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Oxford Desk Reference Clinical Genetics (Oxford Desk Reference Series), by Jane A. Hurst
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This important new book provides a useful, easy-to-use guide to the clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out-patient and ward-based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are covered. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well-illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. This accessible book is designed for use by consultants and trainees in clinical genetics, genetic counsellors and paediatricians, particularly those working in paediatric neurology, neonatology or child development.
- Sales Rank: #1000703 in Books
- Published on: 2005-09-01
- Original language: English
- Number of items: 1
- Dimensions: 6.60" h x 1.70" w x 9.60" l, 3.50 pounds
- Binding: Hardcover
- 752 pages
Review
"This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clincial geneticists who require a fast review of specific genetic subjects while performing clinical consulations.... Dr. Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better.... This is a must have book..." --Doody's Book Review --Doody's Book Review
"It is remarkable in that so much information is included...a useful concept."--Books-On-Line
"If your department can only afford one book this year, make it this one. Better still, buy your own copy and keep it hidden because it is going to be much in demand."--Journal of Medical Genetics
"Overall this book is a winner and is a must for every clinical genetics department. This is arguably the most important book ever published for trainees in genetics."--Ulster Medical Journal
"This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clincial geneticists who require a fast review of specific genetic subjects while performing clinical consulations.... Dr. Firth and Hurst have achieved a tremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better.... This is a must have book..." --Doody's Book Review
"It is remarkable in that so much information is included...a useful concept."--Books-On-Line
"If your department can only afford one book this year, make it this one. Better still, buy your own copy and keep it hidden because it is going to be much in demand."--Journal of Medical Genetics
"Overall this book is a winner and is a must for every clinical genetics department. This is arguably the most important book ever published for trainees in genetics."--Ulster Medical Journal
"This book represents a comprehensive and highly focused guide to clinical genetics that should certainly rank as an indispensible handbook for consultants in clinical genetics, genetic counsellors and paediatricians. However, it should also be extremely useful for PhD students in nearly all disciplines within medical and/or human genetics."--Institute of Human Genetics
About the Author
Helen V Firth is a Consultant Clinical Geneticist, Addenbrookes Hospital, Cambridge, UK. Jane A Hurst is a Consultant in Clinical Genetics, Oxford Radcliffe Hospitals NHS Trust, UK. Judith G Hall is a Professor of Pediatrics and Medical Genetics, UBC and Children's and Women's Health Centre of British Columbia, Vancouver, Canada.
Most helpful customer reviews
2 of 2 people found the following review helpful.
Quick Reference to a Wealth of Information
By John Matlock
As a desk reference this book is not intended to be a replacement for a textbook on the subject, but to provide a well indexed quick guide to problems likely to confront the clinical worker.
In addition, the clinical worker is likely to find this to be a useful book to share with patients seeding additional information about particular conditions. The ability to show such patients (or their parents) brief descriptions of conditions being discussed is often a help. This is especially true in those cases where diagrams are included that can be shown to illustrate the condition being discussed.
This is the first edition of this book. It is remarkable in that so much information is included. It is such a useful concept that I expect there will be future editions over time and that it will become one of the standards kept on everyone's desk.
1 of 1 people found the following review helpful.
Absoluteley essential guide for clinical genetics
By Rhiannon O'connor
This is an all encompassing guide to clinical genetics. Straight forward for the lay person to understand but essential to all professionals in the field
0 of 0 people found the following review helpful.
Extensive guide to clinical geneticist
By T. Bulakbasi
This reference book has provided useful notes for a list of diseases and conditions one may need to look up from time to time. Geneticists would benefit the most, especially in my opinion, ones that have not specifically worked in the clinical field. As mediterrenean folks, we were surprised to find out FMF was left out. Some other common dysmorphic features were not as comprehensive as others. Nevertheless, I think this book is a must in a hospital genetician's library; hence the title "desk reference".
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