Emery And Rimoin's Principles And Practice Of Medical Genetics E-dition: Continually Updated Online Reference, 3-volume Set (principles And Practice Of Medical Genetics (emery & Rimoin)).

Emery And Rimoin's Principles And Practice Of Medical Genetics E-dition: Continually Updated Online Reference, 3-volume Set (principles And Practice Of Medical Genetics (emery & Rimoin))

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  • SHUB4093
  • ISBN details

    • ISBN 10: 0443068704
    • ISBN 13: 9780443068706


    Overview

    For Decades, Emery And 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 6e 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. Clinically Oriented Information Is Supported By Expanded Sections On Basic Principles 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. Over 250 Of The World's Most Trusted Authorities In Medical Genetics Will Contribute To The New Release Of The Revised Electronic Edition Of The Work. Regular Updates And The Integration Of Teaching Tools Such As Videos And Graphics Will Distinguish This Work From The Competition. Links To Sites Such As Online Mendelian Inheritance In Man (omim) And Similar Sites That Provide Up-to-date Information On Human Genes And Genetic Phenotypes Will Make This Product The Ultimate Source For Students, Researchers, And Practitioners Alike.--publisher's Website. V. 1 -- History Of Medical Genetics -- Medicine In A Genetic Context -- Nature And Frequency Of Genetic Disease -- Genomics And Proteomics -- Genome Structure And Gene Expression -- Epigenetics -- Mutations In Human Genetic Disease: Nature And Consequences -- Mendelian Inheritance -- Segregation Analysis -- Analysis Of Genetic Linkage -- Chromosomal Basis Of Inheritance -- The Morbid Anatomy Of The Human Genome: A Chromosome-by-chromosome Synopsis Of Disease-related Genes And Genetic Loci -- Mitochondrial Genes In Degenerative Diseases, Cancer, And Aging -- Multifactorial Inheritance And Complex Diseases -- Population Genetics -- Pathogenetics Of Disease -- Genetic Epidemiology -- Human Developmental Genetics -- Human Malformations -- Twins And Twinning -- The Molecular Biology Of Cancer -- The Biological Basis Of Aging Implications For Medical Genetics -- Pharmacogenetics And Pharmacogenomics -- Forensic Genetics -- Genetic Assessment And Pedigree Analysis -- Bioinformatics --^ Genetic Risk Assessment For Common Disease -- Risk Estimation In Genetic Counseling -- Cytogenetic Analysis -- Diagnostic Molecular Genetics -- Heterozygote Testing And Carrier Screening -- Prenatal Screening For Neural Tube Defects And Aneuploidy -- Techniques For Prenatal Diagnosis -- Neonatal Screening -- Genetic Counseling -- Enzyme Replacement And Pharmacologic Chaperone Therapies For Lysosomal Storage Diseases -- Gene Therapy: From Visionary Insights To Clinical Trials: A Brain's Eye View -- Ethical And Social Issues In Clinical Genetics -- Legal Issues In Genetic Medicine -- The Genetic Basis Of Human Female Infertility -- Male Infertility -- Fetal Loss -- A Clinical Approach To The Dysmorphic Child -- Clinical Teratology -- Abnormal Mental Development -- Abnormal Body Size And Proportion -- Susceptibility And Response To Infection -- Transplantation Genetics -- Clinical Genetics Of Common Autosomal Trisomies -- Sex Chromosome Abnormalities --^ Deletions And Other Structural Abnormalities Of The Autosomes. V. 2 -- Congenital Heart Disease -- Inherited Cardiomyopathies -- Primary Pulmonary Hypertension: Familial Pulmonary Arterial Hypertension And Idiopathic Pulmonary Arterial Hypertension -- Hereditary Hemorrhagic Telangiectasia (osler-weber-rendu Syndrome) -- Hereditary Disorders Of The Lymphatic And Venous Systems -- Familial Dysrhythmias And Conduction Disorders -- Molecular Basis Of Human Hypertension -- Preeclampsia -- Common Genetic Determinants Of Coagulation And Fibrinolysis -- Genetic Determinants Of Atherosclerotic Diseases -- Cystic Fibrosis -- Asthma -- Hereditary Pulmonary Emphysema -- Interstitial And Restrictive Pulmonary Disorders -- Congenital Disorders Of The 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 -- Autoimmunity: Genetics And Immunologic Mechanisms -- Systemic Lupus Erythematosus -- Rheumatoid Disease And Other Inflammatory Arthropathies -- Amyloidosis And Other Protein Deposition Diseases -- Immunodeficiency 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. V. 3 -- Disorders Of Fatty Acid Transport And Mitochondrial Oxidation -- Organic Acidemias And Disorders Of Fatty Acid Oxidation -- Vitamin D Metabolism Or Action -- Inherited Porphyrias -- Copper Metabolism -- Iron Metabolism And Related Disorders -- Mucopolysaccharidoses -- Oligosaccharidoses, Disorders Allied To The Oligosaccharides -- Sphingolipid Disorders And The Neuronal Ceroid Lipofuscinoses Or Batten Disease (wolman Disease, Cholestrylester Storage Disease, And Cerebrotendinous Xanthomatosis) -- Peroxisomal Disorders -- The Genetics Of Personality -- Fragile X Syndrome And Other Causes Of X-linked Mental Handicap -- Dyslexia And Related Learning Disorders -- Attention Deficit Hyperactivity Disorder -- Autism Spectrum Disorders (including Rett Syndrome) -- Genetics Of Alzheimer Disease -- Schizophrenia -- Major Mood Disorders -- Addictive Disorders -- Neural Tube Defects -- Genetic Disorders Of Cerebral Cortical Development -- Genetic Aspects Of Human Epilepsy --^ Basal Ganglia Disorders -- Genetics Of Tic Disorders -- The Hereditary Ataxias -- Hereditary Spastic Paraplegia -- Autonomic And Sensory Disorders -- The Phakomatoses -- Multiple Sclerosis -- Cerebrovascular Disorders -- Primary Tumors Of The Nervous System -- Congenital Muscular Dystrophies -- Duchenne And Other X-linked Muscular Dystrophies -- Autosomally Inherited Muscular Dystrophies -- Hereditary Motor And Sensory Neuropathies -- Congenital (structural) Myopathies -- Spinal Muscular Atrophies -- Nondystrophic Myotonias And Periodic Paralyses -- Myotonic Dystrophies -- Hereditary And Autoimmune Myasthenias -- Motor Neuron 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 And The Rb1 Cancer Syndrome -- Hereditary Hearing Loss And Deafness -- Craniofacial Disorders -- Clefting, Dental, And Craniofacial Syndromes --^ Craniosynostosis -- Abnormalities Of Pigmentation -- Ichthyosiform Dermatoses -- Epidermolysis Bullosa -- Ectodermal Dysplasias -- Other Genetic Disorders Of The Skin -- Skin Cancer -- Marfan Syndrome And Related Disorders -- Ehlers-danlos Syndrome -- Heritable Diseases Affecting The Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum, And Related Disorders -- Disorders Predisposing To Bone Fragility And Decreased Bone Density -- Disorders With Increased Bone Density, Volume, And Mineralization -- Chondrodysplasias -- Abnormalities Of Bone Structure -- The Dysostoes -- Arthrogryposes (multiple Congenital Contractures) -- Common Skeletal Deformities -- Hereditary Noninflammatory Arthropathies. Rev. Ed. Of: Emery & Rimoin's Principles And Practice Of Medical Genetics. 4th Ed. / Edited By David L. Rimoin ... [et Al.]. 2002. Includes Bibliographical References And Index. Also Available In An Electronic Version. Mode Of Access: World Wide Web.

    Other Details

    • Publisher: Churchill Livingstone
    • Language: En
    • Format: print
    • Edition: 5
    • Dimensions: 3 v. (p. xxxix, 3871, xcix p., [30] p. of plates) : ill. (some col.) ; 29 cm. + 1 user guide (16 p. ; 17 cm.)
    • Pages: 3637
    • Date Published: 2007
    • Authors: Rimoin, David L., Connor Md Dsc, J. Michael, Pyeritz, Reed E., Korf, Bruce R.