Signs And Symptoms Of Genetic Conditions

Author : Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme
Publisher : Oxford University Press
Page : 418 pages
File Size : 51,5 Mb
Release : 2014-05-30
Category : Medical
ISBN : 9780199388691

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Signs and Symptoms of Genetic Conditions by Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme Pdf

Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Author : Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme
Publisher : Oxford University Press, USA
Page : 561 pages
File Size : 45,9 Mb
Release : 2014
Category : Medical
ISBN : 9780199930975

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Signs and Symptoms of Genetic Conditions by Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme Pdf

Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.

Author : H. Eugene Hoyme,Louanne Hudgins,Gregory M. Enns
Publisher : Saunders
Page : 128 pages
File Size : 54,9 Mb
Release : 2008-06-01
Category : Medical
ISBN : 1416029656

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Signs and Symptoms of Genetic Disease by H. Eugene Hoyme,Louanne Hudgins,Gregory M. Enns Pdf

Author : Institute of Medicine,Committee on Assessing Genetic Risks
Publisher : National Academies Press
Page : 353 pages
File Size : 51,7 Mb
Release : 1994-01-01
Category : Medical
ISBN : 9780309047982

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Assessing Genetic Risks by Institute of Medicine,Committee on Assessing Genetic Risks Pdf

Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Author : H. Eugene Hoyme,Louanne Hudgins,Helga V. Toriello,Gregory M. Enns
Publisher : Unknown
Page : 128 pages
File Size : 43,5 Mb
Release : 2014
Category : Diagnosis, Differential
ISBN : 0199353077

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Signs and Symptoms of Genetic Conditions by H. Eugene Hoyme,Louanne Hudgins,Helga V. Toriello,Gregory M. Enns Pdf

Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.

Author : Anonim
Publisher : Elsevier
Page : 273 pages
File Size : 55,7 Mb
Release : 2012-10-16
Category : Medical
ISBN : 9780444543004

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Down Syndrome: From Understanding the Neurobiology to Therapy by Anonim Pdf

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

Author : Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar
Publisher : John Wiley & Sons
Page : 644 pages
File Size : 44,8 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210536

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A Guide to Genetic Counseling by Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar Pdf

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Author : Thomas D. Gelehrter,Francis S. Collins,David Ginsburg
Publisher : Lippincott Williams & Wilkins
Page : 444 pages
File Size : 46,5 Mb
Release : 1998
Category : Medical
ISBN : 0683034456

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Principles of Medical Genetics by Thomas D. Gelehrter,Francis S. Collins,David Ginsburg Pdf

Author : Guy Bradley-Smith
Publisher : Oxford University Press, USA
Page : 486 pages
File Size : 53,5 Mb
Release : 2010
Category : Medical
ISBN : 9780199545360

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Oxford Handbook of Genetics by Guy Bradley-Smith Pdf

This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.

Author : B.A. Ponder,M.J. Waring
Publisher : Springer Science & Business Media
Page : 222 pages
File Size : 40,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789401106771

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The Genetics of Cancer by B.A. Ponder,M.J. Waring Pdf

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

Author : Stephanie E. Clipper
Publisher : Unknown
Page : 44 pages
File Size : 42,6 Mb
Release : 1998
Category : Huntington's chorea
ISBN : OCLC:39520885

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Huntington's Disease by Stephanie E. Clipper Pdf

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
Page : 982 pages
File Size : 47,7 Mb
Release : 2003
Category : Medical
ISBN : 0781730635

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NORD Guide to Rare Disorders by National Organization for Rare Disorders Pdf

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Author : George A. Padgett
Publisher : Turner Publishing Company
Page : 266 pages
File Size : 52,8 Mb
Release : 2008-05-05
Category : Pets
ISBN : 9780470369920

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Control of Canine Genetic Diseases by George A. Padgett Pdf

If you breed dogs for any reason, you must own this book. Genetic diseases are among the most serious hazards on the landscape of modern dog breeding and one of the most vexing challenges facing today's dog breeders. Is it appropriate to open the gene pool to unwanted conditions in the pursuit of physical perfection, or must breeding to the Standard take a back seat to producing healthy animals? In Control of Canine Genetic Diseases, renowned authority George A. Padgett, DVM, provides an expert road map to help dog breeders everywhere avoid the pitfalls they are almost destined to encounter. For anyone whose goal is to produce healthy, functional and beautiful dogs, this is the book they need. Dr. Padgett provides clear explanations of modes of inheritance, how to conduct and analyze test matings and how to lower the chances of producing affected animals. Numerous tables, diagrams and graphs further enhance the text to facilitate the breeder's understanding. A Howell Dog Book of Distinction

Author : Virginia P. Sybert
Publisher : Oxford University Press
Page : 489 pages
File Size : 55,5 Mb
Release : 2017
Category : Medical
ISBN : 9780190276478

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Genetic Skin Disorders by Virginia P. Sybert Pdf

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

Author : Brigham Narins
Publisher : Gale Cengage
Page : 840 pages
File Size : 46,6 Mb
Release : 2005
Category : Medical
ISBN : PSU:000056246650

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The Gale Encyclopedia of Genetic Disorders by Brigham Narins Pdf

Alphabetical articles provide information on genetic disorders, including conditions, tests, procedures, treatments, and therapies.