Medical genetics
Series: Oxford Core Texts;
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14 327 Ft
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Product details:
- Publisher Oxford University Press
- Date of Publication 21 April 2005
- ISBN 9780198564942
- Binding Paperback
- No. of pages320 pages
- Size 246x189x16 mm
- Weight 700 g
- Language English
- Illustrations numerous tables, line drawings and colour photographs 0
Categories
Short description:
A textbook on medical genetics designed for medical students, which covers the core curriculum with emphasis on clinical relevance supplemented by clinical, historical and social vignettes to sustain and stimulate the reader's interest. The book takes a student-friendly approach to the subject by using numerous figures, case histories, summary panels, and bullet lists. Each chapter concludes with a selection of multiple choice questions to test the student's knowledge and to help
them prepare for exams.
Long description:
Medical Genetics: Oxford Core Text has been designed to provide medical students with an understanding of the basic principles of human genetics as they relate to clinical practice. Taking into account the recent recommendations on teaching from the American and British Societies of Human Genetics, each of the initial chapters focuses on a traditional cornerstone of human genetics (molecular genetics, cytogenetics, Mendelian inheritance, polygenic inheritance, population
genetics) with a major emphasis on clinical relevance. These are followed by consideration of subjects of specific medical importance such as the haemoglobinopathies, developmental genetics, cancer genetics and pharmacogenetics, with due attention to topical and evolving issues such as pharmacogenomics, gene
therapy and therapeutic cloning. The final chapters provide an explanation of the genetically related clinical skills and competencies expected of a medical student, together with an overview of the principles of clinical genetics, a rapidly developing clinical specialty which now impinges on almost every aspect of medical practice.
Over 150 illustrations have been included to demonstrate important principles and commonly encountered genetic disorders. Each chapter contains a brief review of a major landmark publication to provide a historical context for more contemporary developments. To help sustain the student's interest and to emphasise the potential importance of genetics in medicine, large numbers of clinically related vignettes have been included covering controversial issues, such as gene patenting and the UK
Biobank, together with case histories and brief biographies of famous figures from history and the arts who have suffered from, and successfully coped with, a genetic disorder.
This is a wonderful review of medical genetics.
Table of Contents:
Gene structure and function
Chromosomes and cell division
Common chromosome disorders
Single-gene (Mendelian) inheritance
Identifying genes for Mendelian diseases
Polygenic inheritance and complex diseases
Genes and populations
Genes and haemoglobin
Genes and development
Genes and cancer
Genes and biochemistry
Genes and drugs and treatment
Clinical skills and scenarios
Applied clinical genetics
Appendices
