Emery's Elements of Medical Genetics and Genomics

Turnpenny, P. — Ellard, S. — Cleaver, R.

16ª Edition February 2021

English

ISBN 9780702079672

Publisher ELSEVIER

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genomics

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

Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge.Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics.

Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and EthicsFeatures full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.