ISBN : 9781119240952
Author : Neeta Lakhani
Publisher : Wiley
Year : 2023
Language : English
Type : Book
Description : TABLE OF CONTENTS Contributors Foreword Preface Part 1 Introduction 1 What is Clinical Genetics and Genomic medicine? 2 Inheritance 3 Cytogenetic & Molecular genetic techniques 4 How to read a genetic test report 5 Genetic Counselling Part 2 Cardiology 6 Structure and Congenital Heart Disease 7 Ischamic Heart Disease 8 Cardiomyopthies 9 Arrhythmias and Sudden Cardiac Death Part 3 Dermatology 10 Tuberous Sclerosis 11 Gorlin syndrome 12 Dariers Disease 13 Lamellar Icthyosis 14 Mal De Meleda 15 Cutaneous Porphyria 16 Epidermolysis Bullosa 17 Cowden syndrome and Cowden-like syndrome 18 Muir-Torre Syndrome 18 X-linked Icthyosis 20 Birt-Hogg-Dube Part 4 Endocrinology 21 Disorders of sexual development and differentiation 22 Congenital adrenal hyperplasia 23 Androgen Insensitivity Syndrome 24 Klinefelters syndrome 25 Turners Syndrome 26 Diabetes Mellitus 27 Diabetes Insipidus 28 Fabry-Anderson Part 5 Metabolic 29 Introduction to the genetics of metabolic disorders 30 Overview of disorders of amino acid metabolism 31 Overview of disorders of carbohydrate metabolism 32 Overview of disorders of lipid metabolism 33 Overview of peroxisomal disorders 34 Disorders of purine and pyrimidine metabolism Part 6 Gastroenterology 35 IBD 36 Wilsons 37 Heamochromatosis 38 Coeliac Disease 39 Pancreatic cancer Part 7 Haematology 40 Malignant Haematology 41 Non malignanat Haematology Part 8 Immunology 42 Severe combined immunodeficiency 43 DNA repair defects 44 Congenital abnormalities affecting the development of the thymus 45 Common variable immunodeficiency 46 X-linked (and autosomal recessive) agammaglobulinaemia 47 Wiskott-Aldrich syndrome 48 Hyperimmunoglobulin M syndromes 49 Hyperimmunoglobulin E syndrome 50 Chronic mucocutaneous candidiasis 51 Genetic disorders associated with immune dysregulation and/or autoimmunity 52 Genetic disorders associated with familial haemophagocytic lymphohistiocytosis 53 Mendelian susceptibility to mycobacterial disease 54 Chronic granulomatous disease 55 Defects in leukocyte migration 56 Defects of Toll like receptors and their signalling pathways 57 Complement deficiencies 58 Autoinflammatory diseases and periodic fever syndromes Part 9 Neurology 59 SMA 60 MND/ALS 61 Fragile X 62 HD 63 Dementia 64 Parkinsons 65 Myotonic dystrophy Part 10 Paediatrics and Obstetrics 66 Fetal anomaly screening 67 Prenatal diagnostic testing and Preimplantation Genetic Diagnosis 68 Edwards ' Syndrome 69 Patau syndrome 70 Williams syndrome 71 Di George syndrome Part 11 Oncology 72 Introduction to Cancer 73 Neurofibromatosis 74 Urological Cancers 75 Peutz-Jegher Syndrome 76 Von Hippel-Lindau 77 Inherited Bowel (Lower GI) Cancers 78 Inherited upper GI cancers 79 Inherited Breast Cancer 80 Retinoblastoma 81 Multiple Endocrine Neoplasia Part 12 Opthalmology 82 Congential and Childhood Cataracts 83 Colour blindness and Achromatopsia 84 Retinitis Pigmentosa 85 Primary Congential Glaucoma 86 Bardet-Biedl Syndrome Part 13 Renal 87 PCKD 88 Nephronophthisis 89 Medullary cystic kidney disease 90 Tuberous sclerosis 91 von Hippel-Lindau 92 Alport syndrome 93 Cystinosis 94 Cystinuria Part 14 MSK 95 Marfans 96 EDS 97 Congenital Limb Deficiencies 98 DMD 99 Charcot–Marie–Tooth (CMT) 100 Ankylosing Spondylitis 101 Skeletal dysplasias Glossary Index