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Genetics, MedicalAccess restricted to Stanford Community unless noticed otherwise

  • Methods and platforms for the quantification of splice variants' expression /Laurent Bracco ... [et al.] --Pre-mRNA missplicing as a cause of human disease /Tatyana Novoyatleva ... [et al.] --Alternative splicing : therapeutic target and tool /Mariano A. Garcia-Blanco --SR proteins as potential targets for therapy /Johann Soret, Mathieu Gabut, Jamal Tazi --Misregulation of tau alternative splicing in neurodegeneration and dementia /Athena Andreadis --Spinal muscular atrophy and therapeutic prospects /Brunhilde Wirth, Lars Brichta, Eric Hahnen --Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy /N. Muge Kuyumcu-Martinez, Thomas A. Cooper --Redirecting splicing to address dystrophin mutations : molecular by-pass surgery /Stephen D. Wilton, Susan Fletcher --Altered splicing in prelamin A-associated premature aging phenotypes /Annachiara De Sandre-Giovannoli, Nicolas Levy --Splicing modulation as a modifier of the CFTR function /Malka Nissim-Rafinia, Batsheva Kerem.
  • 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.
  • Arcadia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Amniotic band syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Beckwith-Wiedemann syndrome -- Behcet disease -- Bladder exstrophy -- Body stalk anamoly -- Branchial clefts anamolies -- Campomelic dysplasia -- Cat eye syndrome -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE Association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip and/or cleft palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Collodion baby -- Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hydrocephalus -- Congenital hypothyriodism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus callosum agenesis/dysgenesis -- Craniometaphysical dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(22q11.2) syndromes -- Diabetic embryopathy -- Down syndrome -- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome -- Dhlers-Danlos syndrome --Ellis-van Creveld syndrome -- Enchondromatosis (Maffucci syndrome; Ollier syndrome) -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) dysplasia -- Facioscapulohumeral muscular dystrophy -- Familial adenomatous polyposis -- Familial hyperlysinemia -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification of infancy -- Glucose 6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II -- Goldenhar syndrome -- Hallermann-Streiff syndrome -- Harlequin ichthyosis (harlequin fetus) -- Hemophilia A -- Hereditary hemochromatosis -- Hereditary multiple exostoses -- Holoprosencephaly -- Holt-Oram syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactylia syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Kabuki syndrome -- Kasabach-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia --Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Menkes disease (Kinky-hair syndrome) -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Möbius syndrome -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler polydystrophy) -- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes -- Mucopolysaccharidosis II (Hunter syndrome) -- Mucopolysaccharidosis III (Sanfilippo syndrome) -- Mucopolysaccharidosis IV (Morquio syndrome) -- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy type I -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis I -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Osteogenesis imperfecta -- Osteopetrosis --Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, autosomal dominant type -- Polycystic kidney disease, autosomal recessive type -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embyopathy -- Rett syndrome -- Rickets -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Schizencephaly -- Schmid metaphyseal chondrodysplasia -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly syndromes -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked ichthyosis -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female -- XYY syndrome.
  • 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.
  • 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.
  • 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.
  • Cancer genetics 2010, Springer
  • Cardiac gene expression 2007, Springer Protocols
  • Cardiovascular genomics 2005, Springer
    Angiotensin II receptor polymorphisms and hypertension / Bruno Baudin -- Angiotensinogen gene polymorphisms and hypertension / Ashok Kumar -- Substitution mapping: using congenic strains to detect genes controlling blood pressure / Bina Joe and Michael R. Garrett -- Local production of angiotensinogen: insights from genetic manipulation of mice / Kamal Rahmouni and Curt D. Sigmund -- Cardiovascular pharmacogenomics / Julie A. Johnson and Larisa H. Cavallari -- Genetic polymorphisms and responses to HMG-CoA, reductase inhibitors / Anke-Hilse Maitland-van der Zee, Olaf H. Klungel, and Anthonius de Boer -- Monogenic causes of heart failure: familial dilated cardiomyopathy / Hideko Kasahara -- Gene therapy vs. pharmacotherapy / Ryuichi Morishita -- Molecular therapeutic approaches for myocardial protection / Alok S. Pachori, Luis G. Melo, and Victor J. Dzau -- Gene transfer and the cardiovascular system / William H. Miller ... [et al.] -- Kallikrein gene transfer in hypertension, cardiovascular and renal disease, and stroke / Julie Chao and Lee Chao -- Current and future novel targets of gene therapy for hypertension / Michael J. Katovich, Justin L. Grobe, and Mohan K. Raizada -- Application of viral gene transfer in studies of neurogenic hypertension / Sergey Kasparov, A.G. Teschemacher, and Julian F.R. Paton -- Vigilant vectors: intelligent gene vectors for cardioprotection in myocardial ischemia / M. Ian Phillips and Yi Tang -- Gene therapy for cerebral arterial diseases / Yoshimasa Watanabe and Donald D. Heistad -- Therapeutic angiogenesis and vasculogenesis for tissue regeneration / Paolo Madeddu -- Cell transplantation: the new frontier / Shafie Fazel ... [et al.] -- Embryonic stem cells and the cardiovascular system / Neta Lavon and Nissim Benvenisty.
  • The First Fifty Years of Mendelism -- 1. The Introduction of Mendelism into Human Genetics / Milo Keynes -- 2. Galton's Theory of Ancestral Inheritance / Michael Bulmer -- 3. The Reception of Mendelism by the Biometricians and the Early Mendelians (1899-1909) / Eileen Magnello -- 4. Mendelism and Man 1918-1939 / A.W.F. Edwards -- 5. William Bateson, Archibald Garrod and the Nature of the
  • Chromosomal alterations 2007, Springer
  • Clinical cancer genetics 2012, Wellcome Trust
    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.
  • Clinical cardiogenetics 2011, Springer
    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.
  • 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.
  • The biology of cytokines : general principles, properties and lessons from animal models / Davide Agnello and Massimo Gadina -- Genetics of multifactorial disorders / Jorge R. Oksenberg and John D. Rioux -- Statistical approaches to analysis of polymorphisms in multifactorial disorders / An Goris and Mariza de Andrade -- Introduction to integrated bioinformatic resources for cytokine genetics research / Ross Lazarus -- Cytokine gene nucleotide sequence alignments / Jeffrey Bidwell -- SNP genotyping techniques / Pui-Yan Kwok -- The IL1 cluster / Tanja Pessi ... [et al.] -- IL-2 biology and polymorphisms in multifactorial conditions / Fuencisla Matesanz, María Fedetz, and Antonio Alcina -- The chromosome 5q23.1-q 31.1 cluster of cytokines / Tarja Laitinen -- IL10 / Ross Lazarus --; The IL19 subfamily of cytokines / Sulev Kõks ... [et al.] -- The IFNG-IL26-IL22 cytokine gene cluster / Koen Vandenbroeck and An Goris -- TNF polymorphisms and disease / Reginald M. Gorczynski and Ivo Boudakov -- Macrophage migration inhibitory factor (MIF) / Zaynab Alourfi, David W. Ray, and Rachelle Donn -- Polymorphisms of chemokines and their receptors / Bénédicte Puissant, Christophe Combadière, and Elise Lavergne -- Asthma and atopy / Jussi Karjalainen ... [et al.] -- Common rheumatic diseases / Rachael Kilding and Anthony G. Wilson -- Systemic lupus erythematosus / Sandra D'Alfonso -- Sjögren's syndrome / Marja Pertovaara -- Multiple sclerosis / Orhun H. Kantarci and Brian G. Weinshenker --; Type 1 and 2 diabetes / Regine Bergholdt and Flemming Pociot -- Psoriasis / Sulev Kõks ... [et al.] -- Diseases of the gastrointestinal tract / Thomas Höhler -- Pulmonary fibrosis / Berran Yucesoy and Michael I. Luster -- Atherosclerosis / Giuseppina Candore ... [et al.] -- Longevity / Irene Maeve Rea ... [et al.] -- AIDS / Alexandre Vasilescu, Hervé Do, and Jean-Francois Zagury -- Tropical infectious diseases / Thereza Quirico-Santos ... [et al.] -- Suseptibility to infection and severe disease in schistosomiasis / Violaine Arnaud and Christophe Chevillard.
  • 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.
  • Diseases of DNA repair 2010, Springer
    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.
  • 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.
  • Electroporation protocols 2008, Springer Protocols
    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.
  • 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.
  • Volume 1. 0-9-F -- volume 2. G-O -- volume 3. P-Z.
  • v. 1. A-L -- v. 2. M-Z.
  • 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.
  • 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.
  • Epigenetic epidemiology 2012, Springer
    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.
  • Epigenetics and pathology 2014, CRCnetBASE
    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.
  • 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.
  • Epigenomics 2009, Springer
  • 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.
  • Eugenic nation 2005, ebrary
    Introduction -- 1. Race betterment and tropical medicine in imperial San Francisco -- 2. Quarantine and eugenic gatekeeping on the U.S-Mexico border -- 3. Instituting eugenics in California -- 4. California's eugenic landscapes -- 5. Centering eugenics on the family -- 6. Contesting hereditarianism: reassessing the 1960s -- Epilogue.
  • Fabry disease 2010, Springer
  • 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.
  • Gene therapy for cancer 2007, Springer
    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.
  • 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.].
  • 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.].
  • Gene therapy. 1st ed. 2006, ScienceDirect
  • Genetic cardiomyopathies 2013, Springer
  • 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.
  • 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.
  • Genetic hearing loss 2004, CRCnetBASE
  • 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.
  • Genetic landscape of diabetes 2004, NCBI Bookshelf
  • Genetic testing 2003, Wellcome Trust
  • 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.
  • 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.
  • 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.
  • 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.
  • Genetics of movement disorders 2003, ScienceDirect
  • Genome and disease 2006., Karger
    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.].
  • Genome integrity 2007, Springer
    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.
  • Genome of Homo sapiens 2003, Cold Spring Harb Lab Press
    Human genome sequence -- Human genetic variation -- Genome structure and evolution -- Genomics of non-human species -- Bioinformatics and annotation -- Comparing genomes -- Comparative functional genomics -- Genetic variation and disease -- Genome biology and disease -- Human evolution.
  • 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.
  • v. 1. Principles, methodology, and translational approaches -- v. 2. Genome discoveries and clinical applications.
  • Genomic disorders 2006, Springer
    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.
  • Genomic imprinting 2008, Springer
    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.
  • Genomic revolution 2002, ebrary
    Making the genome public : the American Museum of Natural History and the coming age of genomics / Michael Yudell and Rob DeSalle -- Genome science and the new frontier -- Introduction / Nicholas Wade -- What does knowing about genomes mean for science and society? / Harold Varmus -- Sequencing the human genome : elucidating our genetic blueprint / Eric Green -- Whole-genome shotgun sequencing / J. Craig Venter -- After the genome: where should we go? / Leroy Hood -- Applications of genomics to medicine and agriculture -- Introduction / Robert Bazell -- Genomics : a rapid road from gene to patient / William Haseltine -- The origins of cancer and the human genome / Arnold J. Levine -- Gene diversity in the endorphin system: SNPs, chips, and possible implications / Mary Jeanne Kreek -- Genomics and biotechnology in agriculture / Barbara A. Schaal -- Exploring human variation : understanding identity in the genomic era -- Introduction / Rob DeSalle -- Using maternal and paternal genes to unlock human history / Douglas C. Wallace -- Eugenics, the genome, and human rights / Daniel J. Kevles -- Redesigning the self: the promise and perils of genetic enhancement / David J. Rothman and Sheila M. Rothman -- Financial, legal, and ethical issues and the new genomics -- Introduction / Michael Waldholz -- Investing in the biotechnology sector / Kris H. Jenner -- The role of patents in exploiting the genome / Rebecca Eisenberg -- Social side effects of the new human molecular genetic diagnostics / Troy Duster -- Mapping morality : the rights and wrongs of genomics / Arthur l. Caplan -- Summing up : finding our way through the revolution / Kathi E. Hanna.
  • Genomics of disease 2008, Springer
  • 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.
  • Introduction to ABC protein and gene organization -- Nomenclature -- Overview of human ABC gene subfamilies -- ABC genes and human genetic disease -- Mouse knockouts -- Multidrug resistance and cancer therapy -- Phylogenetic analysis of human ABC genes -- Mouse ABC genes -- Drosophila ABC genes -- ABCA genes -- ABCB genes -- ABCC genes -- ABCD genes -- ABCE genes -- ABCF genes -- ABCG genes.
  • Human genome epidemiology 2004., MyiLibrary
  • Human medical research 2012, Springer
    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.
  • 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.
  • 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.
  • David Escors and Karine Breckpot --Development of Retroviral and Lentiviral Vectors /David Escors, Grazyna Kochan, Holly Stephenson and Karine Breckpot --Cell and Tissue Gene Targeting with Lentiviral Vectors /David Escors, Grazyna Kochan, Holly Stephenson and Karine Breckpot --Immunomodulation by Genetic Modification Using Lentiviral Vectors /Frederick Arce, Karine Breckpot, Grazyna Kochan and David Escors --Clinical Grade Lentiviral Vectors /Grazyna Kochan, David Escors, Holly Stephenson and Karine Breckpot --Human Gene Therapy with Retrovirus and Lentivirus Vectors /Grazyna Kochan, Holly Stephenson, Karine Breckpot and David Escors.
  • 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.
  • 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.
  • 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.
  • 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.
  • MHC protocols 2002, Springer Protocols
  • "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.
  • MicroRNA in cancer 2013, Springer
    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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Molecular medicine 2005, MyiLibrary
    History of molecular medicine -- DNA, RNA, genes and chromosomes -- Mendelian genetic traits -- Complex genetic traits -- Genomics, proteomics, and bioinformatics -- Genetic and cellular therapies -- Reproduction and development -- Infectious diseases -- Forensic medicine and science -- Ethical, legal, and social issues.
  • Molecular medicine. 4th ed. 2012, ScienceDirect
  • Muscle gene therapy 2010, Springer
  • Neurofibromatoses 2008, Karger
    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.
  • Neurogenetics 2002, Springer Protocols
  • Non-viral gene therapy 2005, Springer
  • 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.
  • Nucleolus 2011, Springer
  • 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.
  • OMMBID 2001
  • Pharmacogenomics. 2nd ed. 2005, CRCnetBASE
    Historical aspects of pharmacogenetics / Werner Kalow -- Pharmacogenomics and the promise of personalized medicine / Vural Ozdemir and Bernard Lerer -- Pharmacogenetics of drug metabolism: two clinically important polymorphic enzymes, CYP2D6 and TPMT / Georgios Panagiotidis and Leif Bertilsson -- Receptors / Wendell W. Weber -- Pharmacogenetics of drug transporters / Catia Marzolini, Rommel G. Tirona, and Richard B. Kim -- Variability in induction of human drug metabolizing enzymes / Allan B. Okey -- Pharmacogenetics and cardiac ion channels / Dan M. Roden -- Interethnic differences in drug response / Werner Kalow -- Clinical perspectives / Urs A. Meyer and David A. Flockhart -- Regulatory perspectives on pharmacogenomics / Lawrence J. Lesko and Janet Woodcock -- Tools of the trade: the technologies and challenges of pharmacogenetics / Glenn A. Miller -- Technologies for the analysis of single nucleotide polymorphisms - an overview / Denis M. Grant -- Molecular diagnostics / Tracy L. Stockley and Peter N. Ray --
  • Polymeric gene delivery 2005, CRCnetBASE
  • The molecular basis of intervertebral disc degeneration / Leo, B.M.; Walker, M.H.; Anderson, D.G. -- Genetics of degenerative disc disease / Kurpad, S.N.; Lifshutz, J. -- Gene therapy for degenerative disc disease / Kim, J.; Gilbertson, L.G.; Kang, J.D. -- Bone morphogenetic proteins: spinal fusion applications / Bomback, D.A.; Grauer, J.N. -- Cellular and gene therapy approaches to spinal cord injury / Steinmetz, M.P.; Liu, J.K.; Boulis, N.M. -- Neural stem cell transplantation for spinal cord repair / Iwanami, A. ... [et al.] -- Contemporary applications of functional and stereotactic techniques for molecular neurosurgery / Couldwell, W. -- Xeno-neurotransplantation / Schumacher, J.M. -- Molecular mechanisms of epilepsy and gene therapy / Telfeian, A.; Celix, J.; Dichter, M. -- Adeno-associated viral (AAV) vectors for clinical gene therapy in the brain / Samulski, R.J. --Molecular mechanisms of epilepsy and gene therapy / Telfeian, A.; Celix, J.; Dichter, M. -- Emerging treatment of neurometabolic disorders / Brady, R.O.; Brady, R.O. Jr. -- Gene therapy for Parkinson's disease / Hadaczek, P.; Daadi, M.; Bankiewicz, K. -- Simplifying complex neurodegenerative diseases by gene chip analysis / Scherzer, C.R.; Gullans S.R.; Jensen, R.V. -- Molecular pathology of dementia: emerging treatment strategies / Gouras, G.K. -- Expanding the role of deep brain stimulation from movement disorders to other neurological disorders / Leone, M. ... [et al.] -- Molecular mediators of pain / Chaudhary P.; Burchiel, K. -- Gene transfer in the treatment of pain / Fink, D.; Mata, M.; Glorioso, J.C. -- Gene discovery underlying stroke / Barone, F.C.; Read, S.J. -- Molecular mediators of hemorrhagic stroke / Macdonald, R.L. -- Advances towards cerebrovascular gene therapy / Watanabe, Y.; Heistad, D.D. -- Ex vivo gene therapy and cell therapy for stroke / Kondziolka, D.; Sheehan, J.; Niranjan, A. -- Neurosurgical applications for polymeric drug delivery systems / Wang, P.P.; Brem, H. -- Immunotherapy strategies for treatment of malignant gliomas / Harshyne, L.; Flomenberg, P.; Andrews, D.W. --'Glioma-genesis': signaling pathways for the development of molecular onco-therapy / Kapoor, G.S.; O'Rourke, D.M. -- Oncolytic viral therapy for glioma / Lamfers, M.L.M.; Visted, T.; Chiocca, E.A. -- Molecular neurosurgery in the pituitary gland: gene transfer as adjunctive treatment strategy -- Castro, M.G. ... [et al.] -- Stem cells for targeting CNS malignancy / Yip, S.; Sidman, R.L.; Snyder, E.Y.
  • Psychopharmacogenetics 2006, Springer
  • 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.
  • RNA and cancer 2013, Springer
    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.
  • Selective sweep 2005, Springer
    Inferring evolutionary history through inter- and intraspecific DNA sequence comparison : the Drosophila janus and ocnus genes / John Parsch, Colin D. Meiklejohn and Daniel L. Hart -- Rapid evolution of sex-related genes : sexual conflict or sex-specific adaptations? / Alberto Civetta and Rama S. Singh -- Selective sweep in the evolution of a new sperm-specific gene in Drosophila / Rob J. Kulathinal ... [et al.] -- Detecting selective sweeps with haplotype tests : hitchhiking and haplotype tests / Frantz Depaulis, Sylvain Mousset and Michel Veuille -- A novel test statistic for the identification of local selective sweeps based on microsatellite gene diversity / Christian Schlutterer and Daniel Dieringer -- Detecting hitchhiking from patterns of DNA polymorphism / Justin C. Fay and Chung-I Wu -- Periodic selection and ecological diversity in bacteria / Frederick M. Cohan -- Distribution and abundance of polymorphism in the malaria genome / Stephen M. Rich -- Selective sweeps in structured populations-empirical evidence and theoretical studies / Thomas Wiehe, Karl Schmid and Wolfgang Stephan.
  • "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.
  • 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.
  • Heart -- Neuro -- Musculoskeletal -- Kidney -- Eye -- Pancreas -- Hematology -- Skin.
  • Stroke genetics 2013, Springer
  • Suicide gene therapy 2004, Springer Protocols
  • 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.
  • 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.
all 141 titles

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