Willatt, L. -- Technological advances in the molecular cytogenetic diagnosis of mental retardation : telomere testing and genome-wide array analysis / Kaminsky, E.B., Martin, C.L -- The importance of genome architecture in mental retardation / Mefford, H.C -- The clinical evaluation of patients with mental retardation/intellectual disability / Romano, C. -- Database aids for the evaluation of mental retardation / Firth, H.V. Carter, N.P. -- 3D shape and molecular analyses of facial dysmorphology associated with cognitive impairment / Hammond, P., Tassabehji, M. -- Monogenic causes of mental retardation / Raymond, F.L. -- Newly recognized mental retardation microdeletion/duplication syndromes -- Koolen, D.A., de Vries, B.B.A. -- Mendelian CNVs causing mental retardation and developmental disorders -- Vermeesch, J.R., de Ravel, T.J.L. -- Genetic overlaps in mental retardation, autism, and schizophrenia / Kooy, R.F. ... [et al.] -- Chromosome 22q13 rearrangements causing global developmental delay and autistic spectrum Disorder / Bonaglia, M.C. ... [et al.] -- Translating genetics research into a national health service clinical diagnostic environment / Taylor, J.
  • Digital
    volume editor, Jean-Nicolas Volff.
    Digital : Karger2006.
    The genomic basis of disease, mechanisms and assays for genomic disorders / P. Stankiewicz, J.R. Lupski -- Gross deletions and translocations in human genetic disease / S.S. Abeysinghe, N. Chuzhanova, D.N. Cooper -- Nucleotide excision repair and related human diseases / V. Bergoglio, T. Magnaldo -- Oxidative damage to DNA in non-malignant disease / M.D. Evans, M.S. Cooke -- Dominant non-coding repeat expansions in human disease / K.A. Dick ... [et al.] -- Telomeres and telomerase in stem cells during aging and disease / Z. Ju, K.L. Rudolph -- Retrotransposable elements and human disease / P.A. Callinan, M.A. Batzer -- The spindle checkpoint and chromosomal stability / W. Qi, H. Yu -- Protein kinases that regulate chromosome stability and their downstream targets / H. Nojima -- The role of the APC tumor suppressor in chromosomal instability / P. Alberici, R. Fodde -- c-Myc, genomic instability, and disease -- F. Kuttler, S. Mai -- Nijmegen breakage syndrome and functions of the responsible protein, NBS1 / A. Antoccia ... [et al.] -- Werner syndrome, aging, and cancer / A. Ozgenc, L.A. Loeb -- Fanconi anemia / R. Kalb ... [et al.].
  • Digital
    volume editor, Dirk-Henner Lankenau.
    Digital : Springer2007
    From microorganisms to humans, this volume provides an interdisciplinary overview of how genome integrity is maintained. It begins with DNA replication and continues with replicative DNA repair and pleiotropic protein interactions. It also reviews the cellular responses to radiation and genotoxic stress affecting whole genomes.
  • Digital
    Heinz Peter Nasheuer, editor.
    Digital : Springer2010
    Coming full circle: Cyclin-dependent kinases as anti-cancer drug targets / R.P. Fisher -- Core and linker histone modifications involved in the DNA damage response / J.E. Chubb and S. Rea -- Chromatin assembly and signalling the end of DNA repair requires acetylation of histone H3 on lysine 56 / T. Costelloe and N.F. Lowndes -- Structure and function of histone H2AX / D.M. Pinto and A. Flaus -- The initiation step of eukaryotic DNA replication / H. Pospiech, F. Grosse and F.M. Pisani -- Non-coding RNAs: New players in the field of eukaryotic DNA replication / T. Krude -- Function of TopBP1 in Genome Stability / M. Sokka ... [et al.] -- Eukaryotic single-stranded DNA binding proteins: central factors in genome stability / S. Broderick ... [et al.] -- DNA polymerases and mutagenesis in human cancers / E. Crespan, A. Amoroso and G. Maga -- DNA polymerase [eta], a key protein in translesion synthesis in human cells / S. Cruet-Hennequart ... [et al.] -- The mitochondrial DNA polymerase in health and disease / W.C. Copeland -- Centromeres: assembling and propagating epigenetic function / M. Glynn ... [et al.] -- Nucleotide excision repair in higher eukaryotes: mechanism of primary damage recognition in global genome repair / N.I. Rechkunova and O.I. Lavrik -- Nonhomologous DNA end joining (NHEJ) and chromosomal translocations in humans / M.R. Lieber ... [et al.] -- Fluorescence-based quantification of pathway-specific DNA double-strand break repair activities: a powerful method for the analysis of genome destabilizing mechanisms / M. Bohringer and L. Wiesmuller -- Apoptosis: a way to maintain healthy individuals / C. Mondello and A.I. Scovassi -- The use of transgenic mice in cancer and genome stability research / S. Conmy and H.P. Nasheuer.
  • Digital
    edited by Krishnarao Appasani, GeneExpression Systems, Inc. ; forewords by Stephen W. Scherer, Universtiy of Toronto, Canada and Peter M. Visscher, University of Queensland, Australia.
    Digital : Cambridge2016
    Introduction to genome wide association / Krishnarao Appasani and Raghu K. Appasani -- GWAS : a milestone in the road from genotypes to phenotypes / Urko Martinez-Marigorta, Juan Antonio Rodriguez, and Arcadi Navarro -- Introduction to statistical methods in genome-wide association studies / Can Yang, Cong Li, Dongjun Chung, Mengjie Chen, Joel Gelernter, and Hongyu Zhao -- GWAS replicability across time and space / Urko Martinez-Marigorta, Juan Antonio Rodriguez, and Arcadi Navarro -- Genome-wide association studies of body mass index / Tuomas O. Kilpelainen -- Identification of myocardial infarction susceptible genes and their functional analyses / Kouichi Ozaki and Toshihiro Tanaka -- Admixture mapping for disease gene discovery / Randall C. Johnson, Cheryl A. Winkler, and Meredith Yeager -- Genome-wide association analysis in schizophrenia / Sven Stringer, Dorien H. Nieman, Rene S. Kahn, and Eske M. Derks -- Epigenome-wide association studies in neurodevelopmental disorders / Takeo Kubota, Kunio Miyake, and Takae Hirasawa -- Finding SNPs that affect microRNA regulation in disease-associated genomic regions / Laurent F. Thomas and Pal Saetrom -- From linkage to complex associations : the role of GABRA2 as a risk factor for alcohol use / Sandra Villafuerte, Elisa M. Trucco, and Margit Burmeister -- Copy number variation in monozygous twins / Erwin Brosens, K.G. Snoek, D. Veenma, H. Eussen, D. Tibboel, and A. de Klein -- Haplotypes of CpG-related SNPs and association with DNA methylation patterns / Yiyi Ma, Caren E. Smith, Yu-Chi Lee, Laurence D. Parnell, Chao-Qiang Lai, and Jose M. Ordovas -- eQTL mapping / Mengjie Chen, Can Yang, Cong Li, and Hongyu Zhao -- Next-generation sequencing for rare diseases / Elena Bosch and Ferran Casals -- Next-generation sequencing for complex disorders / Ferran Casals and Elena Bosch -- Chromosomal breakpoints in breast cancer co-localize with differentially methylated regions / Man-Hung Eric Tang, Vinay Varadan, Sitharthan Kamalakaran, Michael Q. Zhang, James Hicks, and Nevenka Dimitrova -- Signaling network analysis of genomic alterations predict breast cancer drug targets / Naif Zaman and Edwin Wang -- Pharmacogenetic studies in pediatric acute myeloid leukemia / Neha S. Bhise, Lata Chauhan, and Jatinder K. Lamba -- Pharmacogenomics of antiretroviral drugs / Chonlaphat Sukasem, Apichaya Puangpetch, and Sadeep Medhasi -- Population stratification and its implications : lessons from genome-wide studies / Sheikh Nizamuddin, Rakesh Tamang, and Kumarasamy Thangaraj -- How to solve genetic disease on a population scale / Barry Merriman -- Economics of personalized medicine / Katherine Payne and Martin Eden.
  • Digital
    Evonne Chen Leeper.
    Digital2010
    The neuron-restrictive silencer factor/RE-1 silencing transcription factor (NRSF/REST) is thought to be a negative regulator of neuronal genes in non-neuronal cells. However, evidence of its continued expression and activity in neurons suggests that NRSF may play other roles. A complete knowledge of NRSF target genes in neuronal and non-neuronal cells is the first step to understanding its functions. Using chromatin immunoprecipitation and quantitative PCR, I experimentally tested the occupancy of NRSF in living non-neuronal cells on 113 candidate binding sites predicted on the basis of conservation across the human, mouse, and dog genomes. These tests helped to further refine the prediction algorithm and identified a number of NRSF-bound regulatory microRNAs that may work in a feedforward loop to downregulate NRSF and its co-repressor, CoREST. I next focused on understanding NRSF recruitment in neuron-derived versus non-neuronal cell lines, using chromatin immunoprecipitation paired with ultrahigh-throughput sequencing (ChIP-seq) to get a direct, genome-wide picture of NRSF binding in human neuron-derived and non-neuronal cell lines. I found a large overlap in the NRSF binding pattern between the two cell types, particularly in binding sites found to be strongly or commonly bound. There is a subset of strong sites bound in all cell types, and weaker sites that are more likely to be cell-type specific. These common sites contain the canonical NRSE while the cell line unique sites do not. Finally, I used another ultrahigh-throughput sequencing based method to catalog and quantify all mRNA transcripts in each of the cell lines (RNA-seq) to add target gene expression to the analysis of NRSF function. Common target genes were more likely to be highly expressed in the neuron-derived cell line than in non-neuronal cell lines despite NRSF binding in both. I also found that the neuron-specific binding sites were primarily located in exons and promoters, while common or non-neuronal specific binding sites were primarily located in introns and intergenic regions. Differences in binding strength and target gene expression levels suggest that NRSF has different binding mechanisms and functions in neuron-derived and non-neuronal human cell lines.
  • Digital
    edited by Geoffrey S. Ginsburg and Huntington F. Willard.
    Digital : ClinicalKey2013
    This two-volume set provides an in-depth look at one of the most promising avenues for advances in the diagnosis, prevention and treatment of human disease. The inclusion of the latest information on diagnostic testing, population screening, predicting disease susceptibility, pharmacogenomics and more presents this book as an essential tool for both students and specialists across many biological and medical disciplines, including human genetics and genomics, oncology, neuroscience, cardiology, infectious disease, molecular medicine, and biomedical science, as well as health policy disciplines focusing on ethical, legal, regulatory and economic aspects of genomics and medicine. Volume One Includes: Principles, Methodology and Translational Approaches, takes readers on the journey from principles of human genomics to technology, informatic and computational platforms for genomic medicine, as well as strategies for translating genomic discoveries into advances in personalized clinical care. Volume Two Includes: Genome Discoveries and Clinical Applications presents the latest developments in disease-based genomic and personalized medicine. With chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, this work provides the most comprehensive guide to the principles and practice of genomic and personalized medicine. * Contributions from leaders in the field provide unparalleled insight into current technologies and applications in clinical medicine. * Full colour throughout enhances the utility of this work as the only available comprehensive reference for genomic and personalized medicine. * Discusses scientific foundations and practical applications of new discoveries, as well as ethical, legal/regulatory, and social issues related to the practice of genomic medicine.
  • Digital
    edited by Huntington F. Willard and Geoffrey S. Ginsburg.
    Digital : ScienceDirect2009
    v. 1. Principles, methodology, and translational approaches -- v. 2. Genome discoveries and clinical applications.
  • Digital
    edited by Geoffrey S. Ginsburg, Huntington F. Willard.
    Digital : ClinicalKey2017
    "Genomic and Precision Medicine: Translation and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care"--Publisher's description.
  • Digital
    edited by Sean P. David ; series editors, Geoffrey S. Ginsburd, Huntington F. Willard.
    Digital : ScienceDirect2017
    Digital : ClinicalKey2017
    Genomic medicine in primary care / Samuel G. Johnson -- Overview of policy, ethical, and social considerations in genomic and personalized medicine / Susanne B. Haga -- Educational issues and strategies for genomic medicine / Jean Jenkins and Laura Lyman Rodriguez -- Genetic testing for rare and undiagnosed diseases / Thomas Morgan -- Health risk assessments, family health history, and predictive genetic/pharmacogenetic testing / Maria Esperanza Bergendahl, Lori A. Orlando and Latha Palaniappan -- Pharmacogenetics and pharmcogenomics / J. Kevin Hicks and Howard L. McLeod -- Hypertension / Patricia B. Munroe and Helen R. Warren -- Coronary artery disease / Themistocles L. Assimes -- Lung cancer / Yaron B. Gesthalter, Ehab Billatos and Haseena Kathuria -- Breast cancer / Paul K. Marcom -- Colorectal cancer / Roland P. Kuiper, Robbert D.A. Weren and Ad Geurts van Kessel --Prostate cancer / Wennuan Liu, Rong Na, Carly Conran and Jianfeng Xu -- Asthma / Michael J. McGeachie, Damien C. Croteau-Chonka and Scott T. Weiss -- Diabetes / Miriam S. Udler and Jose C. Florez -- Metabolic syndrome / Matthew B. Lanktree and Robert A. Hegele -- Autism spectrum disorder / Akanaksha Saxena and Maria Chahrour -- Viral hepatitis / Thomas Tu, Keyur Patel and Nicholas A. Shackel.
  • Digital
    George Jabboure Netto, Iris Schrijver, editor.
    Digital : Springer2015
    Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist?s role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.
  • Digital
    edited by James R. Lupski, Paweł Stankiewicz.
    Digital : Springer2006
    The CMT1A duplication: a historical perspective viewed from two sides of an ocean / James R. Lupski and Vincent Timmerman -- Alu elements / Prescott Deininger -- The impact of LINE-1 retrotransposition on the human genome / Amy E. Hulme ... [et al.] -- Ancient transposable elements, processed pseudogenes, and endogenous retroviruses / Adam Pavlicek and Jerzy Jurka -- Segmental duplications / Andrew J. Sharp and Evan E. Eichler -- Non-B DNA and chromosomal rearrangements / Albino Bacolla and Robert D. Wells -- Genetic basis of olfactory deficits / Idan Menashe, Ester Feldmesser, and Doron Lancet -- Genomic organization and function of human centromeres / Huntington F. Willard and M. Katharine Rudd -- Primate chromosome evolution / Stefan Müller -- Genome plasticity in evolution: the centromere repositioning / Mariano Rocchi and Nicoletta Archidiacono -- The CMT1A duplication and HNPP deletion / Vincent Timmerman and James R. Lupski -- Smith-Magenis syndrome deletion, reciprocal duplication dup(17)(p11.2p11.2), and other proximal 17p rearrangements / Paweł Stankiewicz, Weimin Bi, and James R. Lupski -- Chromosome 22q11.2 rearrangement disorders / Bernice E. Morrow -- Neurofibromatosis 1 / Karen Stephens -- Williams-Beuren syndrome / Stephen W. Scherer and Lucy R. Osborne -- Sotos syndrome / Naohiro Kurotaki and Naomichi Matsumoto -- X chromosome rearrangements / Pauline H. Yen -- Pelizaeus-Merzbacher disease and spastic paraplegia type 2 / Ken Inoue -- Y-chromosomal rearrangements and azoospermia / Matthew E. Hurles and Chris Tyler-Smith -- Inversion chromosomes / Orsetta Zuffardi ... [et al.] -- Monosomy 1p36 as a model for the molecular basis of terminal deletions / Blake C. Ballif and Lisa G. Shaffer -- Inv dup(15) and inv dup(22) / Heather E. McDermid and Rachel Wevrick -- Mechanisms underlying neoplasia-associated genomic rearrangements / Thoas Fioretos -- Recombination hotspots in nonallelic homologous recombination / Matthew E. Hurles and James R. Lupski -- Position effects / Paweł Stankiewicz -- Chromosome-engineered mouse models / Pentao Liu -- Array-CGH for the analysis of constitutional genomic rearrangements / Nigel P. Carter ... [et al.] -- Appendix A: Well-characterized rearrangement-based diseases and genome structural features at the locus / Paweł Stankiewicz and James R. Lupski -- Appendix B: Diagnostic potential for chromosome microarray analysis / Paweł Stankiewicz, Sau W. Cheung and Arthur L. Beaudet.
  • Digital
    edited by Jon F. Wilkins.
    Digital : Springer2008
    Print2008
    DNA methylation reprogramming in the germ line / Diane J. Lees-Murdock and Colum P. Walsh -- Control of imprinting at the GNAS cluster / Jo Peters and Christine M. Williamson -- The GNAS locus and pseudohypoparathyroidism / Murat Bastepe -- Imprinted genes, postnatal adaptations, and enduring effects on energy homeostasis / Margalida Frontera ... [et al.] -- What are imprinted genes doing in the brain? / William Davies ... [et al.] -- Genomic imprinting and human psychology : cognition, behavior, and pathology / Lisa M. Goos and Gillian Ragsdale -- Genomic imprinting in plants / Olivier Garnier, Sylvia Laouiellé-Duprat, and Charles Spillane -- Imprinted genes and human disease : an evolutionary perspective / Francisco Úbeda and Jon F. Wilkins -- Evolutionary theories of imprinting ; enough already! / Tom Moore and Walter Mills.
  • Digital
    Chris Maxwell, Cal Roskelley, editors.
    Digital : Springer2015
    Metastasis is the primary cause of mortality associated with cancer, and tumor genomic heterogeneity is a likely source for the cells that support cancer progression, resistance to therapy, and disease relapse. This book connects cancer metastasis with genomic instability in a comprehensive manner. Section 1 outlines the fundamental mechanisms responsible for these cellular and tissue phenotypes. Section 2 discusses in silico, in vitro, and in vivo models used for the experimental study of these processes. Section 3 reviews emerging themes (ex., microenvironment, mechanotransduction, and immunomodulation), and Section 4 highlights new therapeutic approaches to overcome the unique challenges presented by the heterogeneous and metastatic tumor. This book is intended for undergraduates and postgraduates with an interest in the areas of medicine, oncology, and cancer biology as well as for the content expert searching for thorough reviews of current knowledge in these areas.
  • Digital
    Digital : DOE Human Genome Program2004-
  • Digital
    J.P. Gustafson, J. Taylor, and G. Stacey, editors.
    Digital : Springer2008
  • Digital
    Ken Ho, editor.
    Digital : Springer2011
    Growth Hormone Receptor in Growth -- Ghrelin in the Regulation of GH Secretion and Other Pituitary Hormones -- Growth Hormone Pulsatility and its Impact on Growth and Metabolism in Humans -- Metabolic Actions of Growth Hormone -- Molecular Genetics of Congenital Growth Hormone Deficiency -- Structural Abnormalities in Congenital Growth Hormone Deficiency -- Genetic Causes of Familial Pituitary Adenomas -- The Epidemiology of Growth Hormone Deficiency -- Diagnosis of Growth Hormone Deficiency in Adults -- Transition from Puberty to Adulthood -- Issues in Long-Term Management of Adults with Growth Hormone Deficiency -- Quality of Life in Acromegaly and Growth Hormone Deficiency -- The Value of GH and IGF-I Measurements in the Management of Acromegaly -- The Role of Somatostatin Analogues in Treatment of Acromegaly -- The Role of External Beam Radiation Therapy and Stereotactic Radiosurgery in Acromegaly -- Mortality and Morbidity in Acromegaly: Impact of Disease Control -- GHR Antagonist: Efficacy and Safety -- Long-Acting Growth Hormone Analogues -- Growth Hormone Supplementation in the Elderly -- Growth Hormone in Sports: Is There Evidence of Benefit?
  • Digital
    edited by Trygve Tollefsbol.
    Digital : ScienceDirect2011
  • Digital
    edited by Trygve O. Tollefsbol.
    Digital : ScienceDirect2017
    Section I. Overview -- Section II. Molecular mechanisms of epigenetics -- Section III. Methods in epigenetics -- Section IV. Model organisms of epigenetics -- Section V. Factors influencing epigenetic changes -- Section VI. Evolutionary epigenetics -- Section VII. Epigenetic epidemiology -- Section VIII. Epigenetics and human disease -- Section IX. Epigenetic therapy -- Section X. The future of epigenetics.
  • Digital
    Michael S. Ritsner, editor.
    v. 1. Neuropsychological endophenotypes and biomarkers -- v. 2. Neuroanatomical and neuroimaging endophenolypes and biomarkers -- v. 3. Metabolic and peripheral biomarkers -- v. 4. Molecular genetic and genomic markers.
  • Digital
    editors, D.J. Balding, M. Bishop, C. Cannings.
    Digital : Wileyv. 1-2, 2007
    Printv. 1-2.
  • Digital
    Rikard Holmdahl, editor.
    Digital : Springer2006
    Print2006
  • Digital
    G. Kuhlenbäumer ... [et al.] (eds.).
    Digital : Springer2005
    Print2005
  • Digital
    edited by E.M. Jones and E.M. Tansey..
    Digital : Wellcome Trust2015
  • Digital
    Richards, Julia E.; Hawley, R. Scott.
    Digital : ScienceDirect2011
    As genetic issues play a growing role in health practice and public policy, new knowledge in this field will continue to have significant implications for individuals and society. Written to communicate sound and modern science in an accessible way for professionals and students with various levels of scientific background, this thoroughly revised edition of The Human Genome contributes to creating a genetically literate research and clinical population. With case studies and introductory vignettes which illustrate a wide range of perspectives on complex topics in genetics and updated material on the latest research on disease-specific topics, this book serves as a valuable resource for students and working professionals alike. Full-color illustrations enhance and reinforce key concepts and themes * Chapters include interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers.
  • Print
    edited by Muin J. Khoury ... [et al.].
    Print2010
    Status: Not Checked OutLane Catalog Record
    Human genome epidemiology: the road map revisited -- Principles of analysis of germline genetics -- The public health genomics enterprise -- Navigating the evolving knowledge of human genetic variation in health and disease -- The global emergence of epidemiological biobanks: opportunities and challenges -- Case-control and cohort studies in the age of genome-wide associations -- The emergence of networks in human genome epidemiology: challenges and opportunities -- Design and analysis issues in genome-wide association studies -- The challenge of assessing complex gene-environment and gene-gene interactions -- STrengthening the REporting of genetic association studies (STREGA)-an extension of the STROBE statement -- Integration of the evidence on gene-disease associations: methods of HuGE reviews -- Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases -- Colorectal cancer -- Childhood leukemias -- Bladder cancer -- Type 2 diabetes -- Osteoporosis -- Preterm birth -- Coronary heart disease -- Schizophrenia -- Mendelian randomization: the contribution of genetic epidemiology to elucidating environmentally modifiable causes of disease -- Evaluation of predictive genetic tests for common diseases: bridging epidemiological, clinical, and public health measures -- The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP working group -- Rapid, evidence-based reviews of genetic tests -- Role of social and behavioral research in assessing the utility of genetic information -- Assessing the evidence for clinical utility in newborn screening -- The role of epidemiology in assessing the potential clinical impact of pharmacogenomics -- The human epigenome and cancer -- The use of family history in public health practice: the epidemiologic view -- Cytochrome P450 testing in the treatment of depression -- A rapid-ACCE review of CYP2CP and VKORC1 allele testing to inform warfarin dosing in adults at elevated risk for thrombotic events to avoid serious bleeding -- Hereditary hemochromatosis: population screening for gene mutations.
  • Digital
    Jan Schildmann...[et al.], editors.
    Digital : Springer2012
    Part 1. Historical and Socio-Cultural Contexts in Medical Research / British Responses to Nazi Medical War Crimes / Fiona McClenaghan -- History and its Relevance in the Development and Teaching of Research Ethics / Rael D. Strous -- Human Embryo Research and Islamic Bioethics: A View from Iran / Mansooreh Saniei -- From Farming to Pharming: Transcending of Bodily Existence as a Question of Medical Ethics in an Intercultural Context / Axel Siegemund -- Introduction / Jan Schildmann, Verena Sandow, Oliver Rauprich and Jochen Vollmann -- Part 2. Considerations on Ethical and Legal Regulations for Medical Research / Rethinking the Therapeutic Obligation in Clinical Research / Nunziata Comoretto -- Biomedical Research in Developing Countries and International Human Rights Law / Ilja R. Pavone -- Research Involving Human Subjects and Human Biological Material from a European Patent Law Perspective. Autonomy, Commodification, Patentability / Tomasz Zimny -- The Development and Validation of a Guide for Peruvian Research Ethics Committees to Assist in the Review of Ethical-Scientific Aspects of Clinical Trials / Susy Olave Quispe, Duilio Fuentes Delgado, Gabriela Minaya Martínez, Rosa Surco Ibarra and Martín Yagui Moscoso, et al. -- Part 3. Conflicts in Medical Research / Conflicts of Interest in Medical Research: What can Ethics Contribute? / Verena Sandow, Jan Schildmann and Jochen Vollmann -- Research Ethics in Genomics Research: Feedback of Individual Genetic Data to Research Participants / Annelien L. Bredenoord and Johannes J. M. van Delden -- Regulating "Higher Risk, No Direct Benefit" Studies with Children: Challenging the US Federal Regulations / Anna E. Westra, Jan M. Wit, Rám N. Sukhai and Inez D. de Beaufort -- Part 4. New Developments in Medical Research and Ethical Implications / A Paradigm Change in Research Ethics / Rieke van der Graaf and Johannes J. M. van Delden -- Translation of Cancer Molecular Biomarkers: Ethical and Epistemological Issues / Flavio D'Abramo and Cecilia Guastadisegni -- Rethinking the Ethics of Human Biomedical Non-Interventional Research / Kristi L{tilde}ouk.
  • Print
    Tom Strachan and Andrew Read.
    Print2011
    Status: Not Checked OutLane Catalog Record
    Nucleic acid structure and gene expression -- Chromosome structure and function -- Genes in pedigrees and populations -- Cells and cell-cell communication -- Principles of development -- Amplifying DNA : cell-based DNA cloning and PCR -- Nucleic acid hybridization : principles and applications -- Analyzing the structure and expression of genes and genomes -- Organization of the human genome -- Model organisms, comparative genomics, and evolution -- Human gene expression -- Studying gene function in the post-genome era -- Human genetic variability and its consequences -- Genetic mapping of mendelian characters -- Mapping genes conferring susceptibility to complex diseases -- Identifying human disease genes and susceptibility factors -- Cancer genetics -- Genetic testing of individuals -- Pharmacogenetics, personalized medicine and population screening -- New approaches to therapy -- Genetic manipulation of animals for modeling disease and investigating gene function -- Genetic approaches to treating disease.
  • Digital
    Alexander Robert Red Eagle.
    Digital2011
    Obesity is recognized as a state of chronic inflammation associated with the development of insulin resistance and type 2 diabetes. Macrophages play an important role in this process by homing to adipose tissue and perpetuating this inflammatory state. In the setting of obesity, there is a recruitment of "classically activated, " or inflammatory macrophages. However, macrophages are present throughout the body in important metabolic organs such as adipose tissue and the liver before the development of obesity. Resident tissue macrophages in these metabolic organs reside in a state of "alternative activation, " an anti-inflammatory activation state driven by the Interleukin-4/STAT6 signaling pathway. Alternatively activated macrophages activated by the IL-4/STAT6 axis rely on fatty acid metabolism to drive their metabolic demand. Peroxisome proliferatoractivated receptors, or PPARs are fatty acid sensors that drive metabolic processes in a variety of tissues. In the first two chapters, we demonstrate that PPAR[lowercase Gamma] and PPAR[lowercase Delta] are required for alternative macrophage activation in adipose tissue macrophages and Kupffer cells of the liver respectively. Absence of either transcription factor in macrophages leads to the development of obesity induced insulin resistance. Macrophage co-culture experiments with adipocytes or hepatocytes demonstrate the important metabolic impact that PPAR[lowercase Gamma] and PPAR[lowercase Delta] play in macrophages from these two tissues. The IL-4/STAT6 axis also plays an important role in metabolic tissues as well as tissue macrophages. In the final chapter, we demonstrate that IL-4 is capable of activating STAT6 is the liver. We demonstrate that IL-4 acts through STAT6 to repress the transcriptional activity of PPAR[Alpha] in the liver and improves insulin sensitivity in the setting of obesity. Induction of an inflammatory response producing IL-4 also leads to an improvement in insulin sensitivity, indicating that not all inflammation is deleterious to insulin signaling. Together, these results demonstrate that the IL-4/STAT6 signaling pathway plays an important role in both the immune system and metabolic tissues to improve insulin sensitivity.
  • Digital
    Jorge Oksenberg, David Brassat [editors].
    Digital : Springer2006
    HLA and autoimmunity : structural basis of immune recognition / Kai W. Wucherpfennig -- Genomic variation and autoimmune disease / Silke Schmidt and Lisa F. Barcellos -- Endocrine diseases : type I diabetes mellitus / Regine Bergholdt, Michael F. McDermott, and Flemming Pociot -- Endocrine diseases : Graves' and Hashimoto's diseases / Yoshiyuki Ban and Yaron Tomer -- Central and peripheral nervous system diseases / Dorothée Chabas, Isabelle Cournu-Rebeix, and Bertrand Fontaine -- Immunogenetics of rheumatoid arthritis, systemic sclerosis, and systemic lupus erythematosus / Allison Porter and J. Lee Nelson -- Gastroenterologic and hepatic diseases / Marcela K. Tello-Ruiz, Emily C. Walsh, and John D. Rioux -- Inflammatory myopathies : dermatomyositis, polymyositis, and inclusion body myositis / Renato Mantegazza and Pia Bernasconi -- Hematologic diseases : autoimmune hemolytic anemia and immune thrombocytopenic purpura / Mattias Olsson ... [et al.] -- Genetics of autoimmune myocarditis / Mehmet L. Guler, Davinna Ligons, and Noel R. Rose.
  • Digital
    Wafik S. El-Deiry, editor.
    Digital : Springer2013
    Print2013
    Novel antineoplastics targeting genetic changes in colorectal cancer / Jamal Joudeh...[et al.] -- Update on clinical trials: genetic targets in breast cancer / Bora Lim, Leah V. Cream, Harold A. Harvey -- Impace of genetic targets on cancer therapy in esophagogastric cancer / Yixing Jiang -- Impact of genetic targets on cancer therapy: hapatocellular cancer / Osama Hamed...[et al.] -- Toward the goal of personalizaed therapy in pancreatic cancer by targeting the molecular phenotype / Nelson S. Yee -- Impact of genetic markers on treatment of non-small cell lung cancer / Nicholas Lamparella, Amit Barochia, Salah Almokadem -- Impact of genetic targets on therapy in head and neck squamous cell carcinoma / Irina Chaikhoutdinov, David Goldenberg -- Tyrosine kinase targeted treatment of chronic myelogenous leukemia and other myeloproliferative neoplasms / Ajit Bisen, David F. Claxton -- Targeted tehrapy of multiple myeloma / Nathan G. Dolloff, Giampaolo Talamo -- Current and future trials of targeted therapies and cutaneous melanoma / Matthew S. Evans...[et al.] -- Current approaches to epigenetic therapy for the treatment of mantle cell lymphoma / Vikas Ghai...[et al.] -- Impact of genetic targets on primary brain tumor therapy: what's ready for prime time / O. Zalatimo...[et al.] -- Rational therapy for renal cell carcinoma based on its genetic targets / Jaime Messer, Joseph Drabick, Matthew Kang -- Molecular and genetic markers of follicular-cell thyroid cancer : etiology and diagnostic and therapeutic opportunities / Neerav Goyal...[et al.] -- Genetic targets in pediatric acute lymphoblastic leukemia / Chandrika Gowda, Sinisa Dovat -- Emerging molecular therapies for the treatment of acute lymphoblastic leukemia / Monali Vasekar...[et al.] -- Impact of genetic targets on prostate cancer therapy / Hassan Sheikh...[et al.] -- Small-cell lung cancer : an update on targeted therapues / Monika Joshi, Ayodele Ayoola, Chandra P. Belani -- Impact of genetic targets on cancer therapy in acute myelogenous leukemia / Mithun Vinod Shah, Amit Barochia, Thomas P. Loughran.
  • Digital
    Jean-Marie Saudubray, Georges van den Berghe, John H. Walter (editors).
    Digital : Springer2012
    I. Diagnosis and Treatment: General Principles -- 1. Clinical Approach to Inborn Errors of Metabolism in Pediatrics / Jean-Marie Saudubray -- 2. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations / Frédéric Sedel -- 3. Newborn Screening for Inborn Errors of Metabolism / Bridget Wilcken, Piero Rinaldo, Dietrich Matern -- 4. Diagnostic Procedures: Functional Tests and Post-mortem Protocol / Guy Touati, Fanny Mochel, Daniel Rabier -- 5. Emergency Treatments / Carlo Dionisi-Vici, Hélène Ogier de Baulny -- II. Disorders of Carbohydrate Metabolism -- 6. The Glycogen Storage Diseases and Related Disorders / Pascal Laforêt, David A. Weinstein, G. Peter, A. Smit -- 7. Disorders of Galactose Metabolism / Gerard T. Berry, John H. Walter -- 8. Disorders of the Pentose Phosphate Pathway / Mirjam M.C. Wamelink, Vassili Valayannopoulos, Cornelis Jakobs -- 9. Disorders of Fructose Metabolism / Beat Steinmann, René Santer -- 10. Persistent Hyperinsulinaemic Hypoglycaemia / Pascale de Lonlay, Jean-Marie Saudubray -- 11. Disorders of Glucose Transport / René Santer, Jörg Klepper -- III. Disorders of Mitochondrial Energy Metabolism -- 12. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle / Linda J. De Meirleir, Michèle Brivet, Angeles Garcia-Cazorla -- 13. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways / Andrew A.M. Morris, Ute Spiekerkoetter -- 14. Disorders of Ketogenesis and Ketolysis / Andrew A.M. Morris -- 15. Defects of the Respiratory Chain / Arnold Munnich, Agnès Rötig, Marlène Rio -- 16. Creatine Deficiency Syndromes / Sylvia Stöckler-Ipsiroglu, Saadet Mercimek- Mahmutoglu, Gajja S. Salomons -- IV. Disorders of Amino Acid Metabolism and Transport -- 17. Hyperphenylalaninaemia / John H. Walter, Robin H. Lachmann, Peter Burgard -- 18. 18 Disorders of Tyrosine Metabolism / Anupam Chakrapani, Paul Gissen, Patrick McKiernan -- 19. Branched-chain Organic Acidurias/Acidaemias / Hélène Ogier de Baulny, Carlo Dionisi-Vici, Udo Wendel -- 20. Disorders of the Urea Cycle and Related Enzymes / Frits A. Wijburg, Marie-Cécile Nassogne -- 21. Disorders of Sulfur Amino Acid Metabolism / Generoso Andria, Brian Fowler, Gianfranco Sebastio -- 22. Disorders of Ornithine Metabolism / Matthias R. Baumgartner, David Valle -- 23. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism / Georg F. Hoffmann, Stefan Kölker -- 24. Nonketotic Hyperglycinaemia (Glycine Encephalopathy) / Olivier Dulac, Marie-Odile Rolland --25. Disorders of Proline and Serine Metabolism / Jaak Jaeken -- 26. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder / Kirsti Näntö-Salonen, Harri Niinikoski, Olli G. Simell -- V. Vitamin-Responsive Disorders -- 27. Biotin-responsive Disorders / Matthias R. Baumgartner, Terttu Suormala -- 28. Disorders of Cobalamin and Folate Transport and Metabolism / David Watkins, David S. Rosenblatt, Brian Fowler -- VI. Neurotransmitter and Small Peptide Disorders -- 29. Disorders of Neurotransmission / Àngels García-Cazorla, K. Michael Gibson, Peter T. Clayton -- 30. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides / Ertan Mayatepek, Jaak Jaeken -- 31. Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency / Valerie Walker, Ron A. Wevers -- VII. Disorders of Lipid and Bile Acid Metabolism -- 32. Dyslipidaemias / Annabelle Rodriguez-Oquendo, Peter O. Kwiterovich, Jr. -- 33. Disorders of Cholesterol Synthesis / Hans R. Waterham, Peter T. Clayton -- 34. Disorders of Bile Acid Synthesis / Peter T. Clayton -- 35. Disorders of Phospholipid and Glycosphingolipid Synthesis / Foudil Lamari, Fréderic Sédel, Jean-Marie Saudubray -- VIII. Disorders of Nucleic Acid and Heme Metabolism -- 36. Disorders of Purine and Pyrimidine Metabolism / Georges van den Berghe, M.-Françoise Vincent, Sandrine Marie -- 37. Disorders of Haem Biosynthesis / Charles Marquez Lourenço, Chul Lee, Karl E. Anderson -- IX. Disorders of Metal Transport -- 38. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc / Marc Bierings, Peter Clayton, Roderick H.J. Houwen -- X. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- 39. Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses / Marie T. Vanier, Catherine Caillaud -- 40. Mucopolysaccharidoses and Oligosaccharidoses / J. Ed Wraith -- 41. Peroxisomal Disorders / Bwee Tien Poll-The, Patrick Aubourg, Ronald J.A. Wanders -- 42. Congenital Disorders of Glycosylation / Jaak Jaeken -- 43. Cystinosis / Michel Broyer, Patrick Niaudet -- Appendix A. Medications Used in the Treatment of Inborn Errors / JH Walter and JE Wraith.
  • Digital
    Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (eds.).
    Digital : Springer2016
    Section I Diagnosis and Treatment: General Principles -- Section II Disorders of Carbohydrate Metabolism -- Section III Disorders of Mitochondrial Energy Metabolism -- Section IV Disorders of Amino Acid Metabolism and Transport -- Section V Vitamin-Responsive Disorders -- Section VI Neurotransmitter and Small Peptide Disorders -- Section VII Disorders of Lipid and Bile Acid Metabolism -- Section VIII Disorders of Nucleic and Heme Metabolism -- 35 Disorders of Purine and Pyrimidine Metabolism -- 36 Disorders of Haem Biosynthesis -- Section IX Disorders of Metal Transport -- Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Section XI Appendices.
  • Digital
    Tobias Fischer, Martin Langanke, Paul Marschall, Susanne Michl, editors.
    Digital : Springer2015
    In 2009 the University Medicine Greifswald launched the "Greifswald Approach to Individualized Medicine" (GANI_MED) to implement biomarker-based individualized diagnostic and therapeutic strategies in clinical settings. Individualized Medicine (IM) has led not only to controversies about its potentials, but also about its societal, ethical and health economic implications. This anthology focusses on these areas and includes ? next to clinical examples illustrating how the integrated analysis of biomarkers leads to significant improvement of therapeutic outcomes for a subgroup of patients ? chapters about the definition, history and epistemology of IM. Additionally there is a focus on conceptual philosophical questions as well as challenges for applied research ethics (informed consent process, the IT-based consent management and the handling of incidental findings). Finally it pays attention to health economic aspects. The possibilities of IM to initiate a paradigm shift in the German health care provision are investigated. Furthermore, it is asked whether the G-DRG system is ready for the implementation of such approaches into clinical routine.
  • Digital
    Jessica Minor.
    Digital : Springer2015
    Introduction -- Predictive Genetic Testing -- The History and Components of Informed Consent -- Revised Model of Informed Consent -- Application of the Revised Model -- Conclusion.
  • Digital
    C. Neal Ellis, editor.
    Digital : Springer2011
    Obtaining and using genetic information -- Cancer and genetic counseling -- An ethos of genetic testing -- Hereditary breast cancer syndromes -- Gastrointestinal polyposis syndromes -- Familial colorectal cancer type X -- The familial atypical multiple mole melanoma (FAMMM)-pancreatic carcinoma (PC) syndrome -- Desmoid disease -- Hereditary nonpolyposis colorectal cancer -- Hereditary ovarian cancer and other gynecologic malignancies.
  • Digital
    edited by Carla E.M. Hollak and Robin Lachmann.
    Digital : Oxford Medicine Online2016
    As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.
  • Digital
    Adam J. Dupuy, David A. Largaespada, editors.
    Digital : Springer2011
    1. Insertional Mutagenesis: A Powerful Tool in Cancer Research -- 2. Retroviral Insertional Mutagenesis in Mouse Models of Leukemia and Lymphoma -- 3. Gene Discovery by MMTV Mediated Insertional Mutagenesis -- 4. Chicken Models of Retroviral Insertional Mutagenesis -- 5. Sleeping Beauty Models of Cancer -- 6. Insertional Mutagenesis in Hematopoietic Cells: Lessons Learned from Adverse Events in Clinical Gene Therapy Trials -- 7. Bioinformatics of High-Throughput Insertional Mutagenesis -- Index.
  • Digital
    Eugene Rosenberg.
    Digital : ScienceDirect2017
    It's in Your DNA: From Discovery to Structure, Function and Role in Evolution, Cancer and Aging describes, in a clear, approachable manner, the progression of the experiments that eventually led to our current understanding of DNA. This fascinating work tells the whole story from the discovery of DNA and its structure, how it replicates, codes for proteins, and our current ability to analyze and manipulate it in genetic engineering to begin to understand the central role of DNA in evolution, cancer, and aging. While telling the scientific story of DNA, this captivating treatise is further enhanced by brief sketches of the colorful lives and personalities of the key scientists and pioneers of DNA research. Major discoveries by Meischer, Darwin, and Mendel and their impacts are discussed, including the merging of the disciplines of genetics, evolutionary biology, and nucleic acid biochemistry, giving rise to molecular genetics. After tracing development of the gene concept, critical experiments are described and a new biological paradigm, the hologenome concept of evolution, is introduced and described. The final two chapters of the work focus on DNA as it relates to cancer and gerontology. This book provides readers with much-needed knowledge to help advance their understanding of the subject and stimulate further research. It will appeal to researchers, students, and others with diverse backgrounds within or beyond the life sciences, including those in biochemistry, genetics/molecular genetics, evolutionary biology, epidemiology, oncology, gerontology, cell biology, microbiology, and anyone interested in these mechanisms in life.
  • Digital
    by David Escors, Karine Breckpot, Frederick Arce, Grazyna Kochan, Holly Stephenson.
    Digital : Springer2012
    Annotation Gene therapy was conceived during the early and mid part of the 20th century. At first, it was considered a revolutionary biomedical procedure, which could potentially cure any disease for which the molecular bases were understood. Since then, gene therapy has gone through many stages and has evolved from a nearly unrealistic perspective to a real life application. Clinical efficacy in humans was demonstrated at the beginning of this century after its successful application in small-scale clinical trials to cure severe immunodeficiency in children. However, their successes were overshadowed some time later by the occurrence of vector-related leukaemia in a number of treated children. It is in this context that lentiviral vectors have appeared, with improved efficiency and, possibly, increased biosafety. Very recently, the first clinical trials with lentivectors have been carried out with some success. This Brief firstly defines gene therapy, and places lentivectors within this fascinating therapeutic strategy. Then follows a comprehensive description of the development of retroviral and lentiviral vectors and how to specifically target distinct cell types and tissues. The authors also discuss the application of lentivector gene therapy for the treatment of cancer and autoimmune diseases, ending with the application of lentivectors in human gene therapy clinical trials.
  • Digital
    Susan Schmerler.
    Digital : Springer2008
    Sources of liability: Forms of legal complaints -- Duty as an element of a lawsuit: obligations and responsibilities -- Duty as an element of a lawsuit: sources of standards -- Duty as an element of a lawsuit: procedural requirments -- Breach, causation, and damages as elements of a lawsuit -- Defenses to a lawsuit -- Communication.
  • Digital
    by Yael Hashiloni-Dolev.
    Digital : Springer2007
  • Digital
    Kevin V. Morris, editor.
    Digital : Springer2016
    Understanding the Complex Circuitry of lncRNAs at the X-inactivation Center and its Implications in Disease Conditions -- Long Non-coding RNA ANRIL and Polycomb in Human Cancers and Cardiovascular Disease -- Form and function of exosome associated long non-coding RNAs in cancer -- Long Non-coding RNAs in Lung Cancer -- Pseudogene-expressed RNAs: Emerging roles in gene regulation and disease -- Functional long non-coding RNAs in vascular smooth muscle cells -- Long Non-coding RNAs as Targets and Regulators of Nuclear Hormone Receptors -- Non-coding transcriptional landscape in human aging -- LncRNAs in stress response -- Expression Specificity of Disease-Associated lncRNAs: towards Personalized Medicine. .
  • Digital
    Bart de Strooper, Yves Christen, editors.
    Digital : Springer2010
  • Digital
    Merlin G. Butler, Phillip D.K. Lee, Barbara Y. Whitman, editors.
    Digital : Springer2006
    Clinical findings and natural history of Prader-Willi syndrome / Merlin G. Butler, Jeanne M. Hanchett, and Travis Thompson -- Diagnostic criteria for Prader-Willi syndrome / Shawn E. McCandless and Suzanne B. Cassidy -- Molecular genetic findings in Prader-Willi syndrome / Karin Buiting and Bernhard Horsthemke -- Laboratory testing for Prader-Willi syndrome / Kristin G. Monaghan and Daniel L. Van Dyke -- Medical considerations in Prader-Willi syndrome / Urs Eiholzer and Phillip D.K. Lee -- Gastrointestinal system, obesity, and body composition / Ann O. Scheimann, Phillip D.K.Lee, and Kenneth J. Ellis -- Growth hormone and Prader-Willi syndrome / Aaron L. Carrel, Phillip D.K. Lee, and Harriette R. Mogul -- Neurodevelopmental and neuropsychological aspects of Prader-Willi syndrome / Barbara Y. Whitman and Travis Thompson -- Speech and language disorders associated with Prader-Willi syndrome / Barbara A. Lewis -- Motor and developmental interventions / Toni Goelz -- Educational considerations for children with Prader-Willi syndrome / Naomi Chedd, Karen Levine, and Robert H. Wharton -- Tools for psychological and behavioral management / Barbara Y. Whitman and Kevin Jackson -- Educational and social issues for adolescents with Prader-Willi syndrome / Barbara J. Goff -- Transition from adolescence to young adulthood: the special case of Prader-Willi syndrome / Ellie Kazemi and Robert M. Hodapp -- Vocational training for people with Prader-Willi syndrome / Steve Drago -- Residential care for adults with Prader-Willi syndrome / Mary K. Ziccardi -- Inpatient crisis intervention for persons with Prader-Willi syndrome / Linda M. Gourash, James E. Hanchett, and Janice L. Forster -- Social work interventions: advocacy and support for families / Barbara Y. Whitman -- A national approach to crisis intervention and advocacy / David A. Wyatt -- Advocacy issues: school discipline and expulsion / Barbara J. Goff -- Advocacy issues: sexuality / Janalee Heinemenn, David A. Wyatt, and Barbara J. Goff.
  • Digital
    Peter S. Choi.
    Digital2011
    Cancers arise through the acquisition of genetic and epigenetic changes which result in the activation of growth-promoting oncogenes and the inactivation of growth-inhibitory tumor suppressor genes. Despite the accumulation of many diverse mutations, some tumors exhibit sensitivity to the targeted inhibition of single gene products, in a phenomenon known as oncogene addiction. In the Emu-tTA/tetO-MYC transgenic mouse model, overexpression of MYC results in the development of aggressive T-cell lymphoma, and subsequent inactivation of MYC results in rapid tumor regression occurring primarily via cell cycle arrest, senescence, and apoptosis. This thesis presents work investigating various aspects of oncogene addiction in MYC-induced lymphomas. We have discovered that tumor recurrence in MYC-induced lymphomas following initial MYC inactivation occurs mainly through the persistence and expansion of cells that fail to suppress MYC expression. This demonstrates that addiction to some oncogenes may be inescapable and that resistance to MYC therapy would likely occur through the restoration of MYC function. We have also discovered that activation of the Wnt/beta-catenin pathway is a common secondary event in MYC-induced lymphomagenesis. Beta-catenin was found to be frequently stabilized due to mutations that prevent its phosphorylation and subsequent degradation, including a novel splice acceptor site mutation. Inhibition of beta-catenin resulted in robust apoptosis, indicating that MYC-induced lymphomas can exhibit addiction to multiple different oncogenes.
  • Digital
    Lynn B. Jorde, John C. Carey, Michael J. Bamshad.
    Digital : ClinicalKey2016
    Background and history -- Basic cell biology : structure and function of genes and chromosomes -- Genetic variation : its origin and detection -- Autosomal dominant and recessive inheritance -- Sex-linked and nontraditional modes of inheritance -- Clinical cytogenetics : the chromosomal basis of human disease -- Biochemical genetics : disorders of metabolism -- Disease-gene identification -- Immunogenetics -- Genetic basis of development -- Cancer genetics -- Multifactorial inheritance and common diseases -- Genetic testing and gene therapy -- Genetics and precision medicine -- Clinical genetics and genetic counseling.
  • Digital
    edited by EM Jones and EM Tansey.
    Digital2016
  • Digital
    Edward S. Tobias and J. Michael Connor.
    Digital : Cambridge2014
    Section one. General principles of medical genetics -- Section two. Common genetic problems in obstetric and gynaecological practice -- Section three. Clinical case scenarios -- Appendix 1. Guide to online sources of genetic information.
  • Digital
    Digital2000-
    Medical Genetics Summaries is a growing collection of summaries which describe the impact that specific sequence variations have on health. The summaries review genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug.
  • Digital
    edited by Rudy Guerra, Darlene R. Goldstein.
    Digital : CRCnetBASE2010
    Pt. 0. Introductory Material -- 1. brief introduction to meta-analysis, genetics, and genomics / Darlene R. Goldstein and Rudy Guerra -- Pt I. Similar Data Types I: Genotype Data -- 2. Combining information across genome-wide linkage scans / Carol J. Etzel and Tracy J. Costello -- 3. Genome search meta-analysis (GSMA): a nonparametric method for meta-analysis of genome-wide linkage studies / Cathryn M. Lewis -- 4. Heterogeneity in meta-analysis of quantitative trait linkage studies / Hans C. van Houwelingen and Jeremie J. P. Lebrec -- 5. empirical Bayesian framework for QTL genome-wide scans / Kui Zhang ... [et al.] -- Pt. II. Similar Data Types II: Gene Expression Data -- 6. Composite hypothesis testing: an approach built on intersection-union tests and Bayesian posterior probabilities / Stephen Erickson, Kyoungmi Kim and David B. Allison -- 7. Frequentist and Bayesian error pooling methods for enhancing statistical power in small sample microarray data analysis / Jae K. Lee, Hyung Jun Cho and Michael O'Connell -- 8. Significance testing for small microarray experiments / Charles Kooperberg ... [et al.] -- 9. Comparison of meta-analysis to combined analysis of a replicated microarray study / Darlene R. Goldstein ... [et al.] -- 10. Alternative probe set definitions for combining microarray data across studies using different versions of Affymetrix oligonucleotide arrays / Jeffrey S. Morris ... [et al.] -- 11. Gene ontology-based meta-analysis of genome-scale experiments / Chad A. Shaw -- Pt. III. Combining Different Data Types -- 12. Combining genomic data in human studies / Debashis Ghosh, Daniel Rhodes and Arul Chinnaiyan -- 13. overview of statistical approaches for expression trait loci mapping / Christina Kendziorski and Meng Chen -- 14. Incorporating GO annotation information in expression trait loci mapping / J. Blair Christian and Rudy Guerra -- 15. misclassification model for inferring transcriptional regulatory networks / Ning Sun and Hongyu Zhao -- 16. Data integration for the study of protein interactions / Fengzhu Sun ... [et al.] -- 17. Gene trees, species trees, and species networks / Luay Nakhleh, Derek Ruths and Hideki Innan.
  • Digital
    Joel Thomas Dudley.
    Digital2011
    One of the grand challenges in genomic medicine is to translate fundamental scientific discoveries regarding the structure, variation, and function of the genomes of individuals and populations towards improved health outcomes. The main hypothesis of this thesis is that all forms of human genetic variation contributing to the etiology and pathophysiology of modern human diseases have distinct and quantifiable evolutionary histories, which can be computed for every position in the human genome independent of human population characteristics, and used as informative quantitative priors in the discovery and assessment of variants of clinical importance in modern human populations. To enable robust evaluation of the specific questions posed by this thesis, I first explore the necessary properties and theoretical basis for a null evolutionary hypothesis for Evolutionary Genomic Medicine, and conclude that the well-established Neutral Theory of Molecular Evolution provides a sound theoretical and methodological basis for evaluating alternative hypothesis in Evolutionary Genomic Medicine. Due to advances in multiplex genotyping technologies, genome-wide associations studies (GWAS), have emerged as the premier modality for discovery and assessment clinical genomic variation. Although these efforts have been successful in revealing thousands variants robustly associated with a broad spectrum of clinical phenotypes, the variants established by the GWAS approach have so far failed to explain large proportions of the known genetic variance associated with important clinical traits such as Type 2 Diabetes and Hypertension. Because disease-associated variation is linked with genomic loci of functional importance which have undergone evolutionary selection, and even the proxy loci (e.g. tagging SNPs) used to probe for disease associated loci themselves have quantifiable evolutionary histories, I evaluate a compendium of disease-associated variants to evaluate the effect of long-term evolutionary histories on the discovery of disease-associated variants. Through this work I demonstrate that disease-associated variants have distinct evolutionary properties, and that evolutionary features of positions can be incorporated as priors to improve discovery of disease-associated variants. A similar approach is applied to evaluate pharmacogenomics variants associated with warfarin, demonstrating that evolutionary features of genomic positions improve clinical assessment of pharmacogenomics variation. Through the findings and insights gained from efforts in pursuit of my thesis which are reported here, my collaborators and I clearly demonstrate that quantitative evolutionary features can be estimated for each position in the human genome across species, and then applied to modern human population data to improve discovery and assessment of genomic variation associated with clinical phenotypes.
  • Digital
    Walker, John M.
    Digital : Springer Protocolsv. 1-142, 1996-2008.
  • Digital
    Natalia Aptsiauri, Angel Miguel Garcia-Lora, Teresa Cabrera.
    Digital : Springer2013
    Overview of MHC Class I Antigens -- HLA Class I Expression in Human Cancer -- MHC Class I Expression in Experimental Mouse Models of Cancer: Immunotherapy of Tumors with Different MHC-I Expression Patterns -- Potential Therapeutic Approaches for Increasing Tumor Immunogenicity by Upregulation of Tumor HLA Class I Expression -- Conclusions.
  • Digital
    edited by Ulf Schmitz, Olaf Wolkenhauer, Julio Vera.
    Digital : Springer2013
    Print2013
    "This book reflects the current state of knowledge about the role of microRNAs in the formation and progression of solid tumours. The main focus lies on computational methods and their applications in combination with cutting edge experimental techniques that are used to approach all aspects of microRNA regulation in cancer. The use of high-throughput quantitative techniques makes an integrative experimental and computational approach necessary. This book will be a resource for researchers starting out with microRNA research, but is also intended for the experienced researcher who wants to incorporate concepts and tools from systems biology and bioinformatics into his work. Bioinformaticians and modellers are provided with a general perspective on microRNA biology, and the state-of-the-art in computational microRNA biology." --Publisher's description.
  • Digital
    Suresh Alahari, editor.
    Digital : Springer2013
    The field of microRNA biology is really emerging in the last couple of years. Several investigators highlighted the importance of miRNAs in cancer. Although there is so much literature on microRNAs exist, a comprehensive book is still not available. Thus this book will be a great use to the scientists in the field of cancer biology. In addition, this book will be a good source of information for undergraduate, graduate students who want to develop their research careers in cancer biology.
  • Digital
    edited by Yuriy Gusev.
    Digital : CRCnetBASE2010
    Measurement and interpretation of microRNA expression profiles / Bo Curry and Robert Ach -- MicroRNA expression analysis by LNA enhanced microarrays / Rolf Sokilde ... [et al.] -- Analysis and QC for real-time OPCR arrays of human microRNAs / Dirk P. Ditmer ... [et al.] -- Massively parallel microRNA profiling in the haematologic malignancies / Ryan D. Morin ... [et al.] -- Who dunit? microRNAs involved in prostate cancer / Chang Hee Kim -- Intronic microRNA : creation, evolution and regulation / Sailen Barik and Titus Barik -- miRome architechture and genomic instability / Konrad Huppi ... [et al.] -- Interconnection of microRNA and transcription factor-mediated regulatory networks / Yiming Zhou -- Analysis of microRNA profiling data with systems biology tools / Yuriy Gusev ... [et al.] -- Mathematical and computational modeling of post-transriptional gene regulation by microRNAs / Raya Khanin and Desmond J. Higham.
  • Digital
    edited by Carlo M. Croce, Paul B. Fisher.
    Digital : ScienceDirect2017
    Chapter One. MicroRNAs and cancer: a long story for short RNAs -- Chapter Two. The enigma of miRNA regulation in cancer -- Chapter Three. Animal models to study microRNA function -- Chapter Four. Cancer hallmarks and microRNAs: the therapeutic connection -- Chapter Five. microRNAs in cancer susceptibility -- Chapter Six. Role of the tRNA-derived small RNAs in cancer: new potential biomarkers and target to therapy -- Chapter Seven. MicroRNAs and epigenetics.
  • Digital
    Lee-Jun C. Wong, editor.
    Digital : Springer2013
    Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorders usually affects multiple organs. Mitochondrial Disorders Caused by Nuclear Genes discusses the biochemical, molecular, clinical, and genetic aspects of complex dual genome mitochondrial disorders. Chapters include genes involved in mitochondrial DNA biogenesis and maintenance of mitochondrial DNA integrity, complex subunits and assembly genes, and mitochondrial protein translation related diseases.
  • Digital
    Peter Hu, Madhuri Hegde, Patrick Alan Lennon, editors.
    Digital : Springer2012
    Part 1. Current Molecular Laboratory Methods -- Specimen Collection, Handling, and Processing / Lindsy Hengesbach and John A. Gerlach -- DNA/RNA Isolation and Quantitation / Jing Wang -- Test Validation / Cindy McCloskey and S. Terence Dunn -- In Vitro Amplification Methods in Molecular Diagnostics / C. Alexander Valencia and Bradford Coffee -- Whole Genome Sequencing in the Clinical Laboratory / Tina Hambuch, Brad Sickler, Arnold Liao, Suneer Jain and Philip D. Cotter -- Estimation of Exon Dosage Using Real-Time Quantitative Polymerase Chain Reaction / Applications to Factor VIII Gene in Hemophilia A and Endoglin/ACVRL1 Genes in Hereditary Hemorrhagic Telangiectasia / Juliana Purrazzella and Arupa Ganguly -- Reporting Clinical Molecular Genetic Laboratory Results / Victor Wei Zhang and Lora J. H. Bean -- Part 2. Clinical Molecular Infectious Disease Testing -- HIV-1 Genotyping and Virtual Phenotyping / Fangling Xu and Jianli Dong -- COBAS® AmpliPrep/COBAS® TaqMan® HIV-1 Test, Version 2.0 / Tavat A. Buraruk and Charles E. Stager -- Hepatitis C Virus (HCV) Genotype Assay (LiPA) / Charles E. Stager and Tavat A. Buraruk -- COBAS® AmpliPrep/COBAS® TaqMan® HCV Test / Charles E. Stager and Tavat A. Buraruk -- Epstein-Barr Virus and Cytomegalovirus Viral Load Monitoring by Quantitative Real-Time Polymerase Chain Reaction / Su S. Chen, Seema Hai, Margaret L. Gulley and Rajyalakshmi Luthra -- Quantification of BK Viral Load / Hai Wu and Jianli Dong -- Molecular Diagnosis and Epidemiology of Rabies / Rodney E. Rohde and Bonny C. Mayes -- Pyrosequencing for Bacterial Identification / Laura Millecker and Ruth Ann Luna -- Other Pathogens of Significant Public Health Concern / Chris L. McGowin, Rodney E. Rohde and Greg C. Whitlock -- Part 3. Clinical Molecular Oncology Testing -- Gene Rearrangements Testing / Siby Sebastian, Juan Du and Rizwan Naeem -- Mutation Analysis in Cancer / Keyur Pravinchandra Patel, John Galbincea and Rajyalakshmi Luthra -- Minimal Residual Disease / Wesley O. Greaves and Rajyalakshmi Luthra -- Pyrosequencing in Cancer / Shalini Verma, Bedia A. Barkoh and Rajyalakshmi Luthra -- Clinical Applications of Microarrays in Cancer / Marilyn M. Li, Ankita Patel and Xiaofeng Hu -- Basic Theories and Clinical Applications of Molecular Flow Cytometry / Hua-Kang Wu, Hongli Chen and Peter C. Hu -- Part 4. Clinical Molecular Pre/Postnatal Testing -- Molecular Prenatal Diagnostic Testing / Joanna Wiszniewska and Christine M. Eng -- PCR Based Diagnosis of Fragile X Syndrome / Daniel J. Dykas and Allen E. Bale -- Part 5. Human Identity Testing -- Microsatellite Testing Short Tandem Repeat Profile Generation / Robin DeVille Guidry and Laura Gahn -- Parentage / Laura Gahn and Robin DeVille Guidry -- Part 6. Clinical Molecular Training -- Diagnostic Molecular Training / Peter C. Hu, Patrick Alan Lennon and Madhuri R. Hegde -- Molecular Diagnostics Point of Care Testing Training / Chang W. Lee and Peter C. Hu.
  • Digital
    [edited by] Wayne W. Grody ... [et al.].
    Digital : ScienceDirect2010
    Advances in genomic and proteomic profiling of disease have transformed the field of molecular diagnostics, thus leading the way for a major revolution in clinical practice. While the range of tests for disease detection and staging is rapidly expanding, many physicians lack the knowledge required to determine which tests to order and how to interpret results. This handbook provides a complete guide to the use and interpretation of molecular testing in the clinical arena. No other available resource offers this emphasis, comprehensive scope, and practical utility in the clinical setting.
  • Digital
    Liang Cheng, David Y. Zhang, John N. Eble, editors.
    Digital : Springer2013
    Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
  • Digital
    edited by Liang Cheng, David Y. Zhang.
    Digital : Springer2008
  • Digital
    Lora Hedrick Ellenson, editor.
    Digital : Springer2017
    Print2017
    "This comprehensive text provides a much-needed review of a disease that is currently garnering the interest of molecular biologists, translational scientists, and clinicians. The volume includes emerging developments in the molecular genetics of endometrial carcinoma. In addition to covering the basic genetics of endometrial carcinoma, chapters also cover a wide range of signaling pathways implicated in endometrial carcinoma. A section of the book includes a number of genetically engineered mouse models, which contribute to understanding the role of various genetic alterations in the development and progression of endometrial carcinoma. These models also provide preclinical models for developing effective targeted therapeutic approaches. Endometrial carcinoma is the most common malignancy of the female genital tract in the United States and the number of cases continues to increase around the world. This book is a meant to serve as a resource for a wide range of scientists, from molecular geneticists to signal transduction biologists, as well as to both clinicians and scientists interested in developing targeted therapeutic approaches for women with endometrial carcinoma"--Publisher's description.
  • Digital
    Diane M. Simeone, Anirban Maitra, editors.
    Digital : Springer2013
    Genomic Alterations in Sporadic Pancreatic Cancer / Marco Dal Molin, Anirban Maitra -- Molecular Pathology of Pancreatic Cancer Precursor Lesions / Lodewijk A. A. Brosens, G. Johan Offerhaus -- Genetic Epidemiology and Pancreatic Cancer / Li Jiao, Donghui Li -- Translational Implications of Molecular Genetics for Early Diagnosis of Pancreatic Cancer / Michael A. Hollingsworth -- The Biology of K-Ras Signaling Pathways in Pancreatic Cancer / Helen Court, Mark R. Philips, Dafna Bar-Sagi -- Molecular Targeted Therapies in Pancreatic Cancer / Edward Kim, Ethan V. Abel, Arunima Ghosh -- Mouse Models of Pancreatic Ductal Adenocarcinoma / Filip Bednar, Marina Pasca di Magliano -- The Genetics of Pancreatic Cancer Progression / Christine A. Iacobuzio-Donahue, -- Epigenetic Alterations in Pancreatic Cancer / Michael Ayars, Michael Goggins -- Innovative Technologies in the Molecular Characterization of Pancreatic Cancer / Iris H. Wei, Chandan Kumar-Sinha.
  • Digital
    Ronald J. Trent.
    Digital : ScienceDirect2012
    Digital : ClinicalKey2012
    Molecular Medicine is the application of genetic or DNA-based knowledge to the modern practice of medicine. Molecular Medicine, 4e, provides contemporary insights into how the genetic revolution is influencing medical thinking and practice. The new edition includes recent changes in personalized medicine, new growth in omics and direct-to-consumer DNA testing, while focusing on advances in the Human Genome project and implications of the advances in clinical medicine. Graduate students, researchers, clinicians and allied health professionals will appreciate the background history and clinical application of up-to-date molecular advances. Extensively revised to incorporate the results of the Human Genome Project, it provides the latest developments in molecular medicineThe only book in Molecular Medicine to reach its fourth edition Identifies current practice as well as future developmentsPresents extensive tables, well presented figures and resources for further understanding.
  • Digital
    edited by Todd D. Gould.
    Digital : Springer Protocolsv.1 (2009)
    Digital : Springer Protocolsv.2 (2011)
  • Digital
    Cord Brakebusch, Taina Pihlajaniemi, Editors.
    Digital : Springer2011
    Genomic insulators in transgenic animals -- German mouse clinic: running an open access platform -- Nature and nurture: impacts on mouse phenotypes and translational research -- Informatics of high-throughput mouse phenotyping: EUMODIC and beyond -- Experimental tumour models in mice -- Exploration of MMP function in mouse models of angiogenesis -- Tumor-stroma interactions: focus on fibroblasts -- Experimental procedures to assay invasion-associated activities of primary cultured fibroblasts -- Systemic instigation: a mouse model to study breast cancer as a systemic disease.
  • Digital
    Linda Yang Liu.
    Digital2012
    There are clear physiological differences between men and women, including dimorphism in disease susceptibility and treatment response. These disparities often stem from biological differences between the sexes. Sex matters at every level of biology, including genes, proteins, pathways and tissues. Sex chromosomes are fundamental determinants of genetic makeup; sex hormones regulate the expression of thousands of genes; immune response pathways differ between the sexes; and clinical variables like heart rate and pain intensity are also divergent. With current technological advances in high-throughput measurement modalities, we can simultaneously probe every gene in the genome or record millions of clinical features in databases for research. However, investigators using large-scale data sources often ignore the question of sex differences. Many experimental studies use only male animals, and clinical trials often exclude one sex in an attempt to reduce variability in their results. This has led to many pharmaceuticals failing to receive approval by the Food and Drug Administration due to toxicity or lack of efficacy in the untested sex. Rather than completely ignoring sex or viewing it only as a variable to control for, we should make sex differences research a priority of every study. In particular, we should incorporate sex analysis into large-scale genomics, proteomics and clinical analyses. In addition, integrating different types of data will enable more powerful mechanistic studies. Investigating sex differences can lead to new insights about how disease operates differently in men and women. These insights will in turn lead us closer to the goal of personalized medicine for both men and women. In this thesis, I describe methods to address informatics challenges in performing sex-differentiated analysis of high-throughput datasets. In particular, I show that I have (1) developed a novel statistical method to systematically analyze genome-wide association study data for sex differences, (2) applied the method to discover and validate a novel sex difference in a top Crohn's disease risk gene, (3) developed methods to mine large electronic medical record databases to discover sex differences in clinical pain measures, and (4) modeled sex-specific gene-gene interactions to discover molecular sex differences in Alzheimer's disease. This dissertation contains a set of methods for (1) genomics and other data-driven researchers to discover sex differences in molecular and clinical measurements and (2) sex differences researchers to integrate large-scale data sources. Many of the methods I have developed are generalizable to any situation in disease or genomics research with a binary variable of interest.
  • Digital
    edited by Dongsheng Duan.
    Digital : Springer2010
  • Digital
    R.N. Eisenmann (ed.).
    Digital : Springer2006
    Print2006
    Making Myc / J. Liu and D. Levens -- Transcriptional activation by the Myc oncoprotein / M. D. Cole and M. A. Nikiforov -- Mechanisms of transcriptional repression by Myc / D. Kleine-Kohlbrecher, S. Adhikary and M. Eilers -- The mad side of the Max network : antogonizing the function of Myc and more / S. Rottmann and B. Luscher -- Structural aspects of interactions with the Myc/Max/Mad network / S. K. Nair and S. K. Burley -- Myc target transcriptomes / L. A. Lee and C. V. Dang -- c-Myc, genome instability, and tumorigenesis : the devil is in the details / M. Wade and G. M. Wahl -- Lessons learned from Myc/Max/Mad knockout mice / M. Pirity, J. K. Blanck and N. Schreiber-Agus -- Myc/Max/Mad in invertebrates : the evolution of the Max network / P. Gallant -- The mix network : evidence for a parallel Max-like transcriptional network that regulates energy metabolism / A. N. Billin and D. E. Ayer.
  • Digital
    volume editor, Dieter Kaufmann.
    Digital : Karger2008
    The neurofibromatoses: classification, clinical features, and genetic counselling / S.M. Huson -- Treatment and management of neurofibromatosis 1 / V.F. Mautner, E. Boltshauser -- Neurofibromatosis type 1 and other syndromes of the Ras pathway / D.A. Stevenson, J.J. Swensen, D.H. Viskochil -- NF1 gene structure and NF1 genotype/phenotype correlations / M. Upadhyaya -- NF1 mutational spectrum / L.M. Messiaen, K. Wimmer -- Clinical phenotypes in patients with NF1 microdeletions / S. Tinschert -- Structure of the NF1 gene region and mechanisms underlying gross NF1 deletions / H. Kehrer-Sawatzki -- NF1 gene evolution in mammals / G. Assum, C. Schmegner -- Structure and function of neurofibromin / S. Welti, I. D'Angelo, K. Scheffzek -- Composition of neurofibromas, NF1 expression, and comparison of normal and NF1 haploinsufficient cells / J. Peltonen, S. Peltonen -- Somatic NF1 mutations in tumors and other tissues / T. De Raedt ... [et al.] -- NF2: mutations and management of disease / D.G.R. Evans, A. Wallace -- Function of merlin in genesis of tumours and other symptoms of NF2 / C.O. Hanemann -- Molecular studies on schwannomatosis / L. Kluwe.
  • Digital
    edited by Nicholas W. Wood.
    Digital : Cambridge2012
    1. The human genome project -- what it really means and where next? / Sonia Gandhi and Nicholas Wood -- 2. Genetic counselling and genetic testing for neurogenetic disorders / David Craufurd and Peter S. Harper -- 3. Alzheimer's disease and related dementias / John Hardy -- 4. The epilepsies / Mark Gardiner -- 5. The ataxias / S.H. Subramony -- 6. Huntington's disease / Sarah J. Tabrizi and Edward J. Wild -- 7. Parkinsonism / Vincenzo Bonifati -- 8. Prion diseases / Simon Mead and John Collinge -- 9. Channelopathies / Michael G. Hanna and Dimitri M. Kullmann -- 10. Amyotrophic lateral sclerosis and other disorders of the lower motor neuron / Christopher E. Shaw ... [et sl.] -- 11. The muscular dystrophies / Kate Bushby and Una Sheerin -- 12. Charcot-Marie-Tooth diseases / Odile Dubourg, Alexis Brice, and Eric LeGuern -- 13. Mitochondrial disorders / Robert McFarland [and others] -- 14. The neurofibromatoses and related disorders / Rosalie E. Ferner -- 15. The future of neurogenetics / Thomas D. Bird.
  • Digital
    edited by David R. Lynch ; associate editor Jennifer M. Farmer.
    Digital : CRCnetBASE2006
  • Print
    Andrew Read and Dian Donnai.
    Print2011
    Status: Not Checked OutLane Catalog Record
    Chapter 1. What can we learn from a family history? -- Chapter 2. How can a patient's chromosomes be studied? -- Chapter 3. How do genes work? -- Chapter 4. How can a patient's DNA be studied? -- Chapter 5. How can we check a patient's DNA for gene mutations? -- Chapter 6. What do mutations do? -- Chapter 7. What is epigenetics? -- Chapter 8. How do our genes affect our metabolism, drug responses and immune system? -- Chapter 9. How do researchers identify genes for Mendelian diseases? -- Chapter 10. Why are some conditions common and others rare? -- Chapter 11. When is screening useful? -- Chapter 12. Is cancer genetic? -- Chapter 13. Should we be testing for genetic susceptibility to common diseases? -- Chapter 14. What services are available for families with genetic disorders?
  • Digital
    C. Alexander Valencia, M. Ali Pervaiz, Ammar Husami, Yaping Qian, Kejian Zhang.
    Digital : Springer2013
    This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.
  • Digital
    Ondrej Slaby, George A. Calin, editors.
    Digital : Springer2016
    Print2016
    Introduction.-Part I Non-coding RNAs: biology and implications in colorectal cancer pathogenesis.-Non-coding RNAs: classification, biology and functioning.-Involvement of non-coding RNAs in hallmarks and key signaling pathways of colorectal cancer.-MicroRNAs and inflammation in colorectal cancer -- Interplay between transcription factors and microRNAs regulating epithelial-mesenchymal transitions in colorectal cancer -- Non-coding RNAs functioning in colorectal cancer stem cells -- MicroRNA Methylation in Colorectal Cancer -- Polymorphisms in non-coding RNA genes and their targets sites as risk factors of sporadic colorectal cancer -- Part II Non-coding RNAs: new class of biomarkers in colorectal cancer -- Non-coding RNAs as biomarkers for colorectal cancer screening and early detection -- Circulating non-coding RNAs as biomarkers in colorectal cancer -- Non-coding RNAs enabling prognostic stratification and prediction of therapeutic response in colorectal cancer patients -- Part III Non-coding RNAs: therapeutic targets and colorectal cancer therapeutics -- Involvement of non-coding RNAs in chemo- and radioresistance of colorectal cancer -- Non-coding RNAs: therapeutic strategies and delivery systems -- MicroRNAs as therapeutic targets and colorectal cancer therapeutics -- Summary -- Index.
  • Digital
    K. Taira, K. Kataoka, T. Niidome, eds.
    Digital : Springer2005
    Print2005
  • Digital
    volume editor, Martin Zenker.
    Digital : Karger2009
    History of Noonan syndrome and related disorders / J.A. Noonan -- The clinical phenotype of Noonan syndrome / J.E. Allanson -- Molecular genetics of Noonan syndrome / M. Tartaglia, B.D. Gelb -- Genotype-phenotype correlations in Noonan syndrome / A. Sarkozy ... [et al.] -- LEOPARD syndrome : clinical aspects and molecular pathogenesis / A. Sarkozy ... [et al.] -- The clinical phenotype of cardiofaciocutaneous syndrome (CFC) / A.E. Roberts -- Molecular causes of the cardio-facio-cutaneous syndrome / W.E. Tidyman, K.A. Rauen -- The clinical phenotype of Costello syndrome / B. Kerr -- The molecular basis of Costello syndrome / K. Sol-Church, K.W. Gripp -- Endocrine regulation of growth and short stature in Noonan syndrome / G. Binder -- The heart in ras-MAPK pathway disorders / M.C. Digilio ... [et al.] -- Myeloproliferative disease and cancer in persons with Noonan syndrome and related disorders / C. Kratz -- Neurofibromatosis type 1-Noonan syndrome : what's the link? / E. Denayer, E. Legius -- Animal models for Noonan syndrome and related disorders / T. Araki, B.G. Neel -- Towards a treatment for ras-MAPK pathway disorders / V.A. Joshi, A.E. Roberts, R. Kucherlapati.
  • Digital
    Mark O.J. Olson [editor].
    Digital : Springer2011
  • Digital
    volume editors, E. Shyong Tai, Peter J. Gillies.
    Digital : Karger2007
    Nutrition in the 'omics' era / J.A. Milner -- Nutrigenetics / A. El-Sohemy -- Epigenomics and nutrition / L. Cobiac -- Early nutrition: impact on epigenetics / J.C. Mathers -- Nutrition and genome health / M. Fenech -- Nutrition: ethics and social implications / I.H. Slamet-Loedin, U.A. Jenie -- Proteomics / V. Thongboonkerd -- Diet and genomic stability / G.P. Young -- High-throughput genotyping / J.E. Lee -- Nutrient-gene interactions in lipoprotein metabolism - overview / J.M. Ordovas, D. Corella, J. Kaput -- The genetics of lipoprotein metabolism and heart disease / E.S. Tai -- Gene-environment interactions and the diabetes epidemic in India / V. Mohan ... [et al.] -- Gene expression in low glycemic index diet - impact on metabolic control / E. Takeda ... [et al.] -- Genetic polymorphisms in folate-metabolizing enzymes and risk of gastroesophageal cancers: a potential nutrient-gene interaction in cancer development / D. Lin ... [et al.] -- Dietary quercetin inhibits proliferation of lung carcinoma cells / H. Hung -- Osteoporosis: the role of genetics and the environment / B. Ongphiphadhanakul -- Application of nutrigenomics in eye health / C. Delcourt -- Nutrigenomics of taste - impact on food preferences and food production / A. El-Sohemy ... [et al.] -- Prospects for improving the nutritional quality of dairy and meat products / S.G. Coffey -- Functionality of probiotics - potential for product development / J. Dekker ... [et al.] -- Developing the promise of nutrigenomics through complete science and international collaborations / J. Kaput -- ILSI's first international conference on nutrigenomics: oppotunities in Asia / R.F. Florentino.
  • Digital
    [editor-in-chief] David Valle ; [editors] Arthur L. Beaudet, Bert Vogelstein, Kenneth W. Kinzler, Stylianos E. Antonarakis, Andrea Ballabio, K. Michael Gibson, Grant Mitchell.
    Database<2005>
  • Digital
    [editor-in-chief] David Valle ; [editors] Arthur L. Beaudet, Bert Vogelstein, Kenneth W. Kinzler, Stylianos E. Antonarakis, Andrea Ballabio, K. Michael Gibson, Grant Mitchell.
    Database<2005>
  • Print
    Philip R. Reilly, MD, JD.
    Print2015
    Status: Not Checked OutLane Catalog Record
    "This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand rare genetic disorders. It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases. In many cases just a few physician-scientists have made an immense contribution to blazing a path toward new therapies"-- Provided by publisher.
  • Digital
    Blake Byers.
    Digital2012
    Studies of Parkinson's disease (PD) have been greatly hindered by lack of access to affected human dopaminergic (DA) neurons. Here, we report generation of induced pluripotent stem cells that carry the p.G2019S mutation (LRRK2-G2019S-iPSCs) in the Leucine-Rich Repeat Kinase-2 (LRRK2) gene, the most common PD-related mutation; pluripotent lines that cells that carry a full SNCA gene triplication on one allele; and control pluripotent lines. We demonstrate that these PD autosomal dominant mutant LRRK2-G2019S-iPSCs, SNCA-triplication-iPSCs and Control-iPSCs were able to differentiate into dopaminergic neurons and showed increased expression of key oxidative stress response genes and alpha-synuclein protein. Moreover, LRRK2-G2019S iPSC derived dopaminergic neurons, specifically, were more sensitive to caspase-3 activation caused by exposure to hydrogen peroxide, MG-132, and 6-hydroxydopamine, compared to control dopaminergic neurons. While, SNCA-triplication iPSC derived dopaminergic neurons formed early ubiquitin positive puncta and were more sensitive to peak toxicity hydrogen peroxide induced cell stress. These findings suggest that LRRK2-G2019S and SNCA-triplication iPSC derived dopaminergic neurons exhibit early phenotypes linked to PD. Due to the high penetrance of the LRRK2 mutation, the expression of wild type protein in the SNCA-triplication line, and the clinical resemblance of patients afflicted with these disorders to sporadic PD patients, these neurons may provide a valuable platform for identification of novel pharmacological agents and diagnostics for modeling and alleviation of a subset of disease phenotypes.
  • Digital
    [edited by] Douglas T. Carrell.
    Digital : Cambridge2013
    1. The reproductive fitness of the human male gamete / Douglas T. Carrell -- 2. The sperm genome: effect of aneuploidies, structural variations, single nucleotide changes and DNA damage on embryogenesis and development / Kenneth I. Aston and Donald F. Conrad -- 3. The sperm epigenome: a role in embryogenesis and fetal health? / Douglas T. Carrell and Jessie Dorais -- 4. Imprinted gene anomalies in sperm / C. Joana Marques and Mário Sousa -- 5. Has the renewed interest in sperm RNA led to fresh insights? A critical review and hypothesis / David Miller and David Iles -- 6. The role of the sperm centrosome in reproductive fitness / Heide Schatten and Qing-Yuan Sun -- 7. The male biological clock / Harry Fisch -- 8. The role of aging on fecundity in the male / Csilla Krausz and Chiara Chianese -- 9. Aging, DNA damage, and reproductive outcome / Aleksander Giwercman and Jens Peter Bonde -- 10. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer / Simon L. Conti and Michael L. Eisenberg -- 11. Sexual function in the aging male / John R. Gannon, Jeremy B. Myers and William O. Brant -- 12. Supplements and replacement therapies for the aging male and their effects on reproductive fitness / Armand Zini and Naif Al-hathal -- 13. Environment and lifestyle effects on fertility / Marc A. Beal and Christopher M. Somers; 14. Obesity and male infertility: is there an effect on embryogenesis? Oumar Kuzbari and Ahmad O. Hammoud; Part III. Clinical Laboratory Concepts and Considerations: 15. ICSI: does the sperm matter? Gianpiero D. Palermo, Queenie V. Neri and Zev Rosenwaks -- 16. Sperm selection and ART outcome: a means to overcome the effects of aging and abnormal spermatogenesis? / Denny Sakkas -- 17. Variability of human semen quality: caution in interpreting semen analysis data / Kenneth I. Aston -- 18. Semen characteristics and aging: technical considerations regarding variability / Lars Björndahl.
  • Digital
    Alan H.B. Wu, Kiang-Teck J. Yeo, editors.
    Digital : Springer2011
  • Digital
    edited by Federico Innocenti, Ron H.N. van Schaik.
    Digital : Springer Protocols2013
    Pharmacogenomics : historical perspective and current status / Rosane Charlab and Lei Zhang -- Denaturing high-performance liquid chromatography for mutation detection and genotyping / Donna Lee Fackenthal [and others] -- Clinical SNP detection by the smartAmp method / Toshihisa Ishikawa and Yoshihide Hayashizaki -- MALDI-TOF mass spectrometry / Dirk van den Boom, Matthias Wjst, and Robin E. Everts -- TaqMan® drug metabolism genotyping assays for the detection of human polymorphisms involved in drug metabolism / Toinette Hartshorne -- Pyrosequencing of clinically relevant polymorphisms / Cristi R. King and Sharon Marsh -- Pharmacogenetics using Luminex® xMAP® technology : a method for developing a custom multiplex single nucleotide polymorphism mutation assay / Gonnie Spierings and Sherry A. Dunbar -- Use of linkage analysis, genome-eide association studies, and next-generation sequencing in the identification of disease-causing mutations / Eric Londin [and others] -- GoldenGate genotyping assay : custom design, processing, and data analysis / Anna González-Neira -- Genome-wide gene expression profiling, genotyping, and copy number analyses of acute myeloid leukemia using affymetrix geneChips. / Mathijs A. Sanders and Peter J.M. Valk -- Epigenetic techniques in pharmacogenetics / Sandra G. Heil -- Plasmid derived external quality controls for genetic testing / Tahar van der Straaten and Henk-Jan Guchelaar -- Allelic imbalance assays to quantify allele-specific gene expression and transcription factor binding / Francesca Luca and Anna Di Rienzo -- SCAN : a systems biology approach to pharmacogenomic discovery / Eric R. Gamazon, R. Stephanie Huang, and Nancy J. Cox -- Methods to examine the impact of nonsynonymous SNPs on protein degradation and function of human ABC transporter / Toshihisa Ishikawa, Kanako Wakabayashi-Nakao, and Hiroshi Nakagawa -- In vitro identification of cytochrome P450 enzymes responsible for drug metabolism / Zhengyin Yan and Gary W. Caldwell -- In vitro and in vivo mouse models for pharmacogenetic studies / Amber Frick [and others] -- Hydrodynamic tail vein assay as a tool for the study of liver promoters and enhancers / Mee J. Kim and Nadav Ahituv -- Guide to the current web-based resources in pharmacogenomics / Dylan M. Glubb [and others] -- PharmGKB : the pharmacogenomics knowledge base / Caroline F. Thorn, Teri E. Klein, and Russ B. Altman -- Genetic databases in pharmacogenomics : the frequency of inherited disorders database (FINDbase) / Marianthi Georgitsi and George P. Patrinos -- Development of predictive models for estimating warfarin maintenance dose based on genetic and clinical factors / Lu Yang and Mark W. Linder -- Evidence based drug dosing and pharmacotherapeutic recommendations per genotype / Vera H.M. Deneer and Ron H.N. van Schaik.
  • Digital
    Shirley V. Hodgson, William D. Foulkes, Charis Eng and Eamonn R. Maher.
    Digital : Springer2014
    A Practical Guide to Human Cancer Genetics, 4th edition, is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. This fully updated new edition covers risk analysis and genetic counseling for individuals with a family history of cancer, and includes a discussion of predictive testing and the organisation of the cancer genetics service. There is also information about the genes causing Mendelian cancer predisposing conditions and their mechanisms of action. This book is an invaluable reference source for students, general practitioners, geneticists and specialist clinicians in all disciplines.
  • Digital
    [edited by] Thomas T. Warner, Simon R. Hammans.
    Digital : ClinicalKey2009
    This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
  • Digital
    editors, Jeanette McCarthy, Bryce Mendelsohn.
    Digital : AccessMedicine2017
    Preconception carrier screening -- Pregnancy -- The newborn -- Emergency medicine, metabolic disease -- Childhood and adolescence -- Pharmacogenomics -- Heart disease -- Cancer predisposition testing -- Cancer : genomic-guided treatment decisions -- The brain -- Wellness -- Appendices.
  • Digital
    Joann Paley Galst, Marion S. Verp, editors.
    Digital : Springer2015
    1. Prenatal genetic screening and diagnostic testing -- 2. Preimplantation genetic screening and diagnostic testing -- 3. Medical reasons for pregnancy interruption: chromosomal and genetic abnormlaities -- 5. Medical reasons for pregnancy interruption: fetal reduction -- 6. Fetal pain -- 7. Giving bad and ambiguous news -- 9. Ethical issues -- 10. Religious traditions -- 11. Disability perspectives -- 12. Feminist perspectives on prenatal and preimplantation diagnosis -- 13. Critical aspects of decision-making and grieving after diagnosis of fetal anomaly -- 14. Helping patients cope with their decisions -- 15. A burden of choice: the ripple effect: parent's grief and the role of family and friends -- 16. Postscript: a patient's perspective -- Index.
  • Digital
    Peter Gluckman, Alan Beedle, Tatjana Buklijas, Felicia Low, Mark Hanson.
    Digital : OSO2016
  • Digital
    edited by Marschall S. Runge, Cam Patterson ; foreword by Victor A. McKusick.
    Digital : Springer2006
    Print2006
  • Digital
    edited by John I. Nurnberger Jr., Wade H. Berrettini.
    Digital : Cambridge2012
    Contribution of genetic epidemiology to our understanding of psychiatric disorders / Kathleen Ries Merikangas, Anibal Cravchik -- A basic overview of contemporary human genetic analysis strategies / Ondrej Libiger, Nicholas J. Schork -- DNA methods / David W. Craig -- In silico analysis strategies and resources for psychiatric genetics research / Ali Torkamani, Trygve Bakken, Nicholas J. Schork -- Gene expression studies in psychiatric disorders / Alexander B. Niculescu, III -- Pharmacogenetics in psychiatry / Falk W. Lohoff -- Functional validation of candidate genetic susceptibility factors for major mental illnesses / Akira Sawa [and others] -- Epigenetic mechanisms in drug addiction and depression / William Renthal, Eric J. Nestler -- Panic disorder / Ardesheer Talati, Myrna M. Weissman -- The genetics of phobic disorders and generalized anxiety disorder / Raymond R. Crowe -- Genetic contributions to obsessive-compulsive disorder (OCD) and OCD-related disorders / Dennis L. Murphy [and others] -- Post-traumatic stress disorder / Michael J. Lyons, Tyler Zink, Karestan C. Koenen -- Antisocial behavior : gene-environment interplay / Laura A. Baker [and others] -- Learning disabilities / Shelley D. Smith -- Attention-deficit hyperactivity disorder / Josephine Elia [and others] -- Autism and autism spectrum disorders / Daniel H. Geschwind, Maricela Alarcon -- The genetics of bipolar disorder / John R. Kelsoe -- The genetics of major depression / James B. Potash -- The genetics of schizophrenia / Hugh M.D. Gurling, Andrew McQuillin -- The genetics of anorexia and bulimia nervosa / Andrew W. Bergen, Jennifer Wessel, Walter H. Kaye -- Genetics and common human obesity / R. Arlen Price -- Alcoholism / Howard J. Edenberg -- Nicotine dependence / Sarah M. Hartz, Laura J. Bierut -- Human molecular genetics of opioid addiction / Mary Jeanne Kreek [and others] -- Genetics of stimulant dependence / Joseph F. Cubells, Yi-Lang Tang -- Genetics of personality disorders / C. Robert Cloninger -- Ethical issues in behavioral genetics / Stephen H. Dinwiddie, Jinger Hoop, Elliot Gershon -- Genetics of Tourette syndrome and related disorders / Maria G. Motlagh, Thomas V. Fernandez, James F. Leckman -- Endophenotypes in psychiatric genetics / Andrew C. Chen, Madhavi Rangaswamy, Bernice Porjesz -- Developmental disorders / Craig A. Erickson, Khendra I. Peay, Christopher J. McDougle -- Alzheimer's disease / Carlos Cruchaga, John S.K. Kauwe, Alison M. Goate.
  • Digital
    edited by Philip Gorwood, Michel Hamon.
    Digital : Springer2006
  • Digital
    U. Kristoffersson, J. Schmidtke, J.-J. Cassiman, editors.
    Digital : Springer2010
    Improving quality and harmonization of standards in clinical genetic services in Europe: the EuroGentest Network of Excellence -- The CanGeneTest Pan-Canadian Research Consortium on genetic laboratory services -- Regulating genetic testing: the relevance of appropriate definitions -- Genetic diseases as rare diseases: a European policy view -- European regulatory issues related to quality in provision of genetic service -- The European IVD directive and genetic testing -- Quality issues in genetics services in the United Kingdom -- The primary care perspective of quality in clinical genetics service, United Kingdom as an example -- Regulation of genetic testing/service in Canada -- Quality issues in clinical genetic services in Australia -- Clinical genetic teesting and services, the US perspective -- US oversight and regulation of genetic testing -- Regulatory issues in clinical and laboratory genetics in developing countries: examples from Latin America -- Assuring quality when establishing medical genetic services in middle- and low-income nations -- Clinical validity and utility of genetic testing in heritable disorders -- Clinical validity and utility of genetic testing in common multifactorial diseases -- The quality of genetic screening: an integral approach -- The use of prinicples in allocating scarce health care resources for genetic tests -- Outcome measures in clinical genetics services -- Direct to consumer testing -- Competency based core curriculum for training specialists in clinical genetics -- Ensuring education and quality in the practice of health professionals (non-medical) working in genetic services -- Quality issues in clinical genetic services: ethical aspects -- Democratic expert influence through bioethical advisory committees? The case of PGD legislation in Sweden -- Quality issues in clinical genetic services; regulatory issues and international conventions -- IPR issues and high quality genetic testing -- Quality issues in the evaluation and regulation of genetic testing services: a public health approach -- Quality management systems and accreditation -- External quality assessment in molecular genetic testing -- Quality issues in molecular genetic testing -- Quality issues in molecular genetic testing -- Quality in cytogenetics -- Fluorescence in situ hybridization (FISH), quality issues in molecular cytogenetics -- Quality issues in biochemical genetic testing -- Emerging technologies, need for quality assessment -- Genetic counselling in rare diseases -- Genetic counselling for late-onset disorders -- Genetic counselling for common diseases, cancer susceptibility as paradigm -- Genetic counselling in disorders of low penetrance -- Patient perspectives on genetic testing -- Index.
  • Digital
    Maria Cristina Galli, Mercedes Serabian, editors.
    Digital : Springer2015
    Print2015
    United States Food and Drug Administration Regulation of Gene and Cell Therapies -- The National Institutes of Health Oversight of Human Gene Transfer Research: Enhancing Science and Safety -- Regulatory Oversight of Cell and Gene Therapy Products in Canada -- Overview of the Regulatory Oversight Implemented by the French Regulatory Authorities for the Clinical Investigation of Gene Therapy and Cell Therapy Products -- Regulation of Clinical Trials with Advanced Therapy Medicinal Products in Germany -- Marketing Regulatory Oversight of Advanced Therapy Medicinal Products (ATMPs) in Europe: The EMA/CAT Perspective -- Requirements for Clinical Trials with Gene Therapy and Transplant Products in Switzerland -- Regulatory Frameworks for Gene and Cell Therapies in Japan -- Regulatory Oversight of Gene Therapy and Cell Therapy -- Regulation of Cell and Gene Therapy Medicinal Products in Taiwan -- Regulatory Oversight of Cell- and Tissue-Based Therapeutic Products and Gene Therapy Products in Singapore -- The Regulatory Pathway for Advanced Cell Therapy and Gene Therapy Products in Brazil: A Road to Be Built -- Index.
  • Digital
    edited by Sean Kehoe, Lyn Chitty, Tessa Homfray.
    Digital : Cambridge2009
    Genetic aetiology of infertility / Amu Bashamboo, Celia Ravel and Ken McElreavy -- Disorders of sex development / Lin Lin and John C. Achermann -- Preimplantation genetic diagnosis : current practice and future possibilities / Alison Lashwood and Tarek El-Toukhy -- Ethical aspects of saviour siblings : procreative reasons and the treatment of children / Mark Sheehan -- Epigenetics, assisted reproductive technologies and growth restriction / Jennifer M. Frost [and others] -- Fetal stem cell surgery / Jennifer Ruam, Michael Ting and Nicholas Fisk -- Prenatal gene therapy / Khalil Abi-Nader and Anna David -- Ethical aspects of stem cell therapy and gene therapy / Søren Holm -- Fetal dysmorphology : the role of the geneticist in the fetal medicine unit in targeting diagnostic tests / Tessa Homfray -- Fetal karotyping : what should we be offering and how? / John Crolla -- Non-invasive prenatal diagnosis : the future of prenatal genetic diagnosis? / Lyn Chitty, Gail Norbury and Helen White -- Non-invasive prenatal diagnosis for fetal blood group status / Geoff Daniels [and others] -- Selective termination of pregnancy and preimplantation genetic diagnosis : some ethical issues in the interpretation of legal criteria / rosamund Scott -- Implementation and auditing of new genetics and tests : translating genetic tests into practice in the NHS / Rob Elles and Ian Frayling -- New advances in prenatal genetic testing : the parent perspective / Jane Fisher -- Informed consent : what should we be doing? / Jenny Hewison and Louise Bryant -- Consensus views arising from the 57th Study Group : reproductive genetics.
  • Digital
    Johanna Roberta Schaub.
    Digital2012
    Primary cilia have critical sensory and signaling roles in development and disease. These functions rely on the proper localization of structural and signaling proteins to the cilium. Ciliary trafficking is the movement of proteins to, within, and from the cilium, processes that are regulated by several classes of proteins, for example: endo- and exocytic machinery, diffusion barriers, and motor proteins. To understand how ciliary trafficking is regulated we used gene expression data from multi-ciliated cells to identify two proteins involved in ciliary trafficking: the Rilp-like proteins Rilpl1 and Rilpl2. We took three approaches to characterizing these proteins: 1) examining localization of Rilpl1 and Rilpl2 in mammalian cells, 2) determining the phenotype of cells depleted of Rilpl1 and/or Rilpl2, and 3) identifying interaction partners. We found that Rilpl2 is up-regulated during ciliogenesis and localizes to the centrosome and primary cilium. Rilpl1 also localizes to the primary cilium and is a distal mother centriole protein with cell-cycle dependent localization. Additionally, Rilp-like proteins form dynamic tubules from the base of the cilium, which are microtubule dependent and induced by disruption of the actin network. Depletion of Rilpl1 and/or Rilpl2 from ciliated cells leads to an accumulation of signaling proteins in the ciliary membrane and disrupts epithelial cell organization in three-dimensional culture. We also determined that both Rilpl1 and Rilpl2 interact with Rab36. Taken together, our data suggest that Rilp-like proteins control ciliary protein content through the regulation of ciliary protein removal.
  • Digital
    edited by Jane Wu.
    Digital : Springer2013
    Print2013
    Coupling Between Transcription and Alternative Splicing / Ignacio E. Schor, Luciana I. Gómez Acuña, Alberto R. Kornblihtt -- Detection of Alternatively Spliced or Processed RNAs in Cancer Using Oligonucleotide Microarray / Marieta Gencheva ... [et al.] -- Cancer-Associated Perturbations in Alternative Pre-messenger RNA Splicing / Lulzim Shkreta ... [et al.] -- Alternative Splicing of Tumor Suppressors and Oncogenes / Claudia Ghigna, Silvano Riva, Giuseppe Biamonti -- MicroRNAs in Cancer / Jianzhong Jeff Xi -- The Perinucleolar Compartment: RNA Metabolism and Cancer / John T. Norton, Sui Huang -- Regulation of ARE-mRNA Stability by Cellular Signaling: Implications for Human Cancer / Christian Kroun Damgaard, Jens Lykke-Andersen -- Alternative Pre-mRNA Splicing, Cell Death, and Cancer / Kong Ruirui ... [et al.] -- Oligonucleotide Therapeutics in Cancer / Jing Wan, John A. Bauman, Maria Anna Graziewicz, Peter Sazani -- Clinical Perspective on Chemo-Resistance and the Role of RNA Processing / Nancy L. Krett, Shuo Ma, Steven T. Rosen.
  • Digital
    Patrick J. Paddison, Peter K. Vogt, editors.
    Digital : Springer2008
    Print2008
    RNA interference in mammalian cell systems / Patrick J. Paddison -- RNAi pathway in C. elegans: the argonautes and collaborators / Marie-Eve L. Boisvert and Martin J. Simard -- Genetics and biochemistry of RNAi in drosophila / Harsh H. Kavi ... [et al.] -- Role of dicer in posttranscriptional RNA silencing / Lukasz Jaskiewicz and Witold Filipowicz -- The mechanism of RNase III action: how dicer dices / Xinhua Ji -- MicroRNA metabolism in plants / Xuemei Chen -- Structure-function relationships among RNA-dependent RNA polymerases / Kenneth K.-S. Ng, Jamie J. Arnold, and Craig E. Cameron -- RNAi-mediated chromatin silencing in fission yeast / Sharon A. White and Robin C. Allshire -- A role for RNAi in heterochromatin formation in drosophila / Nicole C. Riddle and Sarah C.R. Elgin -- RNA mediated transcriptional gene silencing in human cells / Kevin V. Morris -- RNA silencing in mammalian oocytes and early embryos / Petr Svoboda -- Identifying human microRNAs / Isaac Bentwich.
  • Digital
    Piri Welcsh, editor.
    Digital : Springer2009
  • Print
    Nathaniel Comfort.
    Print2012
    "Keeping his focus on America, Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed that the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and skeptically"-- Provided by publisher.
  • Digital
    Sylvaine Renault, Philippe Duchateau [editors].
    Digital : Springer2013
    The post-genomic era has brought new challenges and opportunities in all fields of the biology. In this context, several genome engineering technologies have emerged that will help deciphering genes function by as well as improve gene therapy strategies. Genomic modifications such as knock-in, knock-out, knock-down, sequence replacement or modification can today be routinely performed. However, in front of this large palette of methodologies scientists may experience difficulties to gather useful information{u2019}s scattered within the literature. This book aims to present the state of this field from basic mechanisms of site-directed modifications to their applications in a wide range of organisms such as bacteria, yeast, plants, insects, mammals. It will discuss the problems encountered when using the random integration strategy and present the recent advances made in targeted genome modification. Technologies based on Zinc Finger nucleases, Meganucleases, TALEN, CRE and FLP recombinase, {uF06A}C31 integrase, transposases and resolvases are fully detailed with their strengths and weaknesses. All these information{u2019}s will help students and experienced researchers to understand and choose the best technology for their own purposes.
  • Digital
    Thomas Liehr ; with contributions by Unique (the rare chromosome disorder support group).
    Digital : Springer2012
    Introduction -- Inheritance of small supernumerary marker chromosomes -- Formation of small supernumerary marker chromosomes -- Small supernumerary marker chromosomes in genetic diagnostics and counseling -- Small supernumerary marker chromosomes known to be correlated with specific syndromes -- Centric small supernumerary marker chromosomes -- Neocentric small supernumerary marker chromosomes by chromosome -- Multiple small supernumerary marker chromosomes -- Small supernumerary marker chromosomes additionally to other chromosomal rearrangements -- Complex small supernumerary marker chromosomes -- Small supernumerary marker chromosomes and tumors -- Appendix: Patient organizations in connection with small supernumerary marker chromosomes -- Glossary.
  • Digital
    John M. Graham, Jr., Pedro A. Sanchez-Lara.
    Digital : ClinicalKey2016
  • Print
    John M. Graham, Jr.
    Print2007
    Status: Not Checked OutLane Catalog Record
  • Digital
    Kenneth Lyons Jones, MD., Professor of Pediatrics, Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California, Marilyn C. Jones, Professor of clinical Pediatrics, Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, Clinical Service Chief, Division of Genetics, Rady Children's Hospital, San Diego, California, Miguel Del Campo, Assistant Professor, Ciècias Experimentals i de la Salut, Universitat Pompeu Fabra, Consultant in Clinical Genetics, Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain.
    Digital : ClinicalKey2013
    This medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes.
  • Digital
    edited by Natalie Armstrong and Helen Eborall.
    Digital : Wiley2013
    "The Sociology of Medical Screening: Critical Perspectives, New Directions presents a series of readings that provide an up-to-date overview of the diverse sociological issues relating to population-based medical screening. Features new research data in most of the contributions. Includes contributions from eminent sociologists such as David Armstrong, Stefan Timmermans, and Alison Pilnick. Represents one of the only collections to specifically address the sociology of medical screening"--Provided by publisher.
  • Digital
    Andreas Ziegler and Inke R. König.
    Digital : Wiley2010
    Molecular genetics -- Formal genetics -- Genetic markers -- Data quality -- Genetic map distances -- Family studies -- Twin and adoption studies -- Model-based linkage analysis -- Model-free linkage analysis -- Quantitative traits -- Fundamental concepts of association analyses -- Association analysis in unrelated individuals -- Family-based association analysis -- Haplotypes in association analyses -- Genome-wide Association (GWA) studies.
  • Digital
    edited by Robert C. Elston, Jaya M. Satagopan, Shuying Sun.
    Digital : Springer Protocols2012
    Genetic terminology / Robert C. Elston, Jaya M. Satagopan, and Shuying Sun -- Identification of genotype errors / Yin Y. Shugart and Ying Wang -- Detecting pedigree relationship errors / Lei Sun -- Identifying cryptic relationships / Lei Sun and Apostolos Dimitromanolakis -- Estimating allele frequencies / Indra Adrianto and Courtney Montgomery -- Testing departure from Hardy-Weinberg proportions / Jian Wang and Sanjay Shete -- Estimating disequilibrium coefficients / Maren Vens and Andreas Ziegler -- Detecting familial aggregation / Adam C. Naj, Yo Son Park, and Terri H. Beaty -- Estimating heritability from twin studies / Karin J.H. Verweij [and others] -- Estimating heritability from nuclear family and pedigree data / Murielle Bochud -- Correcting for ascertainment / Warren Ewens and Robert C. Elston -- Segregation analysis using the unified model / Xiangqing Sun -- Design considerations for genetic linkage and association studies / Jérémie Nsengimana and D. Timothy Bishop -- Model-based linkage analysis of a quantitative trait / Audrey H. Schnell and Xiangqing Sun -- Model-based linkage analysis of a binary trait / Rita M. Cantor -- Model-free linkage analysis of a quantitative trait / Nathan J. Morris and Catherine M. Stein -- Model-free linkage analysis of a binary trait / Wei Xu [and others] -- Single marker association analysis for unrelated samples / Gang Zheng [and others] -- Single-marker family-based association analysis conditional on parental information / Ren-Hua Chung and Eden R. Martin -- Single marker family-based association analysis not conditional on parental information / Junghyun Namkung -- Allowing for population stratification in association analysis / Huaizhen Qin and Xiaofeng Zhu -- Haplotype inference / Xin Li and Jing Li -- Multi-SNP haplotype analysis methods for association analysis / Daniel O. Stram and Venkatraman E. Seshan -- Detecting rare variants / Tao Feng and Xiaofeng Zhu -- Analysis of ethnic mixtures / Xiaofeng Zhu -- Identifying gene interaction networks / Gurkan Bebek -- Structural equation modeling / Catherine M. Stein, Nathan J. Morris, and Nora L. Nock -- Genotype calling for the Affymetrix platform / Arne Schillert and Andreas Ziegler -- Genotype calling for the Illumina platform / Yik Ying Teo -- Comparison of requirements and capabilities of major multipurpose software packages / Robert P. Igo Jr. and Audrey H. Schnell.
  • Digital
    [edited by] Alexander Battler and Jonathan Leor.
    Digital : Springer2006
    Heart -- Neuro -- Musculoskeletal -- Kidney -- Eye -- Pancreas -- Hematology -- Skin.
  • Digital
    Jaap Jan Boelens, Robert Wynn, editors.
    Digital : Springer2013
    1. Lysosomal diseases and therapeutic options: an overview / Eveline J. Langereis and Frits A. Wijburg -- 2. Alternative treatment options: enzyme replacement and small molecule therapies / James Edmond Wraith and Simon Jones -- 3. Hematopoietic cell transplantation in inborn errors of metabolism / Jaap J. Boelens, Paul Szaboles, and Rob Wynn -- 4. Leukodystrophies and lysosomal storage disorders / Maria L. Escolar and Mieke Aldenhoven -- 5. Hematopoietic stem cell gene therapy for lysosomal storage disorders: expected benefits and limitations / Alessandra Biffi and Ilaria Visigalli -- 6. Alternative future therapies for lysosomal storage diseases: embryonic stem cell- and induced pluripotent stem cell therapy / Arie Koen Braat, Paul J. Coffer, and Niels Geijsen -- 7. Concluding comments and future directions / Robert Wynn and Jaap Jan Boelens.
  • Digital
    Thomas Bieber.
    Digital : Future Med2013
    Stratified medicine : a new challenge for academia, industry, regulators and patients -- Stratified medicine : a new era in the therapeutic approach -- Challenges for academic medicine and clinicians -- Challenges for diagnostics industry -- Challenges for the pharmaceutical industry -- Separate or codevelopment of biomarker and drug : the scenarios -- Challenges for the regulatory agencies in establishing an environment favorable for stratified medicine -- Challenges for the patients facing stratified medicine & personal genomics -- Conclusions & outlook to the future health system -- Stratified medicine : a challenging social experiment.
  • Digital
    Pankaj Sharma, James F. Meschia, editors.
    Digital : Springer2013
    Over the last decade there has been a substantial increase in our understanding of the genetic basis of common disorders such as stroke. Stroke Genetics is designed to give the reader an overall understanding of the genetics of complex diseases by using stroke as a paradigm. The reader will gain a comprehensive understanding of cerebrovascular genetics including the epidemiological evidence for the genetic basis of ischemic and hemorrhagic stroke, knowledge of its molecular basis from association, linkage and recent genome-wide studies, and also monogenic disorders. Finally, the legal and ethical complexities in dealing with these issues are discussed. Â Stroke Genetics benefits from the contribution of renowned experts from throughout the world who have been intimately involved in unraveling the genetic etiology of stroke. Stroke Genetics is a valuable resource for neurologists, stroke physicians, hypertension specialists, internists, clinical pharmacologists and those in training, as well as researchers in the field of disease genetics.
  • Digital
    Natalia Maltsev, Andrey Rzhetsky, T. Conrad Gilliam, editors.
    Digital : Springer2014
    Print2014
    "Understanding the genetic architecture underlying complex multigene disorders is one of the major goals of human genetics in the upcoming decades. Advances in whole genome sequencing and the success of high throughput functional genomics allow supplementing conventional reductionist biology with systems-level approaches to human heredity and health as systems of interacting genetic, epigenetic, and environmental factors. This integrative approach holds the promise of unveiling yet unexplored levels of molecular organization and biological complexity. It may also hold the key to deciphering the multigene patterns of disease inheritance"--Publisher's description.
  • Digital
    edited by Danny M. Hatters, Anthony J. Hannan.
    Digital : Springer Protocols2013
    Longitudinal imaging and analysis of neurons expressing polyglutamine-expanded proteins / Andrey S. Tsvetkov, D. Michael Ando, and Steven Finkbeiner -- Atomic force microscopy assays for evaluating polyglutamine aggregation in solution and on surfaces / Kathleen A. Burke and Justin Legleiter -- Morphometric analysis of Huntington's disease neurodegeneration in Drosophila / Wan Song ... [et al.] -- Size analysis of polyglutamine protein aggregates using fluorescence detection in an analytical ultracentrifuge / Saskia Polling, Danny M. Hatters, and Yee-Foong Mok -- Method for the incremental expansion of polyglutamine repeats in recombinant proteins / Amy L. Robertson and Stephen P. Bottomley -- Pulse shape analysis (PulSA) to track protein translocalization in cells by flow cytometry : applications for polyglutamine aggregation / Yasmin M. Ramdzan, Rebecca Wood, and Danny M. Hatters -- Characterizing social behavior in genetically targeted mouse models of brain disorders / Emma L. Burrows and Anthony J. Hannan -- PCR amplification and sequence analysis of GC-rich sequences : aristaless-related homeobox example / May H. Tan, Jozef Gécz, and Cheryl Shoubridge -- Challenges of "Sticky" co-immunoprecipitation : polyalanine tract protein-protein interactions / T.R. Mattiske ... [et al.] -- Molecular pathology of polyalanine expansion disorders : new perspectives from mouse models / James N. Hughes and Paul Q. Thomas -- Yeast as a platform to explore polyglutamine toxicity and aggregation / Martin L. Duennwald -- Immuno-based detection assays to quantify distinct mutant huntingtin conformations in biological samples / Gregor P. Lotz and Andreas Weiss -- Modeling and analysis of repeat RNA toxicity in Drosophila / S.E. Samaraweera ... [et al.] -- Analyzing modifiers of protein aggregation in C. elegans by native agarose gel electrophoresis / Mats Holmberg and Ellen A.A. Nollen -- Kinetic analysis of aggregation data / Regina M. Murphy -- Bioinformatics method for identifying Q/N-rich prion-like domains in proteins / Eric D. Ross ... [et al.] -- Detecting soluble polyQ oligomers and investigating their impact on living cells using split-GFP / Patrick Lajoie and Erik Lee Snapp -- Cell biological approaches to investigate polyglutamine-expanded AR metabolism / Lori J. Cooper and Diane E. Merry.
  • Digital
    Edward K. L. Chan, Marvin J. Fritzler, editors.
    Digital : Springer2013
    Print2013
    Introduction: The GW Body Story as an Example of Autoantibodies with Significant Impacts to Molecular Cell Biology -- The Discovery of GW Bodies -- The Discovery and Analysis of P Bodies -- Autoantibodies to Argonaute 2 (Su Antigen) -- GW/P-Bodies and Autoimmune Disease -- Function of GW182 and GW Bodies in siRNA and miRNA Pathways -- Post-transcriptional Stimulation of Gene Expression by MicroRNAs -- Gawky (GW) is the Drosophila melanogaster GW182 Homologue -- The Role of GW182 Proteins in miRNA-Mediated Gene Silencing -- Quantifying Argonaute Proteins In and Out of GW/P-Bodies: Implications in microRNA Activities -- Deadenylation and P-Bodies -- Relationship of GW/P-Bodies with Stress Granules -- Relationship of Other Cytoplasmic Ribonucleoprotein Bodies (cRNPB) to GW/P Bodies -- An SNP in the Trinucleotide Repeat Region of the TNRC6A Gene Maps to a Major TNGW1 Autoepitope in Patients with Autoantibodies to GW182 -- Reflections on Ten Years of History of, and Future Prospects for, GW182 and GW/P Body Research.
  • Digital
    edited by Karen Sermon, Professor, Research Group Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium, Stéphane Viville, professor, Institut de Génétique et de Biologie Móleculaire et Cellulaire (IGBMC), Institut National de Santé et de Recherche Médicale (INSERM), U964/Centre National de Recherche Scientifique (CNRS), UMR 1704/Université de Strasbourg, Illkirch, and Centre Hospitalier Universitaire, Strasbourg, France.
    Digital : Cambridge2014
    Basic genetics and cytogenetics : a brief reminder / Karen Sermon -- How to analyse a single blastomere? Application of whole-genome technologies : micro-arrays and next generation sequencing / Parveen Kumar, Masoud Zamani Esteki, Niels Van der Aa, and Thierry Voet -- Meiosis : how to get a good start in life / Ursula Eichenlaub-Ritter -- Chromosomes in early human embryo development : incidence of chromosomal abnormalities, underlying mechanisms and consequences for development / E.B. Baart and D. Van Opstal -- DNA is not the whole story : transgenerational epigenesis and imprinting / Ashwini Balakrishnan and J. Richard Chaillet -- Genes are not the whole story : retrotransposons as new determinants of male fertility / Patricia Fauque and Deborah Bourc'his -- Chromosomal causes of infertility : the story continues / Svetlana A. Yatsenko and Aleksandar Rajkovic -- Genes and infertility / Inge Liebaers, Elias Ellnati, Willy Lissens, and Stéphane Viville -- Genetic counselling & gamete donation in assisted reproductive treatment / Alison Lashwood and Alison Bagshawe -- Genetic testing for infertile patients / Willem Verpoest -- Preimplantation genetic diagnosis / Jan Traeger-Synodinos and Catherine Staessen -- Epigenetics and art / Esther Baart, Diane Van Opstal and Aafke van Montfoort -- Ethical considerations in human reproductive genetics / Guido de Wert and Wybo Dondorp.
  • Digital
    Howard Green.
    Digital : CRCnetBASE2010
    Cultured cells for therapy are now being prepared by industries in the US, Japan and Korea and are used in the aforesaid countries as well as France, Sweden and Greece, for the treatment of disease. This title describes the discoveries in the author's laboratory that led to therapy with cultured cells.
  • Digital
    Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard.
    Digital : ClinicalKey2016
    Introduction to the human genome -- The human genome: gene structure and function -- Human genetic diversity: mutation and polymorphism -- Principles of clinical cytogenetics and genome analysis -- The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes -- Patterns of single-gene inheritance -- Complex inheritance of common multifactorial disorders -- Genetic variation in populations -- Identifying the genetic basis for human disease -- The molecular basis of genetic disease : general principles and lessons from the hemoglobinopathies -- The molecular, biochemical, and cellular basis of genetic disease -- The treatment of genetic disease -- Developmental genetics and birth defects -- Cancer genetics and genomics -- Risk assessment and genetic counseling -- Prenatal diagnosis and screening -- Application of genomics to medicine and personalized health care -- Ethical and social issues in genetics and genomics.
  • Print
    Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard ; with clinical case studies updated and new cases prepared by Ada Hamosh.
    Print2007
    Status: Not Checked OutLane Catalog Record
  • Digital
    Monty Montano.
    Digital : ScienceDirect2015
  • Digital
    Alan Hunter Shain.
    Digital2012
    Pancreatic ductal adenocarcinoma, subsequently referred to as pancreatic cancer, is one of the most deadly cancers with a five-year survival of only 5%. Typical treatment regimens include surgery and chemotherapy while targeted therapies are lacking. A better understanding of the underlying cancer biology may yield novel therapeutic targets. The field of genomics has transformed our ability to study cancer. Over the past two decades, microarray and sequencing based innovations have enabled biology to be carried out at the --omic scale (discussed further in Chapter 1). This dissertation employs --omic level analysis to query the differences between the pancreatic cancer genome and the normal human genome. First, high throughput structural characterizations were performed in order to annotate the mutated, rearranged, deleted, and amplified genes across seventy pancreatic cancers. These assays identified hundreds of candidate cancer genes. Among these candidates, SMURF1 was validated to be an oncogene (Chapter 2). Furthermore, various subunits of the SWI/SNF chromatin remodeling complex were validated to be tumor suppressor genes (Chapter 3). While SMURF1 and SWI/SNF were validated individually, the other candidates from structural studies were evaluated in parallel shRNA competive growth screen. From this, we characterize nine genes further -- some previously known to play a role in cancer and some novel (Chapter 4). The sum total of all of this work is a much deeper understanding of the biology of pancreatic cancer, yielding many novel therapeutic targets and hopefully allowing scientists to gain a foothold in the fight against this disease.
  • Print
    [biochemistry author, Barbara Hansen, coauthors, Roger Lane, Sam Turco, David Seastone ; medical genetics author, Lynne B. Jorde, coauthors, Barbara Hansen, Vernon Reichenbecher].
    Print2011
    Status: Not Checked OutLane Catalog Record
    SECTION I. Molecular biology and biochemistry -- Chapter 1. Nucleic acid structure and organization -- Chapter 2. DNA replication and repair -- Chapter 3. Transcription and RNA processing -- Chapter 4. The genetic code, mutations, and translation -- Chapter 5. Regulation of eukaryotic gene expression -- Chapter 6. Recombinant DNA -- Chapter 7. Techniques of genetic analysis -- Chapter 8. Amino acids, proteins, and enzymes -- Chapter 9. Hormones -- Chapter 10. Vitamins -- Chapter 11. Overview of energy metabolism -- Chapter 12. Glycolysis and pyruvate dehydrogenase -- Chapter 13. Citric acid cycle and oxidative phosphorylation -- Chapter 14. Glycogen, gluconeogenesis, and the hexose monophosphate shunt -- Chapter 15. Lipid synthesis and storage -- Chapter 16. Lipid mobilization and catabolism -- Chapter 17. Amino acid metabolism -- Chapter 18. Purine and pyrimidine metabolism -- SECTION II. Medical genetics -- Chapter 1. Single-gene disorders -- Chapter 2. Population genetics -- Chapter 3. Cytogenetics -- Chapter 4. Genetics of common diseases -- Chapter 5. Gene mapping -- Chapter 6. Genetic diagnosis -- Index.
  • Digital
    edited by Francisco J. Pelegri.
    Digital : Springer Protocols2011
    Approaches and species in the history of vertebrate embryology / Nick Hopwood -- Manipulating and imaging the early Xenopus laevis embryo / Michael V. Danilchik -- Manipulation of gene function in Xenopus laevis / Mizuho S. Mimoto and Jan L. Christian -- Developmental genetics in Xenopus tropicalis / Timothy J. Geach and Lyle B. Zimmerman -- Embryological and genetic manipulation of chick development / Laura S. Gammill and Catherine E. Krull -- Embryological manipulations in zebrafish / Yuhua Sun, Dorota Wloga, and Scott T. Dougan -- Practical approaches for implementing forward genetic strategies in zebrafish / Sreelaja Nair and Francisco J. Pelegri -- Essential techniques for introducing medaka to a zebrafish laboratory -- towards the combined use of medaka and zebrafish for further genetic dissection of the function of the vertebrate genome / Sean R. Porazinski, Huijia Wang, and Makoto Furutani-Seiki -- Ex utero culture and live imaging of mouse embryos / Anna Piliszek, Gloria S. Kwon, and Anna-Katerina Hadjantonakis -- Detection of gene expression in mouse embryos and tissue sections / Edwina McGlinn and Jennifer H. Mansfield -- Gene targeting in the mouse / Anne E. Griep [and others] -- Creating a "hopeful monster" : mouse forward genetic screens / Vanessa L. Horner and Tamara Caspary -- Assisted reproductive technology in nonhuman primates / Tien-cheng Arthur Chang and Anthony W.S. Chan -- Embryological methods in ascidians : the Villefranche-sur-Mer protocols / Christian Sardet [and others] -- Ciona genetics / Michael T. Veeman, Shota Chiba, and William C. Smith -- Analyses of gene function in Amphioxus embryos by microinjection of mRNAs and morpholino oligonucleotides / Linda Z. Holland and Takayuki Onai -- Reptile embryology / Matthew K. Vickaryous and Katherine E. McLean -- Reproductive and developmental manipulation of the marsupial, the tammar wallaby Macropus eugenii / Marilyn B. Renfree and Andrew J. Pask -- Mutant generation in vertebrate model organisms by TILLING / Sylke Winkler, Nicola Gscheidel, and Michael Brand -- Inducing high rates of targeted mutagenesis in zebrafish using zinc finger nucleases (ZFNs) / Jasmine M. McCammon, Yannick Doyon, and Sharon L. Amacher -- Derivation of mouse embryonic stem cell lines from blastocysts produced by fertilization and somatic cell nuclear transfer / Zhongde Wang -- Cloning mice and ES cells by nuclear transfer from somatic stem cells and fully differentiated cells / Zhongde Wang -- Keeping two animal systems in one lab -- a frog plus fish case study / Hazel Sive -- Laboratory guidelines for animal care / Marcelo Couto.
  • Digital
    Krishna R. Dronamraju, Clair A. Francomano, editors.
    Digital : Springer2012
    Victor McKusick /; Krishna R. Dronamraju --; Family Life and Victor's Meeting the Unexpected /; Anne Bishop McKusick --; The McKusick Twins: A Personal Essay /; Vincent L. McKusick --; Personal Recollections of Victor /; Krishna R. Dronamraju --; Memories of Victor McKusick /; Don M. Long --; Memories of the Moore Clinic, 1960-1965 /; David J. Weatherall --; Cytogenetics and Early Days at the Moore Clinic with Victor McKusick /; Malcolm A. Ferguson-Smith --; Travels with Victor: Marfan Syndrome and Its Cousins /; Reed E. Pyeritz --; Homage for Victor McKusick /; Nicholas Avrion Mitchison --; How Did My Association with Victor Influence Me, My Career, and My Family? /; Digamber S. Borgaonkar --; The Assimilation of Classical Genetics into Human Genetics /; Elof Axel Carlson --; Genetic Studies in Isolated Populations: Victor McKusick's Contributions to Population Genetics /; Aravinda Chakravarti --; Victor A. McKusick and Medical Genetics Among the Amish /; Clair A. Francomano --; Dr. Victor A. McKusick and the Genetics of Dwarfism /; Clair A. Francomano and David L. Rimoin --; Clinical Genomicist in the Future of Medical Practice /; Edison T. Liu --; Victor McKusick and the History of Medical Genetics /; Peter S. Harper --; The Influence of Victor A. McKusick on the Development of Training in Medical Genetics in Europe and in the World /; Giovanni Romeo.
  • Digital
    [editors, Michael R. Speicher, Stylianos E. Antonarakis, Arno G. Motulsky].
    Digital : Springer2010
  • Digital
    Digital : Knovel2002
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