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  • Book
    Birgit Zirn, Karl Mehnert, eds.
    Summary: Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students. .

    Contents:
    Part I Basics: Chromosomes, genes, proteins
    chromosome analysis
    FISH
    Array CGH
    Gene Analysis
    Sequencing: Sanger and NGS
    Part II Cytogenetics: Female Chromosome Set (46, XX)
    Male Chromosome Set (46, XY)
    Germ Cell Formation, Fertilization, Non-Disjunction
    Trisomy 21 (Down syndrome)
    Trisomy 13/18
    Klinefelter Syndrome
    Turner Syndrome
    Triple X Syndrome
    Triploidy
    Reciprocal Translocation
    Robertson Translocation
    Part III Prenatal Diagnosis: Basis Risk
    Maternal Age Risk
    Chorionic Villus Sampling (CVS)
    Amniocentesis (AC)
    Non-Invasive Prenatal Test (NIPT)
    Chromosome Disorders: Pregnancy And Childbirth
    Part IV Heredities: Autosomal Dominant Inheritance
    Autosomal Recessive Inheritance
    X-Linked Inheritance
    Mitochondrial Inheritance
    Germ Cell Mosaic
    Part V Fertility: Repeated Miscarriages
    Pregnancy: Ovulation To Implantation
    IVF and ICSI
    Polar Body And Pre-Implantation Diagnostics
    Relatives
    Part Vi Cancers: How Does Cancer Develop?
    Colon Cancer
    Breast And Ovarian Cancer
    Part VII Frequent Questions: Developmental Disorder
    Fragile X Syndrome
    Prader-Willi Syndrome 40 Angelman Syndrome
    Noonan Syndrome
    Microdeletion Syndrome 22q11
    Neuroflbromatose
    Marfan Syndrome 45 Cystic Fibrosis
    Metabolic Disorders
    Myotonic Dystrophy Type 1
    Huntington's Chorus
    Hemophilia
    Thrombophilia.
    Digital Access Springer 2019
  • Article
    Hamra LK, Pankiewicz IJ.
    Med J Aust. 1977 Nov 26;2(22):749-50.
    Sensitivity tests were performed on 332 consecutive isolates of Candida albicans. All isolates were inhibited by 0.5 microgram/ml of amphotericin B, and 6.4 microgram/ml of nystatin; and 92.5% of strains were inhibited by 25 microgram/ml of 5-fluorocytosine. Therefore, all three drugs may be employed clinically in the treatment of candidiasis with a reasonable chance of success.
    Digital Access Access Options