Emery and Rimoin's Essential Medical Genetics, 1st Edition

  • Published By:
  • ISBN-10: 0124169821
  • ISBN-13: 9780124169821
  • DDC: 616.042
  • Grade Level Range: College Freshman - College Senior
  • 646 Pages | eBook
  • Original Copyright 2013 | Published/Released February 2014
  • This publication's content originally published in print form: 2013

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For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the sixth edition, and featuring 174 original contributions from the many authors of the full set, this one volume work expertly condenses and synthesizes the most clinically relevant content, for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease.

Table of Contents

Front Cover.
Half Title Page.
Title Page.
Copyright 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.
7: Epigenetics.
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.
59: Preeclampsia.
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.
113: Mucopolysaccharidoses.
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.
150: Glaucoma.
151: Defects of the Cornea.
152: Congenital Cataracts and Genetic Anomalies of the Lens.
153: Hereditary Retinal and Choroidal Dystrophies.
154: Strabismus.
155: Retinoblastoma and the RB1 Cancer Syndrome.
156: Anophthalmia, Microphthalmia, and Uveal Coloboma.
157: Deafness.
158: Hereditary Hearing Impairment.
159: Craniofacial Disorders.
160: Clefting, Dental, and Craniofacial Syndromes.
161: Craniosynostosis.
162: Dermatologic Disorders.
163: Abnormalities of Pigmentation.
164: Ichthyosiform Dermatoses.
165: Epidermolysis Bullosa.
166: Ectodermal Dysplasias.
167: Skin Cancer.
168: Psoriasis.
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.
178: Chondrodysplasias.
179: Abnormalities of Bone Structure.
180: Arthrogryposes (Multiple Congenital Contractures).
181: Common Skeletal Deformities.
182: Hereditary Noninflammatory Arthropathies.
183: Pathways.
184: Pathways—Cohesinopathies.
185: Genes and Mechanisms in Human Ciliopathies.