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Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and obstetrics. Content has been carefully adapted from the critically acclaimed German text for the English language audience.
作者簡介
Christian P. Schaaf MD
Baylor College of Medicine, Houston, TX
Johannes Zschocke MD, PhD
Metabolic Geneticist, Director of Molecular Genetics Laboratory, Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany
Lorraine Potocki MD
Associate Professor of Human Genetics, Baylor College of Medicine, Houston, TX
1. Introduction
Part I: The Biological Basis of Human Genetics
2. Molecular Basis of Human Genetics
3. Mutations and Genetic Variability
4. Pathomechanisms of Genetic Diseases
5. Modes of Inheritance
6. Twin Pregnancies
7. Cancer Genetics
8. Aging and Genetics
9. Pharmacogenetics
Part II: The Clinical Basis of Medical Genetics
10. Human Genetics as a Medical Specialty
11. Genetic Counseling
12. The Diagnostic Approach for a Child with Multiple Anomalies or
Dysmorphic Features
13. Malformations and Other Morphological Disturbances
14. Risk Estimation and Calculation
15. Methods for Laboratory Diagnostics in Genetics
16. Metabolic Diagnostics and Newborn Screening
17. Prenatal Genetic Evaluation
18. Ethical Concerns in Medical Genetics
Part III: Clinical Genetics
19. Multiple Congenital Anomalies
20. Skin and Connective Tissue
21.Cardiovascular System and Hematology
22. Respiratory System
23. Gastrointestinal and Digestive System
24. Metabolic Disorders
25. Endocrinology and Immune System
26. Skeletal System
27. Urinary System
28. Genital System and Sexual Development
29. Visual System
30. Auditory System
31. Neurological and Neuromuscular Disorders
32. Neoplastic Diseases
Part IV: Approaches to Clinical Problems
33. Infertility and Sterility
34. Miscarriage and Fetal Demise
35. Growth Disturbances
36. Abnormal Head Size
37. Immunodeficiency Syndromes
Part V: Living with Genetic Disorders – Patient Reports
38. Reports of Patients and Their Families
Glossary
