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Developed in parallel to the 6th edition of Emery and Rimoin's Principles and Practice of Medical Genetics, and featuring 174 original contributions from the many authors of the full set, the new, one-volume Emery and Rimoin's Essential Medical Genetics expertly condenses and synthesizes the most clinically-relevant content, for convenient desk reference for individuals. 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.
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Principles and Practice of Medical Genetics, By David Rimoin, Reed Pyeritz, Bruce Korf


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

By David Rimoin, Reed Pyeritz, Bruce Korf

 

KEY FEATURES


  • Features 174 summarized contributions concisely discussing advances in cancer genetics, genomic technologies, and molecular genetics
  • Contains hundreds of full color illustrations supporting users with identification, concept illustration, and method processing

 

 



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  Table of Contents
VOLUME I



BASIC PRINCIPLES

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

GENERAL PRINCIPLES

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

CHROMOSOMAL DISORDERS

44 Down Syndrome and other Autosomal Trisomies
45 Sex Chromosome Abnormalities
46 Deletions and Other Structural Abnormalities of the Autosomes

CARDIOVASCULAR DISORDERS

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

VOLUME II

RESPIRATORY DISORDERS

55 Cystic Fibrosis
56 Asthma
57 Hereditary Pulmonary Emphysema
58 Interstitial and Restrictive Pulmonary Disorders

RENAL 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

GASTROINTESTINAL DISORDERS

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

HEMATOLOGIC DISORDERS

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

IMMUNOLOGIC 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

ENDOCRINOLOGIC DISORDERS

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

METABOLIC DISORDERS

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



VOLUME III


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

NEUROLOGIC 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

NEUROMUSCULAR DISORDERS

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

OPHTHALMOLOGIC DISORDERS

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

DEAFNESS

140 Hereditary hearing impairment

CRANIOFACIAL DISORDERS

141 Craniosynostosis
142 Craniofacial Disorders

DERMATOLOGIC 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

SKELETAL 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


INDEX