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010 _a2012278105
020 _a0071622446 (printISBN)
020 _a9780071622448 (print-ISBN)
035 _a(OCoLC)837954024
050 4 _aQH447
_b.C55 2014
060 1 0 _aC641 2014
060 1 0 _aQU 460
082 0 4 _a572.8/6
_223
245 0 0 _aClinical genomics
_h[electronic resource] :
_bpractical applications in adult patient care /
_cMichael F Murray, Mark W Babyatsky, Monica A Giovanni, Fowzan S Alkuraya, Douglas R Stewart.
246 3 0 _aClinical genomics, practical applications in adult patient care
246 3 0 _aClinical genomics, practical applications in adult patient care,
250 _a1st ed.
260 _aNew York, N.Y. :
_bMcGraw-Hill Education LLC.,
_cc2014.
300 _axxx, 928 p. :
_bill., figs., tables;
_c28 cm.
490 1 _aMcGraw-Hill's AccessMedicine
504 _aIncludes bibliographical references and indexes.
505 0 _a99: 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.
505 0 _aSection 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.
520 0 _aThe 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.
530 _aAlso issued in Online and PDF version.
588 _aDescription based on cover image and table of contents, viewed on Oct. 20, 2016.
650 0 _aClinical Medicine.
650 0 _aGenomics.
650 0 _aMedical genetics.
650 1 2 _aClinical Medicine.
650 2 2 _aGenomics.
700 1 _aAlkuraya, Fowzan S.,
_eed.
700 1 _aBabyatsky, Mark W.,
_eed.
700 1 _aGiovanni, Monica A.,
_eed.
700 1 _aMurray, Michael F.
_c(Physician),
_eed.
700 1 _aStewart, Douglas R.,
_eed.
776 0 8 _iOnline version:
_tClinical genomics, practical applications in adult patient care .
_dNew York, N.Y. : McGraw-Hill Education LLC.,
_c2014.
_w(OCoLC)837954024
830 0 _aMcGraw-Hill's AccessMedicine.
856 4 0 _uhttp://accessmedicine.mhmedical.com/book.aspx?bookid=1094
949 _aQH 447
_b.C55 2014
_wLC
_c1
_i310143-1001
_d03/30/2016
_lMAIN
_mMGH
_q1
_rY
_sY
_tWEB
_u03/30/2016
_xENG
999 _c1377
_d1377