Half Title Page.
Personal Memories of David Rimoin.
1: Basic Principles.
2: History of Medical Genetics.
3: Medicine in a Genetic Context.
4: Nature and Frequency of Genetic Disease.
5: Genomics and Proteomics.
6: Genome and Gene Structure.
8: Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences.
9: Genes in Families.
10: Analysis of Genetic Linkage.
11: Chromosomal Basis of Inheritance.
12: Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging.
13: Multifactorial Inheritance and Complex Diseases.
14: Population Genetics.
15: Pathogenetics of Disease.
16: Human Developmental Genetics.
17: Twins and Twinning.
18: The Molecular Biology of Cancer.
19: The Biological Basis of Aging: Implications for Medical Genetics.
20: Pharmacogenetics and Pharmacogenomics.
21: General Principles.
22: Genetic Evaluation for Common Diseases of Adulthood.
23: Genetic Counseling and Clinical Risk Assessment.
24: Cytogenetic Analysis.
25: Diagnostic Molecular Genetics.
26: Heterozygote Testing and Carrier Screening.
27: Prenatal Screening for Neural Tube Defects and Aneuploidy.
28: Techniques for Prenatal Diagnosis.
29: Neonatal Screening.
30: Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease.
31: Gene Therapy: From Theoretical Potential to Clinical Implementation.
32: Ethical and Social Issues in Clinical Genetics.
33: Legal Issues in Genetic Medicine.
34: Applications to Clinical Problems.
35: Genetics of Female Infertility in Humans.
36: Genetics of Male Infertility.
37: Fetal Loss.
38: A Clinical Approach to the Dysmorphic Child.
39: Clinical Teratology.
40: Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism.
41: Abnormal Body Size and Proportion.
42: Susceptibility and Response to Infection.
43: Transplantation Genetics.
44: The Genetics of Disorders Affecting the Premature Newborn.
45: Disorders of DNA Repair and Metabolism.
46: Applications to Specific Disorders.
47: Chromosomal Disorders.
48: Autosomal Trisomies.
49: Sex Chromosome Abnormalities.
50: Deletions and Other Structural Abnormalities of the Autosomes.
51: Cardiovascular Disorders.
52: Congenital Heart Defects.
53: Inherited Cardiomyopathies.
54: Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension.
55: Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome).
56: Hereditary Disorders of the Lymphatic System and Varicose Veins.
57: The Genetics of Cardiac Electrophysiology in Humans.
58: Genetics of Blood Pressure Regulation.
60: Common Genetic Determinants of Coagulation and Fibrinolysis.
61: Genetics of Atherosclerotic Cardiovascular Disease.
62: Disorders of the Venous System.
63: Capillary Malformation/Arteriovenous Malformation.
64: Respiratory Disorders.
65: Cystic Fibrosis.
66: Genetic Underpinnings of Asthma and Related Traits.
67: Hereditary Pulmonary Emphysema.
68: Interstitial and Restrictive Pulmonary Disorders.
69: Renal Disorders.
70: Congenital Anomalies of the Kidney and Urinary Tract.
71: Cystic Diseases of the Kidney.
72: Nephrotic Disorders.
73: Renal Tubular Disorders.
74: Cancer of the Kidney and Urogenital Tract.
75: Gastrointestinal Disorders.
76: Gastrointestinal Tract and Hepatobiliary Duct System.
77: Bile Pigment Metabolism and Its Disorders.
78: Cancer of the Colon and Gastrointestinal Tract.
79: Hematologic Disorders.
80: Hemoglobinopathies and Thalassemias.
81: Other Hereditary Red Blood Cell Disorders.
82: Hemophilias and Other Disorders of Hemostasis.
83: Rhesus and Other Fetomaternal Incompatibilities.
84: Leukemias, Lymphomas, and Other Related Disorders.
85: Immunologic Disorders Autoimmunity: Genetics and Immunologic Mechanisms.
86: Systemic Lupus Erythematosus.
87: Rheumatoid Disease and Other Inflammatory Arthropathies.
88: Amyloidosis and Other Protein Deposition Diseases.
89: Immunodeficiency Disorders.
90: Inherited Complement Deficiencies.
91: Endocrinologic Disorders.
92: Disorders of Leukocyte Function.
93: Genetic Disorders of the Pituitary Gland.
94: Thyroid Disorders.
95: Parathyroid Disorders.
96: Diabetes Mellitus.
97: Genetic Disorders of the Adrenal Gland.
98: Disorders of the Gonads, Genital Tract, and Genitalia.
99: Cancer of the Breast and Female Reproductive Tract.
100: Metabolic Disorders.
101: Disorders of the Body Mass.
102: Genetic Lipodystrophies.
103: Amino Acid Metabolism.
104: Disorders of Carbohydrate Metabolism.
105: Congenital Disorders of Protein Glycosylation.
106: Purine and Pyrimidine Metabolism.
107: Lipoprotein and Lipid Metabolism.
108: Organic Acidemias and Disorders of Fatty Acid Oxidation.
109: Vitamin D Metabolism or Action.
110: Inherited Porphyrias.
111: Inherited Disorders of Human Copper Metabolism.
112: Iron Metabolism and Related Disorders.
114: Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses.
115: Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis).
116: Peroxisomal Disorders.
117: Mental and Behavioral Disorders.
118: The Genetics of Personality.
119: Fragile X Syndrome and X-Linked Intellectual Disability.
120: Dyslexia and Related Communication Disorders.
121: Attention-Deficit/Hyperactivity Disorder.
122: Autism Spectrum Disorders.
123: Genetics of Alzheimer Disease.
124: Schizophrenia and Affective Disorders.
125: Addictive Disorders.
126: Neurologic Disorders.
127: Neural Tube Defects.
128: Genetic Disorders of Cerebral Cortical Development.
129: Genetic Aspects of Human Epilepsy.
130: Basal Ganglia Disorders.
131: The Hereditary Ataxias.
132: Hereditary Spastic Paraplegia.
133: Autonomic and Sensory Disorders.
134: The Phakomatoses.
135: Multiple Sclerosis and Other Demyelinating Disorders.
136: Genetics of Stroke.
137: Primary Tumors of the Nervous System.
138: Neuromuscular Disorders.
139: Muscular Dystrophies.
140: Hereditary Motor and Sensory Neuropathies.
141: Congenital (Structural) Myopathies.
142: Spinal Muscular Atrophies.
143: Hereditary Muscle Channelopathies.
144: The Myotonic Dystrophies.
145: Hereditary and Autoimmune Myasthenias.
146: Motor Neuron Disease.
147: Ophthalmologic Disorders.
148: Genetics of Color Vision Defects.
149: Optic Atrophy.
151: Defects of the Cornea.
152: Congenital Cataracts and Genetic Anomalies of the Lens.
153: Hereditary Retinal and Choroidal Dystrophies.
155: Retinoblastoma and the RB1 Cancer Syndrome.
156: Anophthalmia, Microphthalmia, and Uveal Coloboma.
158: Hereditary Hearing Impairment.
159: Craniofacial Disorders.
160: Clefting, Dental, and Craniofacial Syndromes.
162: Dermatologic Disorders.
163: Abnormalities of Pigmentation.
164: Ichthyosiform Dermatoses.
165: Epidermolysis Bullosa.
166: Ectodermal Dysplasias.
167: Skin Cancer.
169: Cutaneous Hamartoneoplastic Disorders.
170: Inherited Disorders of the Hair.
171: Connective Tissue Disorders.
172: Marfan Syndrome and Related Disorders.
173: Ehlers–Danlos Syndrome.
174: Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders.
175: Skeletal Disorders.
176: Osteogenesis Imperfecta (and Other Disorders of Bone Matrix).
177: Disorders of Bone Density, Volume, and Mineralization.
179: Abnormalities of Bone Structure.
180: Arthrogryposes (Multiple Congenital Contractures).
181: Common Skeletal Deformities.
182: Hereditary Noninflammatory Arthropathies.
185: Genes and Mechanisms in Human Ciliopathies.