Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Cardiovascular, Respiratory, and Gastrointestinal Disorders

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

• Publisher: Academic Press
• Year: 2019
• Print ISBN:
  9780128125328
• eBook ISBN:
  9780128126806
• Edition: 7
• Topic: Medicina
• Subtopic: Genetica in medicina

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. - 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

Table of contents

• Cover
• Front Matter
• Table of Contents
• Copyright
• List of Contributors
• Preface to the Seventh Edition of Emery and Rimoin’s Principles and Practice of Medical Genetics AND GENOMICS
• Preface to Cardiovascular, Respiratory, and Gastrointestinal Disorders
• List of Illustrations
• List of Tables
• 1 : Congenital Heart Defects
• 2 : Genetic Cardiomyopathies
• 3 : Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)∗
• 4 : Genetics of Electrophysiologic Disorders
• 5 : Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections
• 6 : The Genetics of Blood Pressure Regulation
• 7 : Genetics and Genomics of Atherosclerotic Cardiovascular Disease
• 8 : Genetic Disorders of the Lymphatic System
• 9 : Disorders of the Venous System
• 10 : Capillary Malformation/Arteriovenous Malformation
• 11 : Cerebral Cavernous Malformations, Molecular Biology, and Genetics
• 12 : Cystic Fibrosis
• 13 : Genetic Underpinnings of Asthma and Related Traits
• 14 : Hereditary Pulmonary Emphysema∗
• 15 : Genetic Determinants of Interstitial Lung Diseases∗
• 16 : Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension∗
• 17 : Gastrointestinal Tract and Hepatobiliary Duct System
• 18 : Inflammatory Bowel Disease∗
• 19 : Bile Pigment Metabolism and Its Disorders
• Index
• A