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E-RESOURCE

Title Clinical genomics [electronic resource] : practical applications in adult patient care / Michael F Murray, Mark W Babyatsky, Monica A Giovanni, Fowzan S Alkuraya, Douglas R Stewart.

Published New York, N.Y. : McGraw-Hill Education LLC., c2014.

Copies

Location Call No. Status
 UniM INTERNET resource    AVAILABLE
Edition 1st ed.
Physical description xxx, 928 p. : ill., figs., tables; 28 cm.
Series McGraw-Hill's AccessMedicine
McGraw-Hill's AccessMedicine.
Bibliography Includes bibliographical references and indexes.
Contents 99: Recurrent Pregnancy Loss -- 100: Folate and Neural Tube Defects -- 101: Liver Disease in Pregnancy -- 102: Pre-eclampsia -- Section XII: Gynecology -- 103: Genetic Basis of Female Infertility -- 104: Polycystic Ovary Syndrome -- 105: Uterine Leiomyomata -- Section XIII: Dermatology -- 106: Psoriasis and Psoriatic Arthritis -- 107: Hereditary Melanoma and Other High-Risk Skin Cancer Susceptibility Syndromes -- 108: Neurofibromatosis Type 1 -- 109: Tuberous Sclerosis Complex -- 110: Epidermolysis Bullosa -- 111: Atopic Dermatitis -- 112: Graft-Versus-Host Disease -- 113: Nevoid Basal Cell Carcinoma Syndrome -- Section XIV: Pulmonology -- 114: Cystic Fibrosis -- 115: Alpha-1 Antitrypsin Deficiency -- 116: Asthma -- 117: Sarcoidosis -- 118: Idiopathic Pulmonary Fibrosis -- 119: Obstructive Sleep Apnea Syndrome -- 120: Pulmonary Arterial Hypertension -- Section XV: Neurology -- 121: Epilepsy -- 122: Autism Spectrum Disorders -- 123: Frontotemporal Lobar Degeneration -- 124: Alzheimer Disease -- 125: Huntington Disease -- 126: Parkinson Disease -- 127: Multiple Sclerosis -- 128: Ataxia-Telangiectasia -- 129: von Hippel-Lindau Syndrome -- 130: Amyotrophic Lateral Sclerosis -- 131: Myotonic Dystrophy Type 1 -- 132: Charcot-Marie-Tooth Disease -- 133: Genetic Prion Disease -- 134: The Hereditary Spastic Paraplegias -- 135: Dystrophinopathies -- Section XVI: Psychiatry -- 136: Depression -- 137: Bipolar Mood Disorder -- 138: Schizophrenia -- 139: Genetics of Drug Addiction -- 140: Nicotine Dependence -- Section XVII: Rheumatology -- 141: Spondyloarthropathies -- 142: Systemic Lupus Erythematosus -- 143: Articular Chondrocalcinosis -- Section XVIII: Nephrology -- 144: Cystic Diseases of the Kidney, Polycystic Kidney Disease -- 145: Nephrolithiasis -- 146: Alport Syndrome -- Section XIX: Ophthalmology -- 147: Age-related Cataract -- 148: Primary Open Angle Glaucoma -- 149: Age-Related Macular Degeneration -- 150: Retinitis Pigmentosa -- Section XX: Otolaryngology -- 151: Nonsyndromic Sensorineural Hearing Loss -- 152: Syndromic Hearing Loss -- 153: Waardenburg Syndrome -- 154: Vestibular Schwannoma and Neurofibromatosis 2 -- Section XXI: Multisystem Disease -- 155: Achondroplasia -- 156: Malignant Hyperthermia -- 157: Noonan Syndrome and Related Disorders -- 158: Hereditary Hemorrhagic Telangiectasia -- 159: Fragile X Syndrome and Related Conditions -- 160: Werner Syndrome -- 161: Prader-Willi and Angelman Syndromes: Examples of Genomic Imprinting -- 162: Down Syndrome -- 163: Turner Syndrome -- 164: Klinefelter Syndrome and Related Sex Chromosome Aneuploidies -- 165: The 22q11.2 Deletion Syndrome -- 166: Mitochondrial Disorders in Adult Patients -- 167: Chromosomal Disorders in Adults -- 168: Hereditary Disorders of Connective Tissue -- 169: Ehlers-Danlos Syndrome, Hypermobility and Classical Type -- Section XXII: Appendix -- 170: Clinical Implications of Copy Number Variation in the Human Genome -- 171: Genetic Privacy -- 172: Race, Ancestry, and Genomics -- 173: Population Genetics -- 174: Transplantation Genetics and Genomics: Alloreactivity After Hematopoietic Stem Cell Transplantation -- 175: Personalized Medicine in Clinical Practice -- 176: Genomics and Evidence-Based Medicine -- 177: MicroRNA in Cancer -- 178: Genetic Syndromes of Childhood in Adults -- 179: Clinical Interpretation of Genomic Data -- 180: Genetic Risk Profiling in the Genomics Era -- 181: Epigenetics and Clinical Medicine -- 182: The Clinical Potential of Stem Cells in Reproductive Medicine -- 183: Effectively Integrating Genomic Clinical Decision Support into the EHR -- 184: Genetic Assessment at the End of Life.
Section I: Concepts and Strategies -- 1: Clinical Genomics—an Introduction -- 2: Primary Care and Genomics -- Section II: Pharmacogenetics -- 3: Pharmacogenomic Information in Drug Labeling -- 4: Common Cytochrome P450 Polymorphisms and Pharmacogenetics -- 5: Thiopurine Methyltransferase Pharmacogenetics -- 6: Pharmacogenetics of Warfarin -- 7: Clopidogrel Pharmacogenomics -- 8: Tamoxifen Pharmacogenetics -- 9: Statin-Induced Neuromyopathy -- 10: Abacavir Pharmacogenomics -- Section III: Cardiovascular Disease -- 11: Coronary Artery Disease -- 12: Metabolic Syndrome -- 13: Dyslipidemia -- 14: Hypertriglyceridemia -- 15: Familial Hypercholesterolemia -- 16: Hypertension -- 17: Stroke and Cerebrovascular Disease -- 18: Thrombophilia -- 19: Pulmonary Embolism and Deep Vein Thrombosis -- 20: Arrhythmogenic Right Ventricular Cardiomyopathy -- 21: Atrial Fibrillation -- 22: Brugada Syndrome and Related Cardiac Diseases -- 23: Long QT Syndrome -- 24: Dilated Cardiomyopathy -- 25: Hypertrophic Cardiomyopathy -- 26: Bicuspid Aortic Valve Disease -- 27: Thoracic Aortic Aneurysms and Acute Aortic Dissections -- 28: Marfan Syndrome -- 29: Loeys-Dietz Syndrome -- 30: Abdominal Aortic Aneurysm -- Section IV: Hematology -- 31: Sickle Cell Anemia -- 32: Hemophilia -- 33: Aplastic Anemia, Bone Marrow Failure Syndromes -- 34: Myeloproliferative Disorders -- 35: The Myelodysplastic Syndrome -- 36: Acute Myeloid Leukemia -- 37: Multiple Myeloma and Other Plasma Cell Disorders -- 38: Alpha-Thalassemia -- 39: Genetic Platelet Disorders -- Section V: Oncology -- 40: Familial Cancer Syndromes -- 41: Central Nervous System Tumors -- 42: Esophageal Cancers -- 43: Lung Cancer -- 44: Cancers of the Small and Large Intestine -- 45: Pancreatic Cancer -- 46: Pancreatic Neuroendocrine Tumors -- 47: Hereditary Pheochromocytoma and Paraganglioma -- 48: Prostate Cancer -- 49: Testicular Germ Cell Tumors -- 50: Renal Cell Carcinoma -- 51: PTEN Syndromes -- 52: Hereditary Breast and Ovarian Cancer -- Section VI: Endocrinology -- 53: Obesity -- 54: Diabetes Mellitus Type 1 -- 55: Diabetes Mellitus Type 2 -- 56: Maturity-Onset Diabetes of the Young -- 57: Hypoglycemia -- 58: Multiple Endocrine Neoplasia Type 1 -- 59: Multiple Endocrine Neoplasia Type 2 -- 60: Autoimmune Thyroid Diseases -- 61: Adrenal Insufficiency -- 62: Pituitary Tumors and Syndromes -- 63: Disorders of Sexual Differentiation -- 64: Congenital Adrenal Hyperplasia -- 65: Osteopenia and Osteoporosis -- 66: Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism Type 1 -- 67: Hypogonadotropic Hypogonadism -- Section VII: Gastroenterology -- 68: Celiac Disease -- 69: Acute and Chronic Pancreatitis -- 70: Inflammatory Bowel Disease -- 71: Genetics of Constipation and Hirschsprung Disease -- 72: The Hereditary Hemochromatoses -- 73: Wilson Disease -- 74: Gilbert Syndrome -- 75: Nonalcoholic Fatty Liver Disease -- 76: Gallstone Disease -- 77: Familial Autoinflammatory Diseases -- Section VIII: Immunology -- 77: Familial Autoinflammatory Diseases -- 78: Common Variable Immune Deficiency -- 79: Hereditary Angioedema -- 80: Deficiency of Components of the Complement System -- 81: Hemolytic Uremic Syndrome -- Section IX: Infectious Disease -- 82: Tuberculosis -- 83: Malaria -- 84: Genetics of HIV -- 85: Hepatitis B and Hepatitis C Infection -- 86: Bronchitis and Pneumonia -- Section X: Metabolic Disease -- 87: Gaucher Disease -- 88: Fabry Disease -- 89: The Porphyrias -- 90: Hyperhomocysteinemia -- 91: Hyperammonemia -- 92: Hereditary Systemic Amyloidosis -- 93: Glycogen Storage Disorders -- 94: Cholesteryl Ester Storage Disease -- 95: The Organic Acidemias -- 96: Primary Carnitine Deficiency -- 97: Phenylketonuria -- Section XI: Obstetrics -- 98: Prenatal Testing, Noninvasive Screening, Invasive Testing, and Carrier Screening.
Summary The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
Other formats Also issued in Online and PDF version.
Notes Description based on cover image and table of contents, viewed on Oct. 20, 2016.
Other author Alkuraya, Fowzan S., ed.
Babyatsky, Mark W., ed.
Giovanni, Monica A., ed.
Murray, Michael F. (Physician), ed.
Stewart, Douglas R., ed.
Subject Clinical Medicine.
Genomics.
Medical genetics.
Variant Title Clinical genomics, practical applications in adult patient care
Clinical genomics, practical applications in adult patient care,
ISBN 0071622446 (print-ISBN)
9780071622448 (print-ISBN)