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.
1. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics - p. i 2. Cover - p. i 3. Front Matter - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. List of Contributors - p. iv 7. Preface to the Seventh Edition of Emery and Rimoin’s Principles and Practice of Medical Genetics AND GENOMICS - p. vi 8. Preface to Cardiovascular, Respiratory, and Gastrointestinal Disorders - p. viii 9. List of Illustrations - p. ix 10. List of Tables - p. x 11. 1 : Congenital Heart Defects - p. x 12. 2 : Genetic Cardiomyopathies - p. 76 13. 3 : Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)∗ - p. 114 14. 4 : Genetics of Electrophysiologic Disorders - p. 140 15. 5 : Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections - p. 173 16. 6 : The Genetics of Blood Pressure Regulation - p. 195 17. 7 : Genetics and Genomics of Atherosclerotic Cardiovascular Disease - p. 208 18. 8 : Genetic Disorders of the Lymphatic System - p. 230 19. 9 : Disorders of the Venous System - p. 249 20. 10 : Capillary Malformation/Arteriovenous Malformation - p. 260 21. 11 : Cerebral Cavernous Malformations, Molecular Biology, and Genetics - p. 266 22. 12 : Cystic Fibrosis - p. 282 23. 13 : Genetic Underpinnings of Asthma and Related Traits - p. 339 24. 14 : Hereditary Pulmonary Emphysema∗ - p. 360 25. 15 : Genetic Determinants of Interstitial Lung Diseases∗ - p. 403 26. 16 : Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension∗ - p. 437 27. 17 : Gastrointestinal Tract and Hepatobiliary Duct System - p. 462 28. 18 : Inflammatory Bowel Disease∗ - p. 483 29. 19 : Bile Pigment Metabolism and Its Disorders - p. 505 30. Index - p. 553
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.
1. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics - p. i 2. Cover - p. i 3. Front Matter - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. List of Contributors - p. iv 7. Preface to the Seventh Edition of Emery and Rimoin’s Principles and Practice of Medical Genetics AND GENOMICS - p. vi 8. Preface to Cardiovascular, Respiratory, and Gastrointestinal Disorders - p. viii 9. List of Illustrations - p. ix 10. List of Tables - p. x 11. 1 : Congenital Heart Defects - p. x 12. 2 : Genetic Cardiomyopathies - p. 76 13. 3 : Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)∗ - p. 114 14. 4 : Genetics of Electrophysiologic Disorders - p. 140 15. 5 : Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections - p. 173 16. 6 : The Genetics of Blood Pressure Regulation - p. 195 17. 7 : Genetics and Genomics of Atherosclerotic Cardiovascular Disease - p. 208 18. 8 : Genetic Disorders of the Lymphatic System - p. 230 19. 9 : Disorders of the Venous System - p. 249 20. 10 : Capillary Malformation/Arteriovenous Malformation - p. 260 21. 11 : Cerebral Cavernous Malformations, Molecular Biology, and Genetics - p. 266 22. 12 : Cystic Fibrosis - p. 282 23. 13 : Genetic Underpinnings of Asthma and Related Traits - p. 339 24. 14 : Hereditary Pulmonary Emphysema∗ - p. 360 25. 15 : Genetic Determinants of Interstitial Lung Diseases∗ - p. 403 26. 16 : Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension∗ - p. 437 27. 17 : Gastrointestinal Tract and Hepatobiliary Duct System - p. 462 28. 18 : Inflammatory Bowel Disease∗ - p. 483 29. 19 : Bile Pigment Metabolism and Its Disorders - p. 505 30. Index - p. 553
