Emery and Rimoin's Principles and Practice of Medical Genetics e-dition, 5th Edition - Continually Updated Online Reference, 3-Volume Set
By David L. Rimoin, MD, PhD, J. Michael Connor, Reed E. Pyeritz, MD, PhD and Bruce R. Korf, MD, PhD
3637 pages 840 ills
Trim size 8 1/2 X 10 7/8 in
Text with Continually Updated Online Reference! The most definitive and trusted reference in medical genetics is back–complete with state-of-the-art web site! The fifth edition of this comprehensive yet practical resource emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world’s most trusted authorities in medical genetics. The E-dition features the 5th edition of the textbook, additional new images, weekly updates, and more! With the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies, Principles and Practice of Medical Genetics will be an invaluable clinical tool for the practicing physician.
Bridges the gap between high-level molecular genetics and individual application with practical, clinically oriented information.
Includes information on analysis, interpretation, potential problems, and other issues that directly relate to the practicing geneticist.
Addresses sensitive issues that may be encountered in practice like carrier screening, prediction, confidentiality, liability, and more.
New to this Edition
Features contributions from many new authors—The “best and brightest” in the field.
Contains a wealth of new information on the human genome, the genetic and molecular basis of disease, and much more.
Regular updates from experts in the field, so Emery and Rimoin’s stays current year after year.
The full text and illustrations – fully searchable – to save time when looking for a fact quickly.
An image library, downloadable to PowerPoint, to enhance presentations or lectures.
Medline-linked references and direct links to full-text articles, where available, to expand access to important research.
Drug information from Mosby’s Drug Consult . . . and much more.
Table of Contents
1 History of Medical Genetics 2 Medicine in a Genetic Context 3 Nature and Frequency of Genetic Disease 4 Genome Structure and Gene Expression 5 Mutations in Human Disease: Nature and Consequences 6 Mendelian Inheritance 7 Segregation Analysis 8 Analysis of Genetic Linkage 9 Chromosomal Basis of Inheritance 10 Morbid Anatomy of the Human Genome 11 Mitochondrial Genes in Degenerative Diseases, Cancer and Aging 12 Genetic Analysis of Complex Traits 13 Population Genetics 14 Pathogenetics of Disease 15 Genetic Epidemiology 16 Human Developmental Genetics 17 Human Malformations 18 Twins and Twinning 19 The Molecular Biology of Cancer 20 The Biologic Basis of Aging: Implications for Medical Genetics 21 Pharmacogenetics and Pharmacogenomics
22 Genetic Assessment and Pedigree Analysis 23 Genetic Risk Assessment for Common Disease 24 Risk Estimation in Genetic Counseling 25 Cytogenetic Analysis 26 Diagnostic Molecular Genetics 27 Heterozygote Testing and Carrier Screening 28 Prenatal Screening for Neural Tube Defects and Aneuploidy 29 Techniques for Prenatal Diagnosis 30 Neonatal Screening 31 Genetic Counseling 32 Gene Therapy Strategies for the Treatment of Neurodegenerative and Other Genetic Diseases 33 Ethical and Social Issues in Clinical Genetics 34 Legal Issues in Genetics in Medicine
APPROACHES TO CLINICAL PROBLEMS
35 The Genetic Basis of Female Infertility 36 Male Infertility 37 Fetal Loss 38 A Clinical Approach to the Dysmorphic Child 39 Clinical Teratology 40 Abnormal Mental Development 41 Abnormal Body Size and Proportion 42 Susceptibility and Response to Infection 43 Transplantation Genetics
APPROACHES TO SPECIFIC DISORDERS
44 Down Syndrome and other Autosomal Trisomies 45 Sex Chromosome Abnormalities 46 Deletions and Other Structural Abnormalities of the Autosomes
47 Congenital Heart Disease 48 Common Genetic Determinants of Coagulation and Fibronolysis 49 Cardiomyopathies 50 Familial Dysrhythmias and Conduction Disorders 51 Molecular Basis of Human Hypertension 52 Preeclampsia 53 Genetic Determinants of Atherosclerotic Heart Disease and Other Occlusive Arterial Disorders 54 Hereditary Disorders or the Lymphatic and Venous Systems
55 Cystic Fibrosis 56 Asthma 57 Hereditary Pulmonary Emphysema 58 Interstitial and Restrictive Pulmonary Disorders
59 Congenital Disorders or the Urinary Tract 60 Renal Cystic Diseases 61 Nephrotic Disorders 62 Renal Tubular Disorders 63 Cancer of the Kidney and Urogenital Tract
64 Gastrointestinal Tract and Hepatobiliary Duct System 65 Inflammatory Bowel Disease 66 Bile Pigment Metabolism and its Disorders 67 Cancer of the Colon and Gastrointestinal Tract
68 Hemoglobinopathies and Thalassemias 69 Other Hereditary Red Blood Cell Disorders 70 Hemophilias and Other Disorders of Hemostasis 71 Rhesus and Other Fetomaternal Incompatibilities 72 Leukemias, Lymphomas and Other Related Disorders
73 Autoimmunity: Genetics and Immunological Mechanisms 74 Systemic Lupus Erythematosus 75 Rheumatoid Disease and Other Inflammatory Arthropathies 76 Amyloidosis and Other Protein Deposition Diseases 77 Immunodeficiency Disorders 78 Complement Defects 79 Disorders of Leukocyte Function
80 Genetic Disorders of the Pituitary Gland 81 Thyroid Disorders 82 Parathyroid Disorders 83 Diabetes Mellitus 84 Genetic Disorders of the Adrenal Gland 85 Disorders of the Gonads, Genital Tract and Genitalia 86 Cancer of the Breast and Female Reproductive Tract
87 Disorders of the Body Mass 88 Amino Acid Metabolism 89 Disorders of Carbohydrate Metabolism 90 Purine and Pyrimidine Metabolism 91 Lipoprotein and Lipid Metabolism 92 Disorders of Fatty Acid Transport and Mitochondrial Oxidation 93 Organic Acidemias and Disorders of Fatty Acid Oxidation 94 Vitamin D Metabolism or Action 95 Inherited Porphyrias 96 Copper Metabolism 97 Iron Metabolism and Related Disorders 98 Mucopolysaccharidoses 99 Oligosaccharridoses and Allied Disorders 100 Gangliosidoses and Related Lipid Storage Diseases 101 Peroxisomal Disorders
MENTAL AND BEHAVIORAL DISORDERS
102 Genetics of Personality 103 Fragile X Syndrome and Other Causes of X-linked Mental Handicap 104 Dyslexia and Other Specific Learning Disorders 105 Attention Deficit Hyperactivity Disorder 106 Autism and Other Behavioral Disorders 107 Alzheimer Disease and Other Dementias 108 Schizophrenia 109 Major Mood Disorders 110 Addictive Disorders
111 Clinical Genetics of Neural Tube Defects and other Congenital Central Nervous System Malformations 112 Genetic Disorders of Cerebral Cortical Development 113 The Epilepsies 114 Basal Ganglia Disorders 115 The Hereditary Ataxias 116 Hereditary Spastic Paraplegia 117 Autonomic and Sensory Disorders 118 The Phakomatoses 119 Multiple Sclerosis and Other Demyelinating Disorders 120 Cerebrovascular Disorders 121 Primary Tumors of the Nervous System
122 Congenital Muscular Dystrophies 123 Duchenne and Other X-linked Muscular Dystrophies 124 Autosomally Inherited Muscular Dystrophies 125 Hereditary Motor and Sensory Neuropathies 126 Congenital (Structural) Myopathies 127 Spinal Muscular Atrophies 128 Nondystrophic Myotonias and Periodic Paralyses 129 Myotonic Dystrophy 130 Hereditary and Autoimmune Myasthenias 131 Motor Neurone Disease
132 Color Vision Defects 133 Optic Atrophy and Congenital Blindness 134 Glaucoma 135 Defects of the Cornea 136 Anomalies of the Lens 137 Hereditary Retinal and Choroidal Degenerations 138 Strabismus 139 Retinoblastoma
140 Hereditary hearing impairment
141 Craniosynostosis 142 Craniofacial Disorders
143 Abnormalities of Pigmentation 144 Ichthyosiform Dermatoses 145 Epidermolysis Bullosa 146 Ectodermal Dysplasias 147 Other Genetic Disorders of the Skin 148 Skin Cancer
CONNECTIVE TISSUE DISORDERS
149 Marfan Syndrome and Other Disorders of Fibrillin 150 Ehlers-Danlos Syndrome 151 Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
152 Chondrodysplasias 153 Disorders of Bone Density, Volume and Mineralization 154 Abnormalities of Bone Structure 155 The Dysostoses 156 Arthrogryposes (Multiple Congenital Contractures) 157 Common Skeletal Deformities 158 158 Hereditary Noninflammatory Arthropathies