Tuberous Sclerosis Complex

Author : Manuel Rodriguez Gomez,Julian R. Sampson,Vicky Holets Whittemore
Publisher : Oxford University Press
Page : 365 pages
File Size : 54,7 Mb
Release : 1999-07-15
Category : Medical
ISBN : 9780198028475

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Tuberous Sclerosis Complex by Manuel Rodriguez Gomez,Julian R. Sampson,Vicky Holets Whittemore Pdf

Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes sever mental retardation. Infants with this disease may appear overactive, autistic, or socially impaired. Because tuberous sclerosis involves abnormal cellular differentiation, aberrant neuronal migration, and excessive cell proliferation, this thoroughly revised edition will be of interest to a wide range of professionals involved in the study of biological mechanisms underlying many genetically determined neurological disorders.

Author : David J. Kwiatkowski,Vicky Holets Whittemore,Elizabeth A. Thiele
Publisher : John Wiley & Sons
Page : 415 pages
File Size : 48,8 Mb
Release : 2011-08-24
Category : Science
ISBN : 9783527644674

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Tuberous Sclerosis Complex by David J. Kwiatkowski,Vicky Holets Whittemore,Elizabeth A. Thiele Pdf

The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.

Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Page : 1104 pages
File Size : 43,5 Mb
Release : 2021-01-27
Category : Science
ISBN : 9781119432678

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Cassidy and Allanson's Management of Genetic Syndromes by John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil Pdf

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Author : Sergiusz Jozwiak,Paolo Curatolo
Publisher : Frontiers Media SA
Page : 178 pages
File Size : 49,5 Mb
Release : 2021-11-30
Category : Medical
ISBN : 9782889717330

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Tuberous Sclerosis Complex - Diagnosis and Management by Sergiusz Jozwiak,Paolo Curatolo Pdf

Author : Paolo Curatolo
Publisher : Cambridge University Press
Page : 332 pages
File Size : 47,7 Mb
Release : 2003-01-10
Category : Medical
ISBN : 1898683395

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Tuberous Sclerosis Complex by Paolo Curatolo Pdf

Correlating new genetic data and basic science regarding tuberous sclerosis, this collection covers clinical presentation; reviews history and current diagnostic criteria; and notes recent advances in neuropathology, molecular genetics and neurobiology. Tuberous sclerosis incorporates malformations characterized by disturbances in cellular differentiation and growth. It appears with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism.

Author : Adekunle M. Adesina,Tarik Tihan,Christine E. Fuller,Tina Young Poussaint
Publisher : Springer
Page : 349 pages
File Size : 46,7 Mb
Release : 2016-10-03
Category : Medical
ISBN : 9783319334325

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Atlas of Pediatric Brain Tumors by Adekunle M. Adesina,Tarik Tihan,Christine E. Fuller,Tina Young Poussaint Pdf

This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.

Author : Patricia Treadwell,Michael Lee Smith,Julie Prendiville
Publisher : Springer Nature
Page : 112 pages
File Size : 40,7 Mb
Release : 2020-12-03
Category : Medical
ISBN : 9783030586348

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Atlas of Adolescent Dermatology by Patricia Treadwell,Michael Lee Smith,Julie Prendiville Pdf

Valuable to dermatologists, adolescent medicine specialists, family medicine practitioners, and primary care physicians, the Atlas of Adolescent Dermatology presents a concise and practical guide to the diagnosis and management of adolescent skin diseases. Each chapter follows a similar format, to assist in ease of reference, and contains information on diagnosis and management. The various chapters include conditions such as Acne, Seborrheic Dermatitis, Eczema, Scabies, Contact Dermatitis, and selected Genodermatoses.

Author : Anonim
Publisher : ScholarlyEditions
Page : 43 pages
File Size : 48,6 Mb
Release : 2012-01-09
Category : Medical
ISBN : 9781464906817

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Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition by Anonim Pdf

Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Tuberous Sclerosis in a concise format. The editors have built Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Tuberous Sclerosis in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Author : Anonim
Publisher : Unknown
Page : 212 pages
File Size : 40,7 Mb
Release : 1999
Category : Tuberous sclerosis
ISBN : 0967310008

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Living with tuberous sclerosis by Anonim Pdf

A compilation of 26 biographies and 6 autobiographies of children and adults living normal lives despite having tuberous sclerosis.

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
Page : 982 pages
File Size : 48,8 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 : Institute of Medicine,Committee to Review the Adverse Consequences of Pertussis and RubellaVaccines
Publisher : National Academies Press
Page : 382 pages
File Size : 46,6 Mb
Release : 1991-01-01
Category : Medical
ISBN : 9780309044998

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Adverse Effects of Pertussis and Rubella Vaccines by Institute of Medicine,Committee to Review the Adverse Consequences of Pertussis and RubellaVaccines Pdf

Parents have come to depend on vaccines to protect their children from a variety of diseases. Some evidence suggests, however, that vaccination against pertussis (whooping cough) and rubella (German measles) is, in a small number of cases, associated with increased risk of serious illness. This book examines the controversy over the evidence and offers a comprehensively documented assessment of the risk of illness following immunization with vaccines against pertussis and rubella. Based on extensive review of the evidence from epidemiologic studies, case histories, studies in animals, and other sources of information, the book examines: The relation of pertussis vaccines to a number of serious adverse events, including encephalopathy and other central nervous system disorders, sudden infant death syndrome, autism, Guillain-Barre syndrome, learning disabilities, and Reye syndrome. The relation of rubella vaccines to arthritis, various neuropathies, and thrombocytopenic purpura. The volume, which includes a description of the committee's methods for evaluating evidence and directions for future research, will be important reading for public health officials, pediatricians, researchers, and concerned parents.

Author : William Gessner Johnson,Manuel R. Gomez
Publisher : Unknown
Page : 446 pages
File Size : 42,5 Mb
Release : 1991
Category : Medical
ISBN : STANFORD:36105035321525

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Tuberous Sclerosis and Allied Disorders by William Gessner Johnson,Manuel R. Gomez Pdf

Author : Stephen H. Tsang,Tarun Sharma
Publisher : Springer
Page : 274 pages
File Size : 52,7 Mb
Release : 2018-12-21
Category : Medical
ISBN : 9783319950464

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Atlas of Inherited Retinal Diseases by Stephen H. Tsang,Tarun Sharma Pdf

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Author : Manuel R. Gomez
Publisher : Raven Press (ID)
Page : 298 pages
File Size : 53,9 Mb
Release : 1988
Category : Tuberous sclerosis
ISBN : UOM:39015012579390

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Tuberous Sclerosis by Manuel R. Gomez Pdf

Author : Martino Ruggieri,Ignacio Pascual Castroviejo,Concezio Di Rocco
Publisher : Springer Science & Business Media
Page : 1052 pages
File Size : 45,9 Mb
Release : 2009-10-01
Category : Medical
ISBN : 9783211695005

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Neurocutaneous Disorders by Martino Ruggieri,Ignacio Pascual Castroviejo,Concezio Di Rocco Pdf

The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.