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Clinical genetics
Оборот титула
Table of contents
List of symbols and abbreviations
Introduction
Chapter 1. Introduction to clinical genetics
+
Chapter 2. Heredity and pathology
+
Chapter 3. Semiotics and clinical diagnostics of inherited diseases
+
Chapter 4. Genetic diseases
-
Classification
Common patterns of pathogenesis
Pathogenesis of the disease at the molecular level
Cellular-level pathogenesis of genetic disorders
Organ-level pathogenesis
Organismal level
The main characteristics of the clinical picture
Features of the clinical picture
Clinical polymorphism and its causes
Genetic heterogeneity
Clinic and genetics of some genetic disorders
Neurofibromatosis (Recklinghausen disease)
Myotonic dystrophy
Familial hypercholesterolemia
Marfan syndrome
Ehlers–Danlos syndrome
Phenylketonuria
Cystic fibrosis
Adrenogenital syndrome
Duchenne–Becker myodystrophy
Fragile X Mental Retardation Syndrome
Epidemiology
Keywords and concepts
Recommended biblioGraphy
Chapter 5. Chromosomal disorders
+
Chapter 6. Diseases with hereditary predisposition
+
Chapter 7. Ecological genetics
+
Chapter 8. Pharmacogenetics
+
Chapter 9. Laboratory diagnostic methods
+
Chapter 10. Guidelines for treatment of hereditary diseases
+
Chapter 11. Prevention of hereditary pathology
+
Chapter 12. Ethical issues in medical genetics
+
Test questions
+
Appendix
+
Close Menu
Раздел
6
/
16
Страница
10
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38
Chapter 4. Genetic diseases
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Clinical genetics
Table of contents
List of symbols and abbreviations
Introduction
Chapter 1. Introduction to clinical genetics
+
Chapter 2. Heredity and pathology
+
Chapter 3. Semiotics and clinical diagnostics of inherited diseases
+
Chapter 4. Genetic diseases
-
Classification
Common patterns of pathogenesis
Pathogenesis of the disease at the molecular level
Cellular-level pathogenesis of genetic disorders
Organ-level pathogenesis
Organismal level
The main characteristics of the clinical picture
Features of the clinical picture
Clinical polymorphism and its causes
Genetic heterogeneity
Clinic and genetics of some genetic disorders
Neurofibromatosis (Recklinghausen disease)
Myotonic dystrophy
Familial hypercholesterolemia
Marfan syndrome
Ehlers–Danlos syndrome
Phenylketonuria
Cystic fibrosis
Adrenogenital syndrome
Duchenne–Becker myodystrophy
Fragile X Mental Retardation Syndrome
Epidemiology
Keywords and concepts
Recommended biblioGraphy
Chapter 5. Chromosomal disorders
+
Chapter 6. Diseases with hereditary predisposition
+
Chapter 7. Ecological genetics
+
Chapter 8. Pharmacogenetics
+
Chapter 9. Laboratory diagnostic methods
+
Chapter 10. Guidelines for treatment of hereditary diseases
+
Chapter 11. Prevention of hereditary pathology
+
Chapter 12. Ethical issues in medical genetics
+
Test questions
+
Appendix
+
