Emery's Elements of Medical Genetics and Genomics
1. Cover image - p. Cover 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. iv 5. Preface - p. viii 6. Acknowledgments - p. ix 7. Dedication - p. x 8. 1. The History and Impact of Genetics in Medicine - p. 1 9. Section A: The Scientific Basis of Human Genetics - p. 9 10. 2. The Cellular and Molecular Basis of Inheritance - p. 10 11. 3. Chromosomes and Cell Division - p. 26 12. 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 44 13. 5. Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 51 14. 6. Patterns of Inheritance - p. 67 15. 7. Population and Mathematical Genetics - p. 84 16. 8. Risk Calculation - p. 96 17. 9. Developmental Genetics - p. 105 18. Section B: Genetics in Medicine and Genomic Medicine - p. 135 19. 10. Common Disease, Polygenic, and Multifactorial Genetics - p. 136 20. 11. Screening for Genetic Disease - p. 151 21. 12. Hemoglobin and the Hemoglobinopathies - p. 161 22. 13. Immunogenetics - p. 171 23. 14. The Genetics of Cancer…and Cancer Genetics - p. 184 24. 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 210 25. Section C: Clinical Genetics, Counseling, and Ethics - p. 226 26. 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability - p. 227 27. 17. Chromosome Disorders - p. 250 28. 18. Inborn Errors of Metabolism - p. 271 29. 19. Mainstream Monogenic Disorders - p. 289 30. 20. Prenatal Testing and Reproductive Genetics - p. 322 31. 21. Genetic Counseling - p. 338 32. 22. Ethical and Legal Issues in Medical Genetics - p. 345 33. Glossary - p. 355 34. Appendix: Websites and Clinical Databases - p. 372 35. Multiple-Choice Questions - p. 374 36. CHAPTER 2: The Cellular and Molecular Basis of Inheritance - p. 381 37. CHAPTER 3: Chromosomes and Cell Division - p. 381 38. CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 381 39. CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 381 40. CHAPTER 6: Patterns of Inheritance - p. 381 41. CHAPTER 7: Population and Mathematical Genetics - p. 381 42. CHAPTER 8: Risk Calculation - p. 381 43. CHAPTER 9: Developmental Genetics - p. 381 44. CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics - p. 381 45. CHAPTER 11: Screening for Genetic Disease - p. 381 46. CHAPTER 12: Hemoglobin and the Hemoglobinopathies - p. 381 47. CHAPTER 13: Immunogenetics - p. 381 48. CHAPTER 14: The Genetics of Cancer … and Cancer Genetics - p. 381 49. CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 381 50. CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability - p. 381 51. CHAPTER 17: Chromosome Disorders - p. 381 52. CHAPTER 18: Inborn Errors of Metabolism - p. 381 53. CHAPTER 19: Mainstream Monogenic Disorders - p. 381 54. CHAPTER 20: Prenatal Testing and Reproductive Genetics - p. 381 55. CHAPTER 21: Genetic Counseling - p. 381 56. Case-Based Questions - p. 382 57. CHAPTER 6: Patterns of Inheritance - p. 386 58. CHAPTER 7: Population and Mathematical Genetics - p. 386 59. CHAPTER 8: Risk Calculation - p. 386 60. CHAPTER 9: Developmental Genetics - p. 386 61. CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics - p. 386 62. CHAPTER 11: Screening for Genetic Disease - p. 386 63. CHAPTER 12: Hemoglobin and the Hemoglobinopathies - p. 386 64. CHAPTER 13: Immunogenetics - p. 386 65. CHAPTER 14: The Genetics of Cancer … and Cancer Genetics - p. 386 66. CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability - p. 386 67. CHAPTER 17: Chromosome Disorders - p. 386 68. CHAPTER 18: Inborn Errors of Metabolism - p. 386 69. CHAPTER 19: Mainstream Monogenic Disorders - p. 386 70. CHAPTER 20: Prenatal Testing and Reproductive Genetics - p. 386 71. CHAPTER 21: Genetic Counseling - p. 386 72. Clinical Scenario Answers and Discussion - p. 403 73. Index - p. 412
Emery's Elements of Medical Genetics and Genomics
1. Cover image - p. Cover 2. Title page - p. iii 3. Table of Contents - p. iii 4. Copyright - p. iv 5. Preface - p. viii 6. Acknowledgments - p. ix 7. Dedication - p. x 8. 1. The History and Impact of Genetics in Medicine - p. 1 9. Section A: The Scientific Basis of Human Genetics - p. 9 10. 2. The Cellular and Molecular Basis of Inheritance - p. 10 11. 3. Chromosomes and Cell Division - p. 26 12. 4. Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 44 13. 5. Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 51 14. 6. Patterns of Inheritance - p. 67 15. 7. Population and Mathematical Genetics - p. 84 16. 8. Risk Calculation - p. 96 17. 9. Developmental Genetics - p. 105 18. Section B: Genetics in Medicine and Genomic Medicine - p. 135 19. 10. Common Disease, Polygenic, and Multifactorial Genetics - p. 136 20. 11. Screening for Genetic Disease - p. 151 21. 12. Hemoglobin and the Hemoglobinopathies - p. 161 22. 13. Immunogenetics - p. 171 23. 14. The Genetics of Cancer…and Cancer Genetics - p. 184 24. 15. Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 210 25. Section C: Clinical Genetics, Counseling, and Ethics - p. 226 26. 16. Congenital Abnormalities, Dysmorphic Syndromes, and Intellectual Disability - p. 227 27. 17. Chromosome Disorders - p. 250 28. 18. Inborn Errors of Metabolism - p. 271 29. 19. Mainstream Monogenic Disorders - p. 289 30. 20. Prenatal Testing and Reproductive Genetics - p. 322 31. 21. Genetic Counseling - p. 338 32. 22. Ethical and Legal Issues in Medical Genetics - p. 345 33. Glossary - p. 355 34. Appendix: Websites and Clinical Databases - p. 372 35. Multiple-Choice Questions - p. 374 36. CHAPTER 2: The Cellular and Molecular Basis of Inheritance - p. 381 37. CHAPTER 3: Chromosomes and Cell Division - p. 381 38. CHAPTER 4: Finding the Cause of Monogenic Disorders by Identifying Disease Genes - p. 381 39. CHAPTER 5: Laboratory Techniques for Diagnosis of Monogenic Disorders - p. 381 40. CHAPTER 6: Patterns of Inheritance - p. 381 41. CHAPTER 7: Population and Mathematical Genetics - p. 381 42. CHAPTER 8: Risk Calculation - p. 381 43. CHAPTER 9: Developmental Genetics - p. 381 44. CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics - p. 381 45. CHAPTER 11: Screening for Genetic Disease - p. 381 46. CHAPTER 12: Hemoglobin and the Hemoglobinopathies - p. 381 47. CHAPTER 13: Immunogenetics - p. 381 48. CHAPTER 14: The Genetics of Cancer … and Cancer Genetics - p. 381 49. CHAPTER 15: Pharmacogenomics, Precision Medicine, and the Treatment of Genetic Disease - p. 381 50. CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability - p. 381 51. CHAPTER 17: Chromosome Disorders - p. 381 52. CHAPTER 18: Inborn Errors of Metabolism - p. 381 53. CHAPTER 19: Mainstream Monogenic Disorders - p. 381 54. CHAPTER 20: Prenatal Testing and Reproductive Genetics - p. 381 55. CHAPTER 21: Genetic Counseling - p. 381 56. Case-Based Questions - p. 382 57. CHAPTER 6: Patterns of Inheritance - p. 386 58. CHAPTER 7: Population and Mathematical Genetics - p. 386 59. CHAPTER 8: Risk Calculation - p. 386 60. CHAPTER 9: Developmental Genetics - p. 386 61. CHAPTER 10: Common Disease, Polygenic, and Multifactorial Genetics - p. 386 62. CHAPTER 11: Screening for Genetic Disease - p. 386 63. CHAPTER 12: Hemoglobin and the Hemoglobinopathies - p. 386 64. CHAPTER 13: Immunogenetics - p. 386 65. CHAPTER 14: The Genetics of Cancer … and Cancer Genetics - p. 386 66. CHAPTER 16: Congenital Abnormalities, Dysmorphic Syndromes, and Learning Disability - p. 386 67. CHAPTER 17: Chromosome Disorders - p. 386 68. CHAPTER 18: Inborn Errors of Metabolism - p. 386 69. CHAPTER 19: Mainstream Monogenic Disorders - p. 386 70. CHAPTER 20: Prenatal Testing and Reproductive Genetics - p. 386 71. CHAPTER 21: Genetic Counseling - p. 386 72. Clinical Scenario Answers and Discussion - p. 403 73. Index - p. 412
