Genetic Disorders Of The Skin

Author : Virginia P. Sybert
Publisher : Oxford University Press
Page : 489 pages
File Size : 45,6 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 : Fred M. Novice
Publisher : Saunders
Page : 734 pages
File Size : 50,6 Mb
Release : 1994
Category : Medical
ISBN : UOM:39015032933809

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Handbook of Genetic Skin Disorders by Fred M. Novice Pdf

This text provides a clinical overview of the diagnosis of hereditary diseases of the skin, hair, and mucous membranes. Key features and references for a wide variety of hereditary skin disorders are presented in a convenient format. Each disease is discussed according to its symptoms; clinical findings found in the skin, mucous membranes, hair, nails or teeth; non-skin findings; epidemiology; pathophysiology; comparison/contrast to related diseases; treatment and prognosis, mnemonics to assist in memorization of important facts; and references.

Author : V. M. Der Kaloustian,A. K. Kurban
Publisher : Springer Science & Business Media
Page : 563 pages
File Size : 47,8 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642671524

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Genetic Diseases of the Skin by V. M. Der Kaloustian,A. K. Kurban Pdf

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.

Author : Joel L. Spitz
Publisher : Lippincott Williams & Wilkins
Page : 468 pages
File Size : 45,7 Mb
Release : 2005
Category : Medical
ISBN : 0781740886

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Genodermatoses by Joel L. Spitz Pdf

"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].

Author : Virginia Sybert
Publisher : Oxford University Press
Page : 1240 pages
File Size : 48,5 Mb
Release : 2010-06-09
Category : Medical
ISBN : 9780190453282

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Genetic Skin Disorders by Virginia Sybert Pdf

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.

Author : Heiko Traupe
Publisher : Springer Science & Business Media
Page : 270 pages
File Size : 40,5 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9783642736506

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The Ichthyoses by Heiko Traupe Pdf

It is a great pleasure for me to see this work in print. As outlined by Dr. Traupe, at least 20 different types of ichthyosis have been identified to date. This book will effectively help to establish a correct diagnosis, as a basis for genetic counseling. Dr. Traupe proposes a new classification of the ichthyoses, based on reason able clinical criteria. He lets the reader share in his enormous knowledge and safely guides him through the difficult field of nomenclature. He describes the particular nature of these scaling disorders in a manner as simple as possible. During the last few years, research on ichthyosis has become a fascinating scientific challenge due to the introduction of novel investigative approaches. The main advantage of this book lies in the fact that the author successfully combines recent achievements made in lipid analysis, enzymology, electron microscopy, and molecular genetics. Heiko Traupe began his career in dermatology 11 years ago, as a resident in the Department of Dermatology in Munster. As we were both interested in the genetic aspects of skin diseases, this was the starting point of a most fruitful collaboration, which is still continuing. During our common work in Munster, Dr. Traupe was able, thanks to his unceasing clinical curiosity, to describe many novel aspects within the field of ichthyosis, and I took pride in coauthoring papers on new items such as cryptorchidism as a fea ture associated with X-linked recessive ichthyosis, autosomal dominant lamellar ichthyosis, and alopecia ichthyotica.

Author : Joseph C. Alper
Publisher : Mosby Elsevier Health Science
Page : 404 pages
File Size : 47,7 Mb
Release : 1991
Category : Medical
ISBN : UOM:39015018891955

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Genetic Disorders of the Skin by Joseph C. Alper Pdf

Author : James Wynbrandt,Mark D. Ludman
Publisher : Infobase Publishing
Page : 705 pages
File Size : 44,7 Mb
Release : 2010-05-12
Category : Juvenile Nonfiction
ISBN : 9781438120959

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The Encyclopedia of Genetic Disorders and Birth Defects by James Wynbrandt,Mark D. Ludman Pdf

Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Author : Joel L. Spitz
Publisher : Lippincott Williams & Wilkins
Page : 420 pages
File Size : 45,7 Mb
Release : 2015-04-24
Category : Electronic
ISBN : 1451166842

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Genodermatoses by Joel L. Spitz Pdf

Featuring over 300 full-color illustrations and a unique format designed to aid in retaining information, this user-friendly guide to genetic skin disorders is ideal for board preparation and clinical reference for dermatologists, pediatricians, or any practitioner interested in this area. Each syndrome is presented on a two-page spread. Full body diagrams and clinical photographs appear on one page. Bulleted text on the facing page summarizes patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis. Boxed clinical pearls from invited experts are also included. All information has been updated for this edition, including new syndromes and illustrations.

Author : F. Blasi
Publisher : Unknown
Page : 696 pages
File Size : 43,9 Mb
Release : 1986-10-03
Category : Medical
ISBN : STANFORD:36105032411253

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Human Genes and Disease by F. Blasi Pdf

Author : Louanne Hudgins,Helga V. Toriello,Gregory M. Enns,H. Eugene Hoyme
Publisher : Oxford University Press, USA
Page : 561 pages
File Size : 53,9 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 : Peter Beighton
Publisher : Unknown
Page : 216 pages
File Size : 46,9 Mb
Release : 1970
Category : Ehlers-Danlos syndrome
ISBN : UOM:39015010651605

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The Ehlers-Danlos Syndrome by Peter Beighton Pdf

Ehlers-Danlos Syndrom.

Author : Sherri J. Bale
Publisher : Remedica Pub Limited
Page : 230 pages
File Size : 40,9 Mb
Release : 2000-01-01
Category : Medical
ISBN : 1901346102

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Genetics for Dermatologists by Sherri J. Bale Pdf

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.

Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Page : 419 pages
File Size : 41,5 Mb
Release : 2007-11-10
Category : Medical
ISBN : 9781597450393

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Genomic Disorders by James R. Lupski,Pawel T. Stankiewicz Pdf

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Author : Bruce Smoller,Nooshin Bagherani
Publisher : Springer
Page : 0 pages
File Size : 41,7 Mb
Release : 2021-10-07
Category : Medical
ISBN : 3319538101

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Atlas of Dermatology, Dermatopathology and Venereology by Bruce Smoller,Nooshin Bagherani Pdf

Bringing together thousands of the best dermatologic clinical and pathological photographs and figures from researchers and scientists around the world, this volume focuses on the most prevalent dermatologic disorders as they relate to cutaneous infectious and neoplastic conditions and procedural dermatology. It includes atypical presentations of various disorders, giving insight into differential diagnoses, helping to familiarize the reader with some of the rarest dermatologic disorders. Atlas of Dermatology, Dermatopathology and Venereology Volume 3 is written for dermatologists, dermatopathologists, and residents and summarizes data regarding any dermatologic disorder and syndrome. Each entry includes an introduction, clinical and pathological manifestations, diagnosis, differential diagnosis, and treatment and prognosis. div>/div/div/div