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|Additional Physical Format:||Print version:
Tobias, Edward S.
Essential Medical Genetics
Hoboken : John Wiley & Sons, c2011
|Material Type:||Document, Internet resource|
|Document Type:||Internet Resource, Computer File|
|All Authors / Contributors:||
Edward S Tobias; Michael Connor; M A Ferguson-Smith
|Notes:||Diabetes mellitus: common and monogenic forms.|
|Description:||1 online resource (345 p.)|
|Contents:||Title page; Table of Contents; Preface; Acknowledgements; How to get the best out of your textbook; Part 1: Basic Principles; Medical genetics in perspective; Scientific basis of medical genetics; Clinical applications of medical genetics; The human genome; Structure and organisation of the genome; Gene identification; The Human Genome Project; Nucleic acid structure and function; Nucleic acid structure; Nucleic acid function; Gene regulation; DNA replication; Mutation types, effects and nomenclature; DNA analysis; Basic methods; Mutation detection; Indirect mutant gene tracking. Analysis of DNA length polymorphismsAnalysis of single nucleotide polymorphisms; Chromosomes; Chromosome structure; Chromosome analysis; Chromosome heteromorphisms; Chromosomes in other species; Mitochondrial chromosomes; Mitosis; Gametogenesis; Meiosis; Spermatogenesis; Oogenesis; Fertilisation; X-inactivation and dosage compensation; Sex chromosome aberrations; Sex determination and differentiation; Genomic imprinting (parental imprinting); Chromosome aberrations; Numerical aberrations; Structural aberrations; Cytogenetic and molecularm ethods for the detection of chromosomal aberrations. Identification of the chromosomal origin of complex structural rearrangementsTypical mendelian inheritance; Introduction to autosomal single-gene inheritance; Autosomal dominant inheritance; Autosomal recessive inheritance; Introduction to sex linked inheritance; X-linked recessive inheritance; X-linked dominant inheritance; Y-linked inheritance (holandric inheritance); Atypical mendelian inheritance; Genetic anticipation; Pseudoautosomal inheritance; Autosomal dominant inheritance with sex limitation; Pseudodominant inheritance; X-linked dominant inheritance with male lethality; Mosaicism. Modifier genes and digenic inheritanceUniparental disomy; Imprinting disorders; Non-mendelian inheritance; Multifactorial disorders; Mitochondrial disorders; Somatic cell genetic disorders; Medical genetics in populations; Selection for single-gene disorders; Founder effect and genetic drift for single-gene disorders; Altered mutation rate for single-gene disorders; Linkage analysis and the International HapMap Project; Human population evolution and migration; Part 2: Clinical Applications; Genetic assessment, genetic counselling and reproductive options; Communication of advice. Special points in counsellingPrenatal diagnosis; Amniocentesis; Chorionic villus sampling; Cordocentesis, fetal skin biopsy and fetal liver biopsy; Ultrasonography; Fetal cells in the maternal circulation; Free fetal DNA and RNA detection; Preimplantation genetic diagnosis; Family history of cancer; General principles; Tumour suppressor genes; Genes involved in DNA repair mechanisms; Oncogenes; Other cancer-related genes; Genetic counselling aspects of cancer; Common familial cancer predisposition syndromes; Family history of common adult-onset disorder; General principles.|
Adopted at Cambridge UniversityEssential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular ge.
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