Emery and Rimoin's Principles and Practice of Medical Genetics - Hardcover

Rimoin, David L.; Connor, J. Michael; Pyeritz, Reed E.; Korf, Bruce R.

Hardcover

ISBN 10: 0443068704 ISBN 13: 9780443068706

Verlag: Churchill Livingstone, 2006

Über diesen Titel

Reseña del editor:

Text with Continually Updated Online Reference! The most definitive and trusted reference in medical genetics is back-complete with state-of-the-art web site! The fifth edition of this comprehensive yet practical resource emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world’s most trusted authorities in medical genetics. The E-dition features the 5th edition of the textbook, additional new images, weekly updates, and more! With the latest information on prenatal diagnosis, genetic screening, genetic counseling, and treatment strategies, Principles and Practice of Medical Genetics will be an invaluable clinical tool for the practicing physician.

Biografía del autor:

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.

Über diese Auflage

• Verlag: Churchill Livingstone
• Erscheinungsdatum: 2006
• ISBN 10: 0443068704
• ISBN 13: 9780443068706
• Einband: Tapa dura
• Auflage: 5
• Anzahl der Seiten: 3637