Emery and Rimoins Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders
Pyeritz, Reed E.
Korf, Bruce R.
Grody, Wayne W.
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference 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 to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In this Volume, Cardiovascular, Respiratory, and Gastrointestinal Disorders, leading international contributors examine the genetics of cardiovascular, respiratory, and gastrointestinal disorders in-depth, with emphasis on understanding the genetic determinants of these disorders and identifying pathways for diagnosis, prevention, and disease management that make use of current genomic technologies and translational studies. Here 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. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition, bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Offers pathways for diagnosis, prevention, and disease managementIncludes color images supporting identification, concept illustration, and method processingFeatures contributions by leading international researchers and practitioners of medical genetics INDICE: 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
- ISBN: 978-0-12-812532-8
- Editorial: Academic Press
- Encuadernacion: Cartoné
- Páginas: 500
- Fecha Publicación: 01/10/2019
- Nº Volúmenes: 1
- Idioma: Inglés