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Huntington S Disease

Author: Oliver Quarrell
Publisher: Oxford University Press
ISBN: 0199212015
Size: 52.89 MB
Format: PDF
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Huntington's disease affects 1 person in 10,000 but this figure is an underestimate because the immediate carer, spouse/partner and the close relatives at risk of developing this condition in the future are also affected. The new edition has been revised to include important new developments that have occurred in the field in recent years.

Huntington S Disease

Author: Gillian Bates
Publisher: Oxford University Press (UK)
ISBN: 0199929149
Size: 45.57 MB
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Preceded by Huntington's disease / [edited by] Gillian Bates, Peter S. Harper, Lesley Jones. 3rd ed. 2002.

The Genetic Basis Of Common Diseases

Author: Richard A. King
Publisher: Oxford University Press
ISBN: 0195125827
Size: 63.23 MB
Format: PDF, ePub, Docs
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Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches; problems seen by all physicians. Chapters on the evolution of human genetic disease and on animal models add important background information on the complexities of these diseases. Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics.

Genetic Skin Disorders

Author: Virginia P. Sybert
Publisher: Oxford University Press
ISBN: 0190276479
Size: 78.10 MB
Format: PDF
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This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed by the author's extensive clinical experience and suffused with a distinctive, witty voice, GENETIC SKIN DISORDERS is an ideal companion in the laboratory, clinic, or consulting room. FEATURES . Includes both disease-based chapters and an appendix of skin signs that simplifies differential diagnosis for specialists and general practitioners alike . More than 800 color photographs illustrate the full spectrum of hair, skin, and nail abnormalities . Updated to reflect current classification of inherited skin disorders and the molecular underpinnings of these conditions "

A Short History Of Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195187504
Size: 39.69 MB
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Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.

Landmarks In Medical Genetics

Author: Peter S. Harper
Publisher: Oxford University Press
ISBN: 0195159306
Size: 11.12 MB
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Because advances in medical genetics over the past 50 years have been so rapid, clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments which are now accepted and familiar. This collection of classic papers has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context, serve to unify the different parts of the book, and help make it both readable and authoritative.

Hereditary Hearing Loss And Its Syndromes

Author: Helga V. Toriello
Publisher: Oxford University Press
ISBN: 0199313881
Size: 29.13 MB
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This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Genomics And Health In The Developing World

Author: Dhavendra Kumar
Publisher: Oxford University Press
ISBN: 019970547X
Size: 39.74 MB
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Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.

Huntington S Disease

Author: Gillian Bates
Publisher: Oxford University Press, USA
ISBN: 9780198510604
Size: 63.14 MB
Format: PDF
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It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. An international group of researchers and clinicians with specialist interests in Huntington's Disease has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy.