Medical Genetics E-Book

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Elsevier Health Sciences, 6 oct 2009 - 368 páginas

Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list.

This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. .

Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.

Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.

Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.

Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.

Includes study questions at the end of every chapter so you can test yourself and retain the material.

Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.

 

Índice

Background and History
1
Basic Cell Biology Structure and Function of Genes and Chromosomes
5
Genetic Variation Its Origin and Detection
26
Autosomal Dominant and Recessive Inheritance
56
SexLinked and Nontraditional Modes of Inheritance
76
Clinical Cytogenetics The Chromosomal Basis of Human Disease
100
Biochemical Genetics Disorders of Metabolism
128
Gene Mapping and Identification
150
Cancer Genetics
212
Multifactorial Inheritance and Common Diseases
231
Genetic Testing and Gene Therapy
258
Genetics and Personalized Medicine
284
Clinical Genetics and Genetic Counseling
292
Glossary
311
Answers To Study Questions
328
Index
339

Immunogenetics
176
Developmental Genetics
193

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