Emery and Rimoin's Essential Medical Genetics


For decades, Emeryand 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...

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Emery and Rimoin's Essential Medical Genetics

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For decades, Emeryand 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 inencompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported byconcisedescriptions of theprinciples 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.

This print volume is complemented and enhanced with online access to the complete text, online-only references, and high quality illustrations on www.expertconsult.com.

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Editorial Reviews

From the Publisher

"The late Rimoin, Pyeritz, and Korf present 163 brief chapters that summarize chapters from Emery and Rimoin's Principles and Practice of Medical Genetics, for students, researchers, and practitioners…This edition has new chapters and includes common disorders not traditionally viewed as genetic."--Reference and Research Book News, August 2013

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Product Details

  • ISBN-13: 9780124072404
  • Publisher: Elsevier Science
  • Publication date: 6/24/2013
  • Pages: 646
  • Product dimensions: 8.80 (w) x 11.10 (h) x 1.10 (d)

Table of Contents

History of Medical Genetics; Medicine in a Genetic Context; Nature and Frequency of Genetic Disease; Genomics and Proteomics; Genome Structure and Gene Expression; Epigenetics; Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences; Mendelian Inheritance Analysis of Genetic Linkage; Chromosomal Basis of Inheritance; Mitochondrial Genes in Degenerative Diseases, Cancer and Aging; Multifactoral Inheritance and Complex Traits; Population Genetics; Pathogenetics of Disease; Genetic Epidemiology; Human Developmental Genetics; Twins and Twinning; The Molecular Biology of Cancer; The Biologic Basis of Aging: Implications for Medical Genetics; Pharmacogenetics and Pharmacogenomics; Bioinformatics; Genetic Risk Assessment for Common Disease; 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; Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease; Gene Therapy; Ethical and Social Issues in Clinical Genetics; Legal Issues in Genetics in Medicine; The Genetic Basis of Female Infertility; Male Infertility; Fetal Loss; Genetic Disorders of Prematurity; A Clinical Approach to the Dysmorphic Child; Clinical Teratology; Abnormal Mental Development; Abnormal Body Size and Proportion Susceptibility and Response to Infection; Transplantation Genetics; Down Syndrome and other Autosomal Trisomies; Sex Chromosome Abnormalities; Deletions and Other Structural Abnormalities of the Autosomes; Congenital Heart Disease; Cardiomyopathies; Pulmonary Arterial Hypertension; Hereditary Hemorrhagic Telangiectasia; Cutaneous Hamartoneoplastic Disorders; Disorders of the Venous System; Capillary Malformation / Arteriovenous Malformation; Hereditary Disorders or the Lymphatic System; Familial Dysrhythmias and Conduction Disorders; Molecular Basis of Human Hypertension; Preclampsia; Common Genetic Determinants of Coagulation and Fibronolysis; Genetics of Atherosclerotic Cardiovascular Disease; Cystic Fibrosis; Asthma; Hereditary Pulmonary Emphysema; Interstitial and Restrictive Pulmonary Disorders; Congenital Anomalies of the Kidney and Urinary Tract (CAKUT); Cystic Diseases of the Kidney; Nephrotic Disorders; Renal Tubular Disorders; Cancer of the Kidney and Urogenital Tract; Gastrointestinal Tract and Hepatobiliary Duct System; In?ammatory 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; Autoimmunity: Genetics and Immunological Mechanisms; Systemic Lupus Erythematosus; Rheumatoid Disease and Other In?ammatory Arthropathies; Amyloidosis and Other Protein Deposition Diseases; Immunode?ciency Disorders; Complement Defects; 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 ActionInherited Porphyrias; Copper Metabolism; Iron Metabolism and Related Disorders; Mucopolysaccharidoses; Disorders of DNA Repair and Metabolism; Oligosaccharidoses and Allied Disorders; Gangliosidoses and Related Lipid Storage Diseases; Peroxisomal Disorders; Genetics of Personality; Fragile X Syndrome and Other Causes of X-linked Mental Handicap; Dyslexia and Other Speci?c Learning Disorders; Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders; Autism & Autism Spectrum Alzheimer Disease and Other Dementias; Shizophrenia and Affective Disorders; Addictive Disorders; Neural Tube Defects Genetic Disorders of Cerebral Cortical Development; The Epilepsies; Basal Ganglia Disorders; The Hereditary Ataxias; Sleep Disorders; Hereditary Spastic Paraplegia; Autonomic and Sensory Disorders; The Phakomatoses; Multiple Sclerosis and Other Demyelinating Disorders; Cerebrovascular Disorders; Primary Tumors of the Nervous System; The muscular dystrophies; Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies; Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses; Myotonic Dystrophy; Hereditary and Autoimmune Myasthenias; Motor Neurone Disease; Color Vision Defects; Optic Atrophy and Congenital Blindness; Glaucoma; Defects of the Cornea; Anomalies of the Lens; Hereditary Retinal and Choroidal Degenerations; Strabismus; Retinoblastoma; Disorders of the Hair; Hereditary hearing impairment; Clefting/Craniofacial Syndromes/DentalCraniosynostosis; Abnormalities of Pigmentation; Ichthyosiform Dermatoses; Epidermolysis Bullosa; Ectodermal Dysplasias; Psoriasis and Related Disorders; Skin Cancer; Marfan Syndrome and Other Disorders of Fibrillin; Ehlers-Danlos Syndrome; Heritable Diseases Affecting the Elastic Tissues: 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 Nonin?ammatory Arthropathies; Pathways-Cohesinopathies; Ciliopathies

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