Emery's Elements of Medical Genetics and Genomics

ISBN-13: 9780702079665 / Angielski / Miękka / 2021

Mbchb BSC MRCP (Clinical Genetics
Royal Devon and E Ruth

Spis treści

1 The History and Impact of Genetics in Medicine

Section A: The Scientific Basis of Human Genetics

2 The Cellular and Molecular Basis of Inheritance

3 Chromosomes and Cell Division

4 Finding the Cause of Monogenic Disorders by Identifying Disease Genes

5 Laboratory Techniques for Diagnosis of Monogenic Disorders

6 Patterns of Inheritance

7 Population and Mathematical Genetics

8 Risk Calculation

9 Developmental Genetics

Section B: Genetics in Medicine and Genomic Medicine

10 Common Disease, Polygenic and Multifactorial Genetics

11 Screening for Genetic Disease

12 Haemoglobin and the Haemoglobinopathies

13 Immunogenetics

14 The Genetics of Cancer. . .and Cancer Genetics

15 Pharmacogenomics, Precision Medicine and the Treatment of Genetic Disease

Section C: Clinical Genetics, Counselling and Ethics

16 Congenital Abnormalities, Dysmorphic Syndromes and Intellectual Disability

17 Chromosome Disorders

18 Inborn Errors of Metabolism

19 Mainstream Monogenic Disorders

20 Prenatal Testing and Reproductive Genetics

21 Genetic Counselling

22 Ethical and Legal Issues in Medical Genetics