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Genetic Skin Disorders

Genetic Skin Disorders
Author: Virginia Sybert
Publisher: Oxford University Press
Total Pages: 785
Release: 2010-06-09
Genre: Medical
ISBN: 0199774404

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This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest. The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.


Current Genetics in Dermatology

Current Genetics in Dermatology
Author: Naoki Oiso
Publisher: BoD – Books on Demand
Total Pages: 172
Release: 2013-02-06
Genre: Medical
ISBN: 9535109715

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This book presents current topics in genetics in the dermatologic field. Various skin disorders are inherited as mendelian inheritance. Genetic skin disorders are caused by mutations in the genes encoding proteins expressing in skin, skin appendages, melanocytes and immune-associated cells. Identification of genes and elucidation of function of the encoded proteins may provide novel strategies to overcome the disorders. We hope that this book offers sufficient current information in each disorder to scientists, physicians and dermatologists, and that novel therapies will be provided to affected individuals via these chapters.


Genetics for Dermatologists

Genetics for Dermatologists
Author: Sherri J. Bale
Publisher: Remedica Pub Limited
Total Pages: 230
Release: 2000-01-01
Genre: Medical
ISBN: 9781901346107

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During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many dermatological disorders, and such information is already beginning to impact on clinical practice. This book provides dermatologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic dermatological disorders. Each disease is reviewed in an identical manner: clinical features, etc. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. Aimed primarily at dermatologists, this book also provides much of interest to clinical geneticists and genetic counsellors. With its quick reference format, Genetics for Dermatologists will be readily appreciated by busy practitioners.


Genodermatoses

Genodermatoses
Author: Joel L. Spitz
Publisher: Lippincott Williams & Wilkins
Total Pages: 468
Release: 2005
Genre: Medical
ISBN: 9780781740883

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"Aimed at dermatologists, pediatricians and family physicians, this resource can be used for both board preparation and clinical practice. Each syndrome is presented in easy-to-read, two-page spreads that include full body diagrams and clinical photographs. The material is summarized in bulleted text that lists the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, lab findings, management and prognosis. Clinical pearls are interspersed through the text. This second edition updates previous chapters and includes new syndromes, such as PHACE, AEC, EEC, Griscelli and Birt-Hogg-Dube. Annotation : 2004 Book News, Inc., Portland, OR (booknews.com)"--[source inconnue].


Dermatology: Genetics and Novel Findings

Dermatology: Genetics and Novel Findings
Author: Deb Willis
Publisher:
Total Pages: 0
Release: 2015-01-15
Genre:
ISBN: 9781632421074

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The book provides comprehensive information highlighting recent developments in the field of dermatology. Several distinct skin diseases are inherited as Mendelian inheritance. The cause of genetic skin disorders is mutations in the genes encoding proteins expressing in skin, melanocytes, skin appendages and immune-related cells. Recognition of genes and explanation of function of the encoded proteins may provide latest techniques to tackle the disorders. The aim of this book is to provide latest information regarding every disorder to physicians, dermatologists and scientists, and offer new therapies to affected individuals.


Genetic Skin Disorders

Genetic Skin Disorders
Author: Virginia P. Sybert
Publisher: Oxford University Press
Total Pages: 489
Release: 2017
Genre: Medical
ISBN: 0190276479

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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


Dermatology and the New Genetics

Dermatology and the New Genetics
Author: Celia Moss
Publisher: Wiley-Blackwell
Total Pages: 208
Release: 1995-07-12
Genre: Medical
ISBN: 9780632035823

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Dermatologists, unlike, for instance, haematologists, are not generally trained in high science and tend to be unfamiliar with the language of the "New Genetics". Lacking an interpreter, they can neither understand nor exploit the exciting developments in this field. This two-author volume gives a straight-forward and uniform account of the subject. Relevant and accessible to clinical dermatologists, the text begins with a refresher course in simple background genetics and the development of skin in this context. It goes on, in the two largest sections of the book, to look at the genetics of epidermal and dermal skin disorders; each of these sections is divided into groups of conditions. The final section describes antenatal diagnosis, counselling and gene therapy. The theme of this book is to bridge the gap between clinical dermatology and the new genetics. It provides a straightforward and uniform account of the subject, relevant and accessible to clinical dermatologists, beginning with a refresher course in simple background genetics and the development of skin in this context


Genetic Diseases of the Skin

Genetic Diseases of the Skin
Author: V. M. Der Kaloustian
Publisher: Springer Science & Business Media
Total Pages: 563
Release: 2012-12-06
Genre: Medical
ISBN: 3642671527

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The two organs of the body most accessible to examination are the eye and the skin and its appendages. That is why, it is said, ophthalmological genetics is in such flourishing good health. Dermatological genetics does not seem to have benefited so much from the skin being on the outside, and there are but few dermatological counterparts to the volumes of Sorsby, Waardenburg, Franceschetti and Franr,;ois, among others. But thanks to the growing interest in medical genetics, and the modern sophisticated tech niques of molecular, biochemical, and ultrastructural examination, der matology is beginning to catch up, as the appearance of this volume testifies. Because of the growing body of knowledge and the heightened awareness of genetics by both patients and physicians, dermatologists not only will be asked more often about the inheritance of skin conditions they diagnose but increasingly will have the opportunity to diagnose a variety of inborn errors and syndromes by their dermatologic manifestations. On the other hand, syndromologists, clinical geneticists, and physicians are continually seeing patients with diagnostic clues in the skin that they must be able to appreciate. For both groups this book will be a new and valuable source of help. Spring 1979 F. CLARKE FRASER, Ph.D., M.D.


Current Genetics in Dermatology

Current Genetics in Dermatology
Author: Naoki Oiso
Publisher: IntechOpen
Total Pages: 170
Release: 2013-02-06
Genre: Medical
ISBN: 9789535109716

Download Current Genetics in Dermatology Book in PDF, ePub and Kindle

This book presents current topics in genetics in the dermatologic field. Various skin disorders are inherited as mendelian inheritance. Genetic skin disorders are caused by mutations in the genes encoding proteins expressing in skin, skin appendages, melanocytes and immune-associated cells. Identification of genes and elucidation of function of the encoded proteins may provide novel strategies to overcome the disorders. We hope that this book offers sufficient current information in each disorder to scientists, physicians and dermatologists, and that novel therapies will be provided to affected individuals via these chapters.


Genetic Skin Disorders

Genetic Skin Disorders
Author: Virginia P. Sybert
Publisher: Oxford University Press
Total Pages: 512
Release: 2017-01-02
Genre: Medical
ISBN: 0190276487

Download Genetic Skin Disorders Book in PDF, ePub and Kindle

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