Emery and Rimoin's principles and practice of medical genetics [recurso electrónico] / edited by David L. Rimoin, Reed E. Pyeritz and Bruce Korf.

Includes bibliographical references.

History of Medical Genetics -- Medicine in a Genetic Context -- Nature and Frequency of Genetic Disease -- Genomics and Proteomics -- Genome and Gene Structure -- Epigenetics -- Human Gene Mutation in Inherited Disease -- Genes in Families -- Analysis of Genetic Linkage -- Chromosomal Basis of Inheritance -- Mitochondrial Medicine: The Mitochondrial Biology and Genetics of Metabolic and Degenerative Diseases, Cancer, and Aging -- Multifactorial Inheritance and Complex Diseases -- Population Genetics -- Pathogenetics of Disease -- Human Developmental Genetics -- Twins and Twinning -- The Molecular Biology of Cancer -- The Biological Basis of Aging: Implications for Medical Genetics -- Pharmacogenetics and Pharmacogenomics -- Genetic Evaluation for Common Diseases of Adulthood -- Genetic Counseling and Clinical Risk Assessment -- Cytogenetic Analysis -- Diagnostic Molecular Genetics -- Heterozygote Testing and Carrier Screening -- Prenatal Screening for Neural Tube Defects and Aneuploidy -- Techniques for Prenatal Diagnosis -- Neonatal Screening -- Therapies for Lysosomal Storage Diseases -- Gene Therapy: From Theoretical Potential to Clinical Implementation -- Ethical and Social Issues in Clinical Genetics -- Legal Issues in Genetic Medicine -- Genetics of Female Infertility in Humans -- Genetics of Male Infertility -- Fetal Loss -- A Clinical Approach to the Dysmorphic Child -- Clinical Teratology -- Neurodevelopmental Disabilities: Global Developmental Delay, Intellectual Disability, and Autism -- Abnormal Body Size and Proportion -- Susceptibility and Response to Infection -- Transplantation Genetics -- The Genetics of Disorders Affecting the Premature Newborn -- Disorders of DNA Repair and Metabolism -- Autosomal Trisomies -- Sex-Chromosome Abnormalities -- Deletions and Other Structural Abnormalities of the Autosomes Congenital Heart Defects -- Inherited Cardiomyopathies -- Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension -- Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) -- Hereditary Disorders of the Lymphatic System and Varicose Veins --

The Genetics of Cardiac Electrophysiology in Humans -- Genetics of Blood Pressure Regulation -- Preeclampsia -- Common Genetic Determinants of Coagulation and Fibrinolysis -- Genetics of Atherosclerotic Cardiovascular Disease -- Disorders of the Venous System -- Capillary Malformation/Arteriovenous Malformation -- Cystic Fibrosis -- Genetic Underpinnings of Asthma and Related Traits -- Hereditary Pulmonary Emphysema -- Interstitial and Restrictive Pulmonary Disorders -- Congenital Anomalies of the Kidney and Urinary Tract -- Cystic Diseases of the Kidney -- Nephrotic Disorders -- Renal Tubular Disorders -- Cancer of the Kidney and Urogenital Tract -- Gastrointestinal Tract and Hepatobiliary Duct System -- Inflammatory Bowel Disease -- Bile Pigment Metabolism and Its Disorders -- Cancer of the Colon and Gastrointestinal Tract -- Hemoglobinopathies and Thalassemias -- Other Hereditary Red Blood Cell Disorders -- Hemophilias and Other Disorders of Hemostasis -- Rhesus and Other Fetomaternal Incompatibilities -- Leukemias, Lymphomas, and Other Related Disorders -- Immunologic Disorders: Genetics and Immunologic Mechanisms -- Systemic Lupus Erythematosus -- Rheumatoid Disease and Other Inflammatory Arthropathies -- Amyloidosis and Other Protein Deposition Diseases -- Immunodeficiency Disorders -- Inherited Complement Deficiencies -- Disorders of Leukocyte Function -- Genetic Disorders of the Pituitary Gland -- Thyroid Disorders -- Parathyroid Disorders -- Diabetes Mellitus -- Genetic Disorders of the Adrenal Gland -- Disorders of the Gonads, Genital Tract, and Genitalia -- Cancer of the Breast and Female Reproductive Tract -- Disorders of the Body Mass -- Genetic Lipodystrophies -- Amino Acid Metabolism -- Disorders of Carbohydrate Metabolism -- Congenital Disorders of Protein Glycosylation -- Purine and Pyrimidine Metabolism -- Lipoprotein and Lipid Metabolism -- Organic Acidemias and Disorders of Fatty Acid Oxidation -- Vitamin D Metabolism or Action -- Inherited Porphyrias -- Inherited Disorders of Human Copper Metabolism --

Iron Metabolism and Related Disorders -- Mucopolysaccharidoses -- Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses -- Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesteryl Ester Storage Disease, and Cerebrotendinous Xanthomatosis) -- Peroxisomal Disorders -- The Genetics of Personality -- Fragile X Syndrome and X-linked Intellectual Disability -- Dyslexia and Related Communication Disorders -- Attention-Deficit/Hyperactivity Disorder -- Autism Spectrum Disorders -- Genetics of Alzheimer Disease -- Schizophrenia and Affective Disorders -- Addictive Disorders -- Neural Tube Defects -- Genetic Disorders of Cerebral Cortical Development -- Genetic Aspects of Human Epilepsy -- Basal Ganglia Disorders -- The Hereditary Ataxias -- Hereditary Spastic Paraplegia -- Autonomic and Sensory Disorders -- The Phakomatoses -- Multiple Sclerosis and Other Demyelinating Disorders -- Genetics of Stroke -- Primary Tumors of the Nervous System -- Muscular Dystrophies -- Hereditary Motor and Sensory Neuropathies -- Congenital (Structural) Myopathies -- Spinal Muscular Atrophies -- Hereditary Muscle Channelopathies -- Myotonic Dystrophies -- Hereditary and Autoimmune Myasthenias -- Motor Neuron Disease -- Color Vision Defects -- Optic Atrophy -- Glaucoma -- Defects of the Cornea -- Congenital Cataracts and Genetic Anomalies of the Lens -- Hereditary Retinal and Choroidal Dystrophies -- Strabismus -- Retinoblastoma and the RB₁ Cancer Syndrome -- Anophthalmia, Microphthalmia, and Uveal Coloboma -- Hereditary Hearing Impairment -- Clefting, Dental, and Craniofacial Syndromes -- Craniosynostosis -- Abnormalities of Pigmentation -- Ichthyosiform Dermatoses -- Epidermolysis Bullosa -- Ectodermal Dysplasias -- Skin Cancer -- Psoriasis -- Cutaneous Hamartoneoplastic Disorders -- Inherited Disorders of the Hair -- Marfan Syndrome and Related Disorders -- Ehlers-Danlos Syndrome -- Heritable Diseases Affecting the Elastic Fibers: Cutis Laxa, Pseudoxanthoma Elasticum, and Related Disorders -- Osteogenesis Imperfecta (and Other Disorders of Bone Matrix) -- Disorders of Bone Density, Volume, and Mineralization -- Chondrodysplasias -- Abnormalities of Bone Structure -- The Dysostoses -- Arthrogryposes (Multiple Congenital Contractures) -- Common Skeletal Deformities -- Hereditary Noninflammatory Arthropathies -- Pathways-Cohesinopathies -- Genes and Mechanisms in Human Ciliopathies.

For decades, Emery & 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. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders.

Description based on print version record.

19