Emery's Elements of Medical Genetics

by Turnpenny, Peter D.; Ellard, Sian, Ph.D.

• ISBN13: 9780702029172
• ISBN10: 0702029173
• Edition: 13th
• Format: Paperback
• Copyright: 2007-07-09
• Publisher: Elsevier Science Health Science

Summary

Emery's Elements of Medical Genetics has been a best seller for over 30 years. Generations of students have appreciated its unique balance of basic sciencegenetics as applied to medicineand clinical genetics. With its rigorously updated content and STUDENT CONSULT access, the 13th Edition of this classic text delivers even more learning opportunities! Clinical examples, improved clinical photographs, and multiple-choice and case-based review questions make state-of-the-art knowledge easier to learn than ever before. When you combine all of these enhancements with the succinct, straightforward, well-illustrated coverage that readers have always enjoyed, the result is a superb resource that helps you master the genetics you need to know. Better understand and apply basic principles of genetics to clinical situations. Quickly review key clinical knowledge with handy summary boxes. Know where to find further information online with a section dedicated to internet research. Test your knowledge with multiple-choice and case-based questions. Access the entire contents of the book online and view related content in other STUDENT CONSULT titles with STUDENT CONSULT access. Tap into the latest developments with new chapters on ophthalmic genetics, skeletal dysplasias, stem cell therapy, and genetics and the law. Stay informed with updated chapters on all aspects of genetics, from DNA technology and applications, developmental genetics, and polygenic and multifactorial inheritance through to pharmacogenetics, cancer genetics, and congenital abnormalities. Identify the genetic factors behind common diseases with a newly revised chapter dedicated solely to this important subject. See rare genetic disorders in stunning detail with improved clinical photographs.

Table of Contents

Principles of Human Genetics

The history and impact of genetics in medicine

The cellular and molecular basis of inheritance

Chromosomes and cell division

DNA technology and applications

Developmental genetics

Patterns of inheritance

Mathematical and population genetics

Polygenic and multifactorial inheritance

Genetics in Medicine

Haemaoglobin and the haemoglobinopathies

Biochemical genetics

Pharmacogenetics

Immunogenetics

The genetics of cancer

Genetic factors in common diseases

Genetics and congenital abnormalities

Clinical Genetics

Genetic counseling

Chromosome disorders

Single gene disorders

Carrier detection and presymptomatic diagnosis

Risk calculation

Prenatal diagnosis of genetic disease

Population screening and community genetics

The human genome project, treatment of genetic disease and gene therapy

Ethical issues in medical genetics

Appendix: Advice on using the Internet for further genetics research

Glossary

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