E-Book

Emery and Rimoin's principles and practice of medical genetics and genomics : Cardiovascular, respiratory, and gastrointestinal disorders. [electronic resource]

  • Pyeritz, Reed E. , Korf, Bruce R. , Grody, Wayne W.
  • Elsevier
  • 2020
Emery and Rimoin's principles and practice of medical genetics and genomics : Cardiovascular, respiratory, and gastrointestinal disorders. [electronic resource]
  • Data Type
    Book
  • Title/Author
    Emery and Rimoin's principles and practice of medical genetics and genomics :Cardiovascular, respiratory, and gastrointestinal disorders.[electronic resource] / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
  • Edition
    7th ed.
  • Varying Title
    Principles and practice of medical genetics and genomics
  • Publication
    Philadelphia : Elsevier, 2020.
  • Author
    Pyeritz, Reed E., Korf, Bruce R., Grody, Wayne W.
  • Phy Desc.
    1 online resources.
  • Topical Term
    Medical genetics
    Genetics, Medical
    Genetic Diseases, Inborn
  • ISBN
    9780128125328, 9780128126806
  • Language
    English

Abstract

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.

Table of Content

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