Screen LibraryEmery and Rimoin's principles and practice of medical genetics /
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...
Saved in:
| Corporate Authors: | |
|---|---|
| Group Author: | ; ; ; |
| Published: |
Elsevier Science,
|
| Publisher Address: | San Diego : |
| Publication Dates: | 2013. |
| Literature type: | eBook |
| Language: | English |
| Edition: | [6th ed.]. |
| Subjects: | |
| Online Access: |
http://www.sciencedirect.com/science/book/9780123838346 |
| Summary: |
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. |
| Carrier Form: | 1 online resource (various pagings) : illustrations |
| Bibliography: | Includes bibliographical references. |
| ISBN: |
9780123838353 0123838355 |
| Index Number: | RB155 |
| CLC: | R394 |
| Contents: |
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 Hemorrh 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 Por 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 RB 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: |