Lavoisier S.A.S.
14 rue de Provigny
94236 Cachan cedex
FRANCE

Heures d'ouverture 08h30-12h30/13h30-17h30
Tél.: +33 (0)1 47 40 67 00
Fax: +33 (0)1 47 40 67 02


Url canonique : www.lavoisier.fr/livre/medecine/emery-and-rimoin-s-principles-and-practice-of-medical-genetics-and-genomics/descriptif_4217596
Url courte ou permalien : www.lavoisier.fr/livre/notice.asp?ouvrage=4217596

0 article 

 Frais de port 0,01€*

Exclusivité web : à partir de 35 euros d’achat, frais de port à 1 centime pour les expéditions vers la France métropolitaine, la Suisse et l’UE avec Colissimo ou GLS

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (7th Ed.) Cardiovascular, Respiratory, and Gastrointestinal Disorders

Langue : Anglais

Coordonnateurs : Pyeritz Reed E., Korf Bruce R., Grody Wayne W.

Couverture de l’ouvrage Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin?s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management.

In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

Section 1 1. Congenital Heart Defects 2. Inherited Cardiomyopathies 3. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension 4. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome) 5. Hereditary Disorders of the Lymphatic System and Varicose Veins 6. The Genetics of Cardiac Electrophysiology in Humans 7. Arteriopathy 8. Genetics of Blood Pressure Regulation 9. Common Genetic Determinants of Coagulation and Fibrinolysis 10. Genetics of Atherosclerotic Cardiovascular Disease 11. Disorders of the Venous System 12. Capillary Malformation/Arteriovenous Malformation

Section 2 13. Cystic Fibrosis 14. Genetic Underpinnings of Asthma and Related Traits 15. Hereditary Pulmonary Emphysema 16. LAM 17. Interstitial and Restrictive Pulmonary Disorders

Section 3 18. Congenital Anomalies of the Kidney and Urinary Tract 19. Cystic Diseases of the Kidney 20. Nephrotic Disorders 21. Renal Tubular Disorders

Section 4 22. Gastrointestinal Tract and Hepatobiliary Duct System 23. Inflammatory Bowel Disease 24. Bile Pigment Metabolism and Its Disorders

Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners and researchers of cardiology, pulmonary medicine, gastrointestinal medicine, and nephrology, as well as genetic diagnostics and therapy in these and related disciplines; genetic counselors; genetic researchers in industry and pharma

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 fr
  • Offers pathways for diagnosis, prevention and disease management
  • Includes color images supporting identification, concept illustration and method processing
  • Features contributions by leading international researchers and practitioners of medical genetics