Medical Genetics - Couverture souple

Young, Ian D.

 
9780198564942: Medical Genetics

Synopsis

"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.

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Présentation de l'éditeur

Highly Commended in the 2006 BMA Medical Book Competition (Basic and clinical sciences) Medical Genetics provides medical and biomedical science students with an understanding of the basic principles of human genetics as they relate to clinical practice. 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. Online Resource Centre Medical Genetics is accompanied by an extensive Online Resource Centre, which offers a wealth of additional materials, including: · Multiple Choice Questions and Extended Matching Questions, to help you test your knowledge of each chapter of the book · Hyperlinked bibliography offering direct links to online articles cited in the book · Case Celebres: additional case celebres to those in the book · OMIM Database Links, providing hyperlinks to the NIH's database of genetic diseases · Pedigree Examples, giving guidance on constructing family trees · Bonus material from other seminal genetics titles published by Oxford University Press

Revue de presse

This textbook offers a successful review of the basics of medical genetics. Some prior knowledge would be useful when reading it, but it makes a great revision tool, as the basic concepts are summarised clearly and effectively. ('Journal of the Times Education Supplement')

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