Auteur : Gunder, Laura M. / Martin, Scott A.

Maison d'édition : Jones and Bartlett Learning

Date de publication : 2011

Collation : xii, 236 p. : ill.

ISBN : 9780763759605

Langue : Anglais

Table des matières : 1. Introduction -- 2. Diagnostic techniques in medical genetics -- 3. Development and teratogenesis -- 4. Neurodegenerative diseases -- 5. Hereditary breast and ovarian cancer syndrome -- 6. Colorectal cancer -- 7. Chronic myelogenous leukemia -- 8. Hemophilia -- 9. Sickle cell disease -- 10. Hemochromatosis -- 11. Cystic fibrosis -- 12. Familial thoracic aortic aneurysms and dissections -- 13. Familial hypercholesterolemia -- 14. Hereditary cardiomyopathies -- 15. Marfan syndrome -- 16. Polycystic kidney disease -- 17. Neurofibromatosis -- 18. Familial malignant melanoma -- 19. Pharmacogenomics -- 20. Gene therapy -- 21. Ethical, legal and social issues

Résumé : Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed.

Mots-clés : Génétique médicale / Troubles du métabolisme

Cote : QZ 50 G975e 2011