{"product_id":"medical-genetics-at-a-glance-3e-9780470656549","title":"Medical Genetics at a Glance 3e","description":"\u003cb\u003eBook Synopsis\u003c\/b\u003e\u003cbr\u003eMedical Genetics at a Glance covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders.\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTrade Review\u003c\/b\u003e\u003cbr\u003e\u003cp\u003e“An extended Case Studies section Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award.”  (\u003ci\u003eNewbooks.lib\u003c\/i\u003e, 2 September 2014)\u003c\/p\u003e \u003cp\u003e \u003c\/p\u003e\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTable of Contents\u003c\/b\u003e\u003cbr\u003e\u003cp\u003ePreface to the first edition 7\u003cbr\u003e \u003cbr\u003e Preface to the third edition 7\u003cbr\u003e \u003cbr\u003e Acknowledgements 8\u003cbr\u003e \u003cbr\u003e List of abbreviations 9\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 1 Overview\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 1 The place of genetics in medicine 12\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 2 The Mendelian approach\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 2 Pedigree drawing 14\u003cbr\u003e \u003cbr\u003e 3 Mendel’s laws 16\u003cbr\u003e \u003cbr\u003e 4 Principles of autosomal dominant inheritance and pharmacogenetics 19\u003cbr\u003e \u003cbr\u003e 5 Autosomal dominant inheritance, clinical examples 22\u003cbr\u003e \u003cbr\u003e 6 Autosomal recessive inheritance, principles 25\u003cbr\u003e \u003cbr\u003e 7 Consanguinity and major disabling autosomal recessive conditions 28\u003cbr\u003e \u003cbr\u003e 8 Autosomal recessive inheritance, life-threatening conditions 31\u003cbr\u003e \u003cbr\u003e 9 Aspects of dominance 34\u003cbr\u003e \u003cbr\u003e 10 X-linked and Y-linked inheritance 36\u003cbr\u003e \u003cbr\u003e 11 X-linked inheritance, clinical examples 38\u003cbr\u003e \u003cbr\u003e 12 Mitochondrial inheritance 40\u003cbr\u003e \u003cbr\u003e 13 Risk assessment in Mendelian conditions 42\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 3 Basic cell biology\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 14 The cell 44\u003cbr\u003e \u003cbr\u003e 15 The chromosomes 46\u003cbr\u003e \u003cbr\u003e 16 The cell cycle 48\u003cbr\u003e \u003cbr\u003e 17 Biochemistry of the cell cycle 50\u003cbr\u003e \u003cbr\u003e 18 Gametogenesis 52\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 4 Basic molecular biology\u003cbr\u003e \u003cbr\u003e \u003c\/b\u003e 19 DNA structure 54\u003cbr\u003e \u003cbr\u003e 20 DNA replication 56\u003cbr\u003e \u003cbr\u003e 21 The structure of genes 58\u003cbr\u003e \u003cbr\u003e 22 Production of messenger RNA 60\u003cbr\u003e \u003cbr\u003e 23 Non-coding RNA 62\u003cbr\u003e \u003cbr\u003e 24 Protein synthesis 64\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 5 Genetic variation\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 25 Types of genetic alterations 66\u003cbr\u003e \u003cbr\u003e 26 Mutagenesis and DNA repair 68\u003cbr\u003e \u003cbr\u003e 27 Genomic imprinting 70\u003cbr\u003e \u003cbr\u003e 28 Dynamic mutation 73\u003cbr\u003e \u003cbr\u003e 29 Normal polymorphism 76\u003cbr\u003e \u003cbr\u003e 30 Allele frequency 79\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 6 Organization of the human genome\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 31 Genetic linkage and genetic association 82\u003cbr\u003e \u003cbr\u003e 32 Physical gene mapping 84\u003cbr\u003e \u003cbr\u003e 33 Gene identifi cation 86\u003cbr\u003e \u003cbr\u003e 34 Clinical application of linkage and association 88\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 7 Cytogenetics\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 35 Chromosome analysis 90\u003cbr\u003e \u003cbr\u003e 36 Autosomal aneuploidies 92\u003cbr\u003e \u003cbr\u003e 37 Sex chromosome aneuploidies 94\u003cbr\u003e \u003cbr\u003e 38 Chromosome structural abnormalities 96\u003cbr\u003e \u003cbr\u003e 39 Chromosome structural abnormalities, clinical examples 98\u003cbr\u003e \u003cbr\u003e 40 Contiguous-gene and single-gene syndromes 102\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 8 Embryology and congenital abnormalities\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 41 Human embryology in outline 106\u003cbr\u003e \u003cbr\u003e 42 Body patterning 108\u003cbr\u003e \u003cbr\u003e 43 Sexual differentiation 110\u003cbr\u003e \u003cbr\u003e 44 Abnormalities of sex determination 112\u003cbr\u003e \u003cbr\u003e 45 Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation 114\u003cbr\u003e \u003cbr\u003e 46 Congenital abnormalities arising at the fetal stage 117\u003cbr\u003e \u003cbr\u003e 47 Development of the heart 120\u003cbr\u003e \u003cbr\u003e 48 Cardiac abnormalities 122\u003cbr\u003e \u003cbr\u003e 49 Facial development and dysmorphology 124\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 9 Multifactorial inheritance and twin studies\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 50 Principles of multifactorial disease 127\u003cbr\u003e \u003cbr\u003e 51 Multifactorial disease in children 130\u003cbr\u003e \u003cbr\u003e 52 Common disorders of adult life 133\u003cbr\u003e \u003cbr\u003e 53 Twin studies 136\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 10 Cancer\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 54 The signal transduction cascade 138\u003cbr\u003e \u003cbr\u003e 55 The eight hallmarks of cancer 140\u003cbr\u003e \u003cbr\u003e 56 Familial cancers 142\u003cbr\u003e \u003cbr\u003e 57 Genomic approaches to cancer management 144\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 11 Biochemical genetics\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 58 Disorders of amino acid metabolism 146\u003cbr\u003e \u003cbr\u003e 59 Disorders of carbohydrate metabolism 149\u003cbr\u003e \u003cbr\u003e 60 Metal transport, lipid metabolism and amino acid catabolism defects 152\u003cbr\u003e \u003cbr\u003e 61 Disorders of porphyrin and purine metabolism and the urea\/ornithine cycle 156\u003cbr\u003e \u003cbr\u003e 62 Lysosomal, glycogen storage and peroxisomal diseases 160\u003cbr\u003e \u003cbr\u003e 63 Biochemical diagnosis 165\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 12 Immunogenetics\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 64 Immunogenetics, cellular and molecular aspects 168\u003cbr\u003e \u003cbr\u003e 65 Genetic disorders of the immune system 170\u003cbr\u003e \u003cbr\u003e 66 Autoimmunity, HLA and transplantation 173\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 13 Molecular diagnosis\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 67 DNA hybridization-based analysis systems 176\u003cbr\u003e \u003cbr\u003e 68 DNA sequencing 179\u003cbr\u003e \u003cbr\u003e 69 The polymerase chain reaction 182\u003cbr\u003e \u003cbr\u003e 70 DNA profiling 184\u003cbr\u003e \u003cbr\u003e \u003cb\u003ePart 14 Genetic counselling, disease management, ethical and social issues\u003c\/b\u003e\u003cbr\u003e \u003cbr\u003e 71 Reproductive genetic counselling 186\u003cbr\u003e \u003cbr\u003e 72 Prenatal sampling 188\u003cbr\u003e \u003cbr\u003e 73 Avoidance and prevention of disease 191\u003cbr\u003e \u003cbr\u003e 74 Management of genetic disease 194\u003cbr\u003e \u003cbr\u003e 75 Ethical and social issues in clinical genetics 197\u003cbr\u003e \u003cbr\u003e Self-assessment case studies: questions 200\u003cbr\u003e \u003cbr\u003e Self-assessment case studies: answers 205\u003cbr\u003e \u003cbr\u003e Glossary 214\u003cbr\u003e \u003cbr\u003e Appendix 1: the human karyotype 219\u003cbr\u003e \u003cbr\u003e Appendix 2: information sources and resources 220\u003cbr\u003e \u003cbr\u003e Index 222\u003c\/p\u003e","brand":"John Wiley and Sons Ltd","offers":[{"title":"Default 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