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| EMERY AND RIMOIN'S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS E-DITION
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Continually Updated Online Reference, 3-Volume Set
To order this title, and for more information, click here
Fifth Edition
By
David Rimoin, MD, PhD, Chairman of the Department of Pediatrics, Director of the Medical Genetics Institute, Steven Spielberg Family Chair in Pediatrics,
Cedars-Sinai Medical Center; Professor of Pediatrics and Medicine, Vice Chairman of the Department of Pediatrics, Program Director of
the Intercampus Medical Genetics Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles,
CA, US
J. Michael Connor, MD, DSc, Professor and Head of Department, Institute of Medical Genetics, Glasgow, UK
Reed Pyeritz, MD, PhD, Professor of Medicine & Genetics; Chief, Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA, US
Bruce Korf, MD, PhD, Chair of Medical Genetics, Department of Human Genetics, University of Alabama at Birmingham, Birmingham, AL, US
Description
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.
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
| Bibliographic details |
Hardbound, 3637 pages, publication date: DEC-2006
ISBN-13: 978-0-443-06870-6
ISBN-10: 0-443-06870-4
Imprint: CHURCHILL LIVINGSTONE
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999/999
Last update: 10 Sep 2009
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