{"product_id":"essential-medical-genetics-includes-desktop-edition-isbn-9781405169745","title":"Essential Medical Genetics, Includes Desktop Edition","description":"\u003cp\u003e\u003cb\u003eAdopted at Cambridge University\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003ci\u003eEssential Medical Genetics\u003c\/i\u003e 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.\u003c\/p\u003e \u003cp\u003eThis \u003ci\u003esixth edition\u003c\/i\u003e has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.\u003c\/p\u003e \u003cp\u003e\u003ci\u003eEssential Medical Genetics\u003c\/i\u003e is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).\u003c\/p\u003e \u003cp\u003eThe companion website at \u003cb\u003ewww.wiley.com\/go\/tobias\u003c\/b\u003e features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.\u003c\/p\u003e \u003cp\u003eThis title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from \u003cb\u003eiTunes\u003c\/b\u003e, \u003cb\u003eGoogle Play\u003c\/b\u003e or the \u003cb\u003eMedHand Store\u003c\/b\u003e.\u003c\/p\u003e \u003cp\u003ePreface vii\u003c\/p\u003e \u003cp\u003eAcknowledgements ix\u003c\/p\u003e \u003cp\u003eHow to get the best out of your textbook x\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 1: Basic principles 1\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003e1 Medical genetics in perspective 3\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eScientific basis of medical genetics 5\u003c\/p\u003e \u003cp\u003eClinical applications of medical genetics 9\u003c\/p\u003e \u003cp\u003e\u003cb\u003e2 The human genome 13\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eStructure and organisation of the genome 14\u003c\/p\u003e \u003cp\u003eGene identification 14\u003c\/p\u003e \u003cp\u003eThe Human Genome Project 14\u003c\/p\u003e \u003cp\u003e\u003cb\u003e3 Nucleic acid structure and function 23\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eNucleic acid structure 24\u003c\/p\u003e \u003cp\u003eNucleic acid function 26\u003c\/p\u003e \u003cp\u003eGene regulation 29\u003c\/p\u003e \u003cp\u003eDNA replication 31\u003c\/p\u003e \u003cp\u003eMutation types, effects and nomenclature 32\u003c\/p\u003e \u003cp\u003e\u003cb\u003e4 DNA analysis 41\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eBasic methods 42\u003c\/p\u003e \u003cp\u003eMutation detection 43\u003c\/p\u003e \u003cp\u003eIndirect mutant gene tracking 52\u003c\/p\u003e \u003cp\u003eAnalysis of DNA length polymorphisms 53\u003c\/p\u003e \u003cp\u003eAnalysis of single-nucleotide polymorphisms 54\u003c\/p\u003e \u003cp\u003e\u003cb\u003e5 Chromosomes 57\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eChromosome structure 58\u003c\/p\u003e \u003cp\u003eChromosome analysis 59\u003c\/p\u003e \u003cp\u003eChromosome heteromorphisms 65\u003c\/p\u003e \u003cp\u003eChromosomes in other species 66\u003c\/p\u003e \u003cp\u003eMitochondrial chromosomes 68\u003c\/p\u003e \u003cp\u003eMitosis 69\u003c\/p\u003e \u003cp\u003e\u003cb\u003e6 Gametogenesis 73\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eMeiosis 74\u003c\/p\u003e \u003cp\u003eSpermatogenesis 76\u003c\/p\u003e \u003cp\u003eOogenesis 78\u003c\/p\u003e \u003cp\u003eFertilisation 78\u003c\/p\u003e \u003cp\u003eX-inactivation and dosage compensation 79\u003c\/p\u003e \u003cp\u003eSex chromosome aberrations 80\u003c\/p\u003e \u003cp\u003eSex determination and differentiation 83\u003c\/p\u003e \u003cp\u003eGenomic imprinting (parental imprinting) 83\u003c\/p\u003e \u003cp\u003e\u003cb\u003e7 Chromosome aberrations 89\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eNumerical aberrations 90\u003c\/p\u003e \u003cp\u003eStructural aberrations 92\u003c\/p\u003e \u003cp\u003eCytogenetic and molecular methods for the detection of chromosomal aberrations 100\u003c\/p\u003e \u003cp\u003eIdentification of the chromosomal origin of complex structural rearrangements 107\u003c\/p\u003e \u003cp\u003eOther aberrations 111\u003c\/p\u003e \u003cp\u003e\u003cb\u003e8 Typical Mendelian inheritance 117\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eIntroduction to autosomal single-gene inheritance 118\u003c\/p\u003e \u003cp\u003eAutosomal dominant inheritance 118\u003c\/p\u003e \u003cp\u003eAutosomal recessive inheritance 120\u003c\/p\u003e \u003cp\u003eIntroduction to sex-linked inheritance 123\u003c\/p\u003e \u003cp\u003eX-linked recessive inheritance 125\u003c\/p\u003e \u003cp\u003eX-linked dominant inheritance 127\u003c\/p\u003e \u003cp\u003eY-linked inheritance (holandric inheritance) 128\u003c\/p\u003e \u003cp\u003e\u003cb\u003e9 Atypical Mendelian inheritance 131\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eGenetic anticipation 132\u003c\/p\u003e \u003cp\u003ePseudoautosomal inheritance 134\u003c\/p\u003e \u003cp\u003eAutosomal dominant inheritance with sex limitation 134\u003c\/p\u003e \u003cp\u003ePseudodominant inheritance 134\u003c\/p\u003e \u003cp\u003eX-linked dominant inheritance with male lethality 135\u003c\/p\u003e \u003cp\u003eMosaicism 135\u003c\/p\u003e \u003cp\u003eModifier genes and digenic inheritance 135\u003c\/p\u003e \u003cp\u003eUniparental disomy 136\u003c\/p\u003e \u003cp\u003eImprinting disorders 136\u003c\/p\u003e \u003cp\u003e\u003cb\u003e10 Non-Mendelian inheritance 141\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eMultifactorial disorders 142\u003c\/p\u003e \u003cp\u003eSomatic cell genetic disorders 147\u003c\/p\u003e \u003cp\u003eMitochondrial disorders 147\u003c\/p\u003e \u003cp\u003e\u003cb\u003e11 Medical genetics in populations 151\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eSelection for single-gene disorders 152\u003c\/p\u003e \u003cp\u003eFounder effect and genetic drift for single-gene disorders 153\u003c\/p\u003e \u003cp\u003eAltered mutation rate for single-gene disorders 154\u003c\/p\u003e \u003cp\u003eLinkage analysis and the International Hapmap Project 154\u003c\/p\u003e \u003cp\u003eHuman population evolution and migration 155\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 2: Clinical applications 161\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003e12 Genetic assessment, genetic counselling and reproductive options 163\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eCommunication of advice 164\u003c\/p\u003e \u003cp\u003eSpecial points in counselling 168\u003c\/p\u003e \u003cp\u003ePrenatal diagnosis 170\u003c\/p\u003e \u003cp\u003eAmniocentesis 170\u003c\/p\u003e \u003cp\u003eChorionic villus sampling 174\u003c\/p\u003e \u003cp\u003eCordocentesis, fetal skin biopsy and fetal liver biopsy 175\u003c\/p\u003e \u003cp\u003eUltrasonography 175\u003c\/p\u003e \u003cp\u003eFetal cells in the maternal circulation 175\u003c\/p\u003e \u003cp\u003eFree fetal DNA and RNA detection 175\u003c\/p\u003e \u003cp\u003ePreimplantation genetic diagnosis 176\u003c\/p\u003e \u003cp\u003e\u003cb\u003e13 Family history of cancer 179\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eGeneral principles 180\u003c\/p\u003e \u003cp\u003eTumour suppressor genes 181\u003c\/p\u003e \u003cp\u003eGenes involved in DNA repair mechanisms 187\u003c\/p\u003e \u003cp\u003eOncogenes 187\u003c\/p\u003e \u003cp\u003eOther cancer-related genes 189\u003c\/p\u003e \u003cp\u003eGenetic counselling aspects of cancer 189\u003c\/p\u003e \u003cp\u003eCommon familial cancer predisposition syndromes 189\u003c\/p\u003e \u003cp\u003e\u003cb\u003e14 Family history of common adult-onset disorder 199\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eGeneral principles 200\u003c\/p\u003e \u003cp\u003eDiabetes mellitus: common and monogenic forms 200\u003c\/p\u003e \u003cp\u003eDementia: Alzheimer disease, Huntington disease, prion diseases and other causes 202\u003c\/p\u003e \u003cp\u003e\u003cb\u003e15 Strong family history – typical Mendelian disease 209\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eCystic fibrosis 210\u003c\/p\u003e \u003cp\u003eDuchenne and Becker muscular dystrophies 212\u003c\/p\u003e \u003cp\u003eNeurofibromatosis type 1 214\u003c\/p\u003e \u003cp\u003e\u003cb\u003e16 Strong family history – other inheritance mechanisms 219\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eMyotonic dystrophy 220\u003c\/p\u003e \u003cp\u003eFragile X syndrome 221\u003c\/p\u003e \u003cp\u003eMitochondrial disorder 222\u003c\/p\u003e \u003cp\u003eImprinting-related disorder 223\u003c\/p\u003e \u003cp\u003eChromosomal translocation 224\u003c\/p\u003e \u003cp\u003e\u003cb\u003e17 Screening for disease and for carriers 229\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003ePrenatal screening 230\u003c\/p\u003e \u003cp\u003eNeonatal screening 233\u003c\/p\u003e \u003cp\u003eCarrier detection in the adult population 234\u003c\/p\u003e \u003cp\u003ePresymptomatic screening of adults 237\u003c\/p\u003e \u003cp\u003e\u003cb\u003e18 Family history of one or more congenital malformations 241\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eAetiology 242\u003c\/p\u003e \u003cp\u003eChromosomal disorders 243\u003c\/p\u003e \u003cp\u003eNeural tube defects 247\u003c\/p\u003e \u003cp\u003eTeratogenic effects 250\u003c\/p\u003e \u003cp\u003eMultiple malformation syndromes 253\u003c\/p\u003e \u003cp\u003e\u003cb\u003ePart 3: Electronic databases – a user’s guide 265\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003e19 Electronic databases – a user’s guide 267\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003eFinding information regarding specific conditions and names of associated genes 268\u003c\/p\u003e \u003cp\u003eLaboratories undertaking genetic testing 270\u003c\/p\u003e \u003cp\u003ePatient information and support groups 270\u003c\/p\u003e \u003cp\u003eGene- and protein-specific sequence, structure, function and expression information 272\u003c\/p\u003e \u003cp\u003eNucleotide sequences and human mutations 281\u003c\/p\u003e \u003cp\u003eAutomatic primer design tools 281\u003c\/p\u003e \u003cp\u003eDisplaying map data for genes and markers 287\u003c\/p\u003e \u003cp\u003eOnline missense mutation analysis tools 288\u003c\/p\u003e \u003cp\u003eComputer-aided syndrome diagnosis 293\u003c\/p\u003e \u003cp\u003eProfessional genetics societies 297\u003c\/p\u003e \u003cp\u003eThe Human Genome Project: ethics and education 297\u003c\/p\u003e \u003cp\u003eSelf-assessment – answers 305\u003c\/p\u003e \u003cp\u003eAppendix 1: Odds, probabilities and applications of Bayes’ theorem 312\u003c\/p\u003e \u003cp\u003eAppendix 2: Calculation of the coefficients of relationship and inbreeding 314\u003c\/p\u003e \u003cp\u003eAppendix 3: Population genetics of single-gene disorders 315\u003c\/p\u003e \u003cp\u003eAppendix 4: Legal aspects 317\u003c\/p\u003e \u003cp\u003eGlossary 318\u003c\/p\u003e \u003cp\u003eIndex 324\u003c\/p\u003e \u003cp\u003e\"\u003ci\u003eEssential Medical Genetics\u003c\/i\u003e is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).\" (\u003ci\u003eMedReport\u003c\/i\u003e, 9 October 2012)\u003c\/p\u003e \u003cp\u003e\"I have watched this textbook from its first inception and was disappointed that there was no new edition for so many years. Having waited, the result now is excellent and it has overcome my preference for \u003ci\u003eEmery's Elements\u003c\/i\u003e as a basic human genetics text.\"\u003cbr\u003e—\u003cb\u003eEmeritus Professor in Clinical Genetics\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\"I find the reference to electronic resources particularly useful, especially for people who approach clinical genetics for the first time and are not familiar with these tools.\" \u003cbr\u003e—\u003cb\u003eDr Sixto García-Miñaúr, Imperial College London, and Hospital Universitario La Paz, Madrid, Spain\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eReviews of the previous edition\u003c\/b\u003e\u003cbr\u003e\"This book is an easy to read, well illustrated introduction to medical genetics. It deals nicely with all the classical aspects of the subject...\"\u003cbr\u003e—\u003cb\u003eBlack Bag, Medical Students' Society of Bristol University\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\"...a justifiably popular introductory text.\"\u003cbr\u003e—\u003cb\u003e\u003ci\u003eThe British Medical Journal\u003c\/i\u003e\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eEdward S. Tobias\u003c\/b\u003e, Professor of Genetic Medicine, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Regional Genetics Service, Institute of Medical Genetics, Glasgow. Medical Genetics undergraduate Teaching Lead, Clinical Director, MSc in Medical Genetics, and Fellow of the Higher Education Authority.\u003cbr\u003eDr Tobias won the Best College Teacher Award at Glasgow University in March 2013, as chosen by the Student Representative Council and the students themselves.\u003cbr\u003eHe also won the Teaching Excellence Award 2012 from the University's Principal and Senate Committee.\u003cbr\u003eGlasgow University came top in the UK National Student Survey 2012 for Genetics teaching.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eMichael Connor\u003c\/b\u003e, Professor of Medical Genetics, University of Glasgow, and Director of the West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill, Glasgow.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eMalcolm Ferguson-Smith\u003c\/b\u003e, Emeritus Professor of Pathology, University of Cambridge and formerly Director of the East Anglia Regional Genetics Service, Addenbrooke's Hospital, Cambridge.\u003c\/p\u003e \u003ci\u003eEssential Medical Genetics\u003c\/i\u003e 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. \u003cp\u003eThis sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; ‘Essentials’ chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.\u003c\/p\u003e \u003cp\u003e\u003ci\u003eEssential Medical Genetics\u003c\/i\u003e is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).\u003c\/p\u003e \u003cp\u003eThe companion website at \u003cb\u003ewww.wiley.com\/go\/tobias\u003c\/b\u003e features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.\u003c\/p\u003e","brand":"Wiley-Blackwell","offers":[{"title":"Default Title","offer_id":47989156643045,"sku":"NP9781405169745","price":58.0,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9781405169745.jpg?v=1761783025","url":"https:\/\/k12savings.com\/es\/products\/essential-medical-genetics-includes-desktop-edition-isbn-9781405169745","provider":"K12savings","version":"1.0","type":"link"}