Emery and Rimoin's Principles of Practicing Medical Genetics
Churchill Livingstone (Verlag)
978-0-443-06434-0 (ISBN)
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Written for the practising clinician, the fourth edition of this three-volume classic remains the only comprehensive resource in the field. Prepared by internationally recognized authorities, it covers the basic principles of genetics, but emphasises their application in the clinical environment across the full spectrum of inherited disorders. It is essential for clinical geneticists, but is also accessible to other specialists needing expert guidance on the diagnosis and management of genetic disorders.
Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas - Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions - diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of 'uncertainty' as related to the introduction of evolving approaches to assaying a patient's genotype. Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.
'a mine of useful information' - Trends in Genetics New chapters marked in bold BASIC PRINCIPLES - Michael Connor History of Medical Genetics, Dr Victor McKusick; Medicine in a Genetic Context, Dr Barton Childs; Nature and Frequency of Genetic Disease, Dr David L Rimoin, Professor J Michael Connor, Dr Reed E Pyeritz, Dr Bruce Korf; Gene Structure and Function, Dr Leena Peltonen; Mutations in Human Diseases: Nature and Consequences, Professor Stylianos E Antonarakis, Prof Michael Krawczak, Prof David N Cooper; Human Inheritance, Dr Jackie A Cook, Dr Wayne Lam, Dr Robert F Mueller; Segregation Analysis, Dr Anne Spence, Dr Susan E Hodge; Analysis of Genetic Linkage, Dr Niall Anderson; Chromosomal Basis of Inheritance, Dr Julie Korenberg, Dr T K Mohandas; Morbid Anatomy of the Human Genome, Dr Victor McKusick; Mitochondrial Genetics, Dr Douglas C Wallace; Genetic Analysis of Complex Traits, Dr Niall H Anderson, Professor Anna Dominiczak; Population Genetics, Dr Bronya J B Keats, Dr Stephanie L Sherman; Pathogenetics of Disease, Dr Edmond A Murphy, Dr Reed E Pyeritz; Genetic Epidemiology, Dr Neil J Risch; Developmental (Embryological) Genetics, Dr Maximilian Muenke; Human Malformations, Dr Jill Clayton-Smith, Professor Dian Donnai; Twins and Twinning, Dr Judith G Hall; The Molecular Biology of Cancer, Dr Edward Tobias, Dr Donald Black; The Biologic Basis of Aging: Implications for Medical Genetics, Dr George M Martin; Pharmacogenetics, Dr Daniel Nebert GENERAL PRINCIPLES - Michael Connor Genetic Assessment and Pedigree Analysis, Dr Helen M Kingston; Genetic Risk Assessment in Common Diseases, Dr Maren T Scheuner; Risk Estimation in Genetic Counseling, Dr Ian D Young; Cytogenetic Analysis, Professor M A Ferguson-Smith; Diagnostic Molecular Genetics, Dr Wayne Grody, Dr David Seligson, Dr Milhan Telatar; Carrier Screening, Dr Matthew J McGinniss, Dr Kaback; Prenatal Screening for Neural Tube Defects and Aneuploidy, Dr David Aitken; Techniques for Prenatal Diagnosis, Dr Sherman Elias, Dr Joe Leigh Simpson, Dr Lee P Shulman; Neonatal Screening, Dr Richard W Erbe, Dr H.L. Levy; Genetic Counseling,Dr Ann P Walker; Gene Therapy Strategies for the Treatment of Neurodegenerative and Other Genetic Diseases, Dr Edward H Schuchman, Dr Janet E Carter, Prof Robert J Desnick; Ethical and Social Issues in Clinical Genetics, Dr Angus Clarke; Legal Issues in Genetics in Medicne, Dr Philip Reilly APPROACHES TO CLINICAL PROBLEMS - Reed Pyeritz The Genetic Basis of Female Infertility, Dr Larry Layman; Male Infertility, Dr Willy Lissens, Professor Inge Liebaers, Dr Andre Van Steirteghem; Fetal Loss, Dr Rhona Schreck; A Clinical Approach to the Dysmorphic Child, Dr Kenneth L Jones, Dr Marilyn C Jones; Clinical Teratology, Dr James V Hanson, Dr J M Friedman; Abnormal Mental Development, Dr Gerald V Raymond; Abnormal Body Size and Proportion, Dr John Graham Jr, Dr David L Rimoin; Susceptibility and Response to Infection, Dr Michael Murray, Dr James Versalovic; Transplantation Genetics, Dr Massimo Trucco, Prof Wilma B Bias CHROMOSOMAL DISORDERS - Michael Connor Down Syndrome and other Autosomal Trisomies, Dr John L Tolmie; Sex Chromosome Abnormalities, Dr Judith Allanson, Dr Gail Graham; Deletions and Other Structural Abnormalities of the Autosomes, Dr Nancy Spinner, Dr Beverly Emanuel CARDIOVASCULAR DISORDERS - Reed Pyeritz Congenital Heart Disease, Professor John Burn; Common Genetic Determinants of Coagulation and Fibronolysis, Professor Peter J Grant, Dr Angela M Carter; Cardiomyopathies, Professor Hans-Peter Vosberg, Professor William J McKenna; Familial Dysrhythmias and Conduction Disorders, Dr Jeffrey Towbin; Molecular Genetics of Hypertension, Dr Pierre Corvol, Dr Xavier Jeunemaitre; Preeclampsia, Dr Reynir Arngrimsson; Genetic Determinants of Atherosclerotic Heart Disease and Other Occlusive Arterial Disorders, Dr Paul Thompson, Dr Asad Rizvi, Dr Reed Pyeritz; Hereditary Disorders or the Lymphatic and Venous Systems, Dr Robert E Ferrell, Dr Reed E Pyeritz RESPIRATORY DISORDERS - Reed Pyeritz Cystic Fibrosis, Dr Gary Cutting; Asthma, Dr Deborah A Meyers, Dr Eugene R Bleeker; Hereditary Pulmonary Emphysema, Dr Edwin K Silverman; Interstitial and Restrictive Pulmonary Disorders, Dr Gary W Hunninghake, Dr Gunnar Gudmundsson RENAL DISORDERS - David Rimoin Congenital Disorders or the Urinary Tract, Dr Margot Van Allen; Renal Cystic Diseases, Dr Stanley C Jordan, Dr Asha Moudgil, Dr Ragini Fredrich, Dr H Kangarloo; Nephrotic Disorders, Dr Helena Kaariainen, Dr Hannu Jalanko, Dr Reijo Norio; Renal Tubular Disorders, Dr Richard Hillman; Cancer of the Kidney and Urogenital Tract, Professor Eamonn R Maher GASTROINTESTINAL DISORDERS - Reed Pyeritz Gastrointestinal Tract and Hepatobiliary Duct System, Professor Eberhard Passarge; Inflammatory Bowel Disease,Dr Jerome I Rotter; Hereditary Disorders of the Liver and Biliary System, Dr Namita Roy Chowdhury, Dr Ajit Kadakol, Jayanta Roy Chowdhury; Cancer of the Colon and Gastrointestinal Tract, Dr Richard Boland, Dr Stephen J Melzter HEMATOLOGIC DISORDERS - Reed Pyeritz Hematoglobinopathies and Thalassemias, Dr John Old; Other Hereditary Red Blood Cell Disorders, Dr Bertil Glader; Hemophilias and Other Disorders of Hemostasis, Dr David Ginsburg; Rhesus and Other Fetomaternal Incompatibilities, Professor Phillip R Bennett, Professor Charles H Rodeck, Dr Mahesh Choolani; Leukemias, Lymphomas, and Other Related Disorders, Dr Janet D Rowley, Dr Yuri N Kobzev IMMUNOLOGIC DISORDERS - David Rimoin Autoimmunity, Dr Henry Ehrlich; Systemic Lupus Erythematosus, Dr Betty P Tsao, Dr Bevra Hahn; Rheumatoid Arthritis and Allied Inflammatory Arthropathies, Dr Paul Wordsworth; Amyloidosis and Other Protein Deposition Diseases, Dr Merrill Benson; Immunodeficiency Disorders, Dr Kurt H Hirschhorn, Dr Rochelle Hirschhorn; Complement Defects, Dr Fred Rosen, Dr Chester A. Alper, Dr Alvin E Davis III; Disorders of Leukocyte Function, Dr Harry R Hill, Dr Kuender D Yang ENDOCRINOLOGIC DISORDERS - David Rimoin Genetic Disorders of the Pituitary Gland, Dr Chanda T Moseley, Dr John A Phillips III, Dr David L Rimoin; Thyroid Disorders, Dr Delbert Fisher; Parathyroid Disorders, Dr Geoffrey N Hendy, Dr David EC Cole; Diabetes Mellitus, Dr Leslie J Raffel; Genetic Disorders of the Adrenal Gland, Dr Maria New; Disorders of the Gonads, Genital Tract and Genitalia, Dr Joe Leigh Simpson; Cancer of the Breast and Female Reproductive Tract, Dr Michael Steel METABOLIC DISORDERS - David Rimoin Disorders of the Body Mass, Dr Patricia Donohoue; Amino Acid Metabolism, Dr William R Wilcox, Dr Stephen D Cederbaum; Disorders of Carbohydrate Metabolism, Dr Won G Ng, Dr Thomas Roe; Purine and Pyrimidine Metabolism, Dr J Edwin Seegmiller; Lipoprotein and Lipid Metabolism, Dr Aldon J Lusis, Dr Boris Ivandic, Dr Lawrence W Castellani; Disorders of Fatty Acid Transport and Mitochondrial Oxidation, Dr Piero Rinaldo, Dr Dietrich Matern; Organic Acidemias and Disorders of Fatty Acid Oxidation, Dr Stephen Goodman; Vitamin D Metabolism or Action, Dr Michael A Levine; Inherited Porphyrias, Dr Robert J Desnick, Dr Kenneth H Astrin, Dr Karl E Anderson; Copper Metabolism, Seymour Packman; Iron Metabolism and Related Disorders, Dr Jeffrey Gruen, Dr Thomas W Chu, Dr Christopher Bowlus; Mucopolysaccharidoses, Dr Jurgen Spranger; Oligosaccharridoses and Allied Disorders, Dr Jules Leroy; Gangliosidoses and Related Lipid Storage Diseases, Dr Alan Percy; Peroxisomal Disorders, Professor Ronald J A Wanders, Professor P G Barth, Professor H S A Heymans MENTAL AND BEHAVIOURAL DISORDERS - Bruce Korf The Genetics of Personality, Dr Matthew McGue; Fragile X Syndrome and Other Causes of X-linked Mental Handicap, Professor Grant R Sutherland, Dr John Mulley, Dr Jozef Gecz; Dyslexia and Other Specific Learning Disorders, Dr Shelley D Smith, Dr Jeffrey W Gilger, Dr Bruce F Pennington; Attention Deficit Hyperactivity Disorder, Dr Steven Faraone, Dr Alysa Doyle; Autism and Other Behavioral Disorders, Professor Emily Simonoff, Professor Sir Michael Rutter; Alzheimer Disease and Other Dementias, Dr Margaret Pericak-Vance, Dr Anne Saunders; Schizophrenia, Dr Dennis K Kinney; Major Mood Disorders, Dr Melvin G McInnis, Dr J Raymond DePaulo Jr; Addictive Disorders, Dr Tatiana Foroud, Dr Wade Berrettini NEUROLOGIC DISORDERS - Bruce Korf Clinical Genetics of Neural Tube Defects and other Congenital Nervous System Malformations, Dr John L Tolmie; Genetic Disorders of Cerebral Cortical Development, Dr Christopher A Walsh, Dr Mohamed Sabry, Dr Ganeshwaran H Mochida; The Epilepsies, Professor R M Gardiner, Dr Frances Elmslie, Dr Anna-Elina Lehesjoki; Basal Ganglia Disorders, Dr Michael R Hayden, Dr Berry Kremer; Hereditary Ataxias, Dr Puneet Opal, Dr Huda Zoghbi; Hereditary Spastic Paraplegia, Dr John K Fink; Autonomic and Sensory Disorders, Dr Felicia Axelrod; The Phakomatoses, Dr Bruce Korf; Multiple Sclerosis and Other Demyelinating Disorders, Dr Dessa Sadovnick; Cerebrovascular Disorders, Dr Martin Dichgans, Dr Anne Joutel; Primary Tumors of the Nervous System, Dr Stephan Pulst, Dr Daniel R Scoles NEUROMUSCULAR DISORDERS - Bruce Korf Congenital Muscular Dystrophies, Dr Eugenio Mercuri, Dr J Philpot, Professor Victor Dubowitz; Duchenne and Other X-linked Muscular Dystrophies, Professor Alan E H Emery; Autosomally Inherited Muscular Dystrophies, Dr K Bushby; Hereditary Motor and Sensory Neuropathies, Dr Neal Boerkoel, Dr James Lupski; Congenital Myopathies, Dr Carina A Wallgren-Pettersson, Dr Angus Clarke; Spinal Muscular Atrophies, Dr Klaus Zerres, Dr Sabine Rudnik-Schoneborn; Nondystrophic Myotonias and Periodic Paralyses, Professor Reinhardt Rudel, Professor Frank Lehmann-Horn; Myotonic Dystrophy, Professor Peter S Harper; Hereditary and Autoimmune Myasthenias, Professor Nicholas Willcox, Dr David Beeson; Motor Neurone Diseases, Professor Teepu Siddique OPHTHALMOLOGIC DISORDERS - Bruce Korf Color Vision Defects, Dr Samir S Deeb, Dr Arno Motulsky; Optic Atrophy and Congenital Blindness, Dr Irene H Maumenee, Dr Veronique J Arnould-Devuyst; Glaucoma, Dr Henry D Jampel, Dr Robert Nickells, Dr Donald J Zack; Defects of the Cornea, Dr Joel Sugar; Anomalies of the Lens, Dr Yaron S Rabinowitz, Dr Katherine Bergwerk, Dr Edward Cotlier; Hereditary Retinal and Choroidal Degenerations, Dr John R Heckenlively; Strabismus, Dr J Bronwyn Bateman, Dr Sherwin J Isenberg; Retinoblastoma, Dr A Linn Murphree DEAFNESS - Bruce Korf Nonsyndromic and Syndromic Deafness, Dr Nathan Fischel-Ghodsian, Dr Rena Falk CRANIOFACIAL DISORDERS - Reed Pyeritz Craniosynostosis, Dr Amy Feldman Lewanda, Dr Ethylin Jabs; Craniofacial Disorders, Dr M Michael Cohen DERMATOLOGIC DISORDERS - David Rimoin Abnormalities of Pigmentation, Dr Richard A King; Ichthyosiform Dermatoses, Dr Howard P Baden, Dr David Avram; Epidermolysis Bullosa, Professor I Anton-Lamprecht, Professor Tobias Gedde-Dahl Jr; Ectodermal Dysplasias, Dr Jonathan Zonana; Other Genetic Disorders of the Skin, Dr Lowell A Goldsmith, Dr Lori Schaen; Skin Cancer, Professor Rhona MacKie CONNECTIVE TISSUE DISORDERS - Reed Pyeritz Marfan Syndrome and Other Disorders of Fibrillin, Dr Reed E Pyeritz; Ehlers-Danlos Syndrome, Dr Peter H Byers, Dr Ulrike Schwarze; Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders, Dr Jouni Uitto, Dr Leena Pulkkinen SKELETAL DISORDERS - David Rimoin Chondrodysplasias, Dr David L Rimoin, Dr Ralph Lachman, Dr Sheila Unger; Disorders of Bone Density, Volume and Mineralization, Dr David Sillence; Abnormalities of Bone Structure, Dr William Horton; The Dysostoses, Dr Deborah Krakow; Arthrogryposes (Multiple Congenital Contractures), Dr Judith Hall; Common Skeletal Deformities, Dr William Horton; Hereditary Noninflammatory Arthropathies, Professor Peter Beighton
| Erscheint lt. Verlag | 8.1.2002 |
|---|---|
| Zusatzinfo | 1170 ills. |
| Verlagsort | London |
| Sprache | englisch |
| Maße | 229 x 286 mm |
| Themenwelt | Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik |
| ISBN-10 | 0-443-06434-2 / 0443064342 |
| ISBN-13 | 978-0-443-06434-0 / 9780443064340 |
| Zustand | Neuware |
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