Emery and Rimoin

Emery and Rimoin's Principles and Practice of Medical Genetics e-dition

Continually Updated Online Reference, 3-Volume Set

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.

Hardbound, 3637 Pages

Published: December 2006

Imprint: Churchill Livingstone

ISBN: 978-0-443-06870-6

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

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