Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions.
With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated 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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. List of contributors - p. ix 7. Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics - p. xi 8. Preface to hematologic, renal, and immunologic disorders - p. xii 9. Part I: Renal Disorders - p. xii 10. 1. Congenital Anomalies of the Kidney and Urinary Tract - p. 3 11. 2. Cystic Diseases of the Kidney - p. 39 12. 3. Nephrotic Disorders - p. 95 13. 4. Renal Tubular Disorders - p. 115 14. 5. APOL1-Associated Kidney Disease - p. 125 15. Part II: Hematologic Disorders - p. 139 16. 6. Hemoglobinopathies and Thalassemias - p. 143 17. 7. Disorders of Hemostasis and Thrombosis - p. 173 18. 8. Amyloidosis and Other Protein Deposition Diseases - p. 213 19. 9. Leukemias, Lymphomas, and Plasma Cell Disorders - p. 237 20. Part III: Immunologic Disorders - p. 300 21. 10. Inherited Complement Deficiencies - p. 303 22. Heritable and Polygenic Inflammatory Disorders - p. 321 23. Index - p. 357
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions.
With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated 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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. List of contributors - p. ix 7. Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics - p. xi 8. Preface to hematologic, renal, and immunologic disorders - p. xii 9. Part I: Renal Disorders - p. xii 10. 1. Congenital Anomalies of the Kidney and Urinary Tract - p. 3 11. 2. Cystic Diseases of the Kidney - p. 39 12. 3. Nephrotic Disorders - p. 95 13. 4. Renal Tubular Disorders - p. 115 14. 5. APOL1-Associated Kidney Disease - p. 125 15. Part II: Hematologic Disorders - p. 139 16. 6. Hemoglobinopathies and Thalassemias - p. 143 17. 7. Disorders of Hemostasis and Thrombosis - p. 173 18. 8. Amyloidosis and Other Protein Deposition Diseases - p. 213 19. 9. Leukemias, Lymphomas, and Plasma Cell Disorders - p. 237 20. Part III: Immunologic Disorders - p. 300 21. 10. Inherited Complement Deficiencies - p. 303 22. Heritable and Polygenic Inflammatory Disorders - p. 321 23. Index - p. 357
