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- Noonan Syndrome and Related Disorders
- Author : Martin Zenker
- Publsiher : Karger Medical and Scientific Publishers
- Release : 16 June 2021
- ISBN : 3805586531
- Pages : 167 pages
- Rating : 4/5 from 21 reviews
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Read or download book entitled Noonan Syndrome and Related Disorders written by Martin Zenker which was release on 16 June 2021, this book published by Karger Medical and Scientific Publishers. Available in PDF, EPUB and Kindle Format. Book excerpt: In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these syndromes such as growth failure, heart defects, and tumor risk. Animal models and the relation to neurofibromatosis type 1 are discussed. The final chapter covers the critical area of treatment including prospects emerging from an improved understanding of the pathophysiology of these disorders. Providing a concise overview of a very rapidly developing field and suggesting ways how to integrate the latest findings from basic molecular research into clinical practice, this book will be of interest to clinical geneticists, pediatricians, pediatric cardiologists, and pediatric endocrinologists, as well as to human molecular geneticists and other basic researchers working on the RAS pathway.
- Author : Martin Zenker
- Publisher : Karger Medical and Scientific Publishers
- Release Date : 2009
- Total pages : 167
- ISBN : 3805586531
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Summary : In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries ...
- Author : Amrit P.S. Bhangoo
- Publisher : Academic Press
- Release Date : 2019-05-16
- Total pages : 215
- ISBN : 3805586531
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Summary : Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan ...
- Author : Anonim
- Publisher : ScholarlyEditions
- Release Date : 2012-12-10
- Total pages : 24
- ISBN : 3805586531
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Summary : Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect ...
- Author : Anonim
- Publisher : ScholarlyEditions
- Release Date : 2012-01-09
- Total pages : 24
- ISBN : 3805586531
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Summary : Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect ...
- Author : Anonim
- Publisher : Unknown
- Release Date : 1990
- Total pages : 212
- ISBN : 3805586531
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Summary : Download or read online Cutis written by , published by which was released on 1990. Get Cutis Books now! Available in PDF, ePub and Kindle....
- Author : Hooshang Taybi,Ralph S. Lachman
- Publisher : Unknown
- Release Date : 1990
- Total pages : 933
- ISBN : 3805586531
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Summary : Download or read online Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias written by Hooshang Taybi,Ralph S. Lachman, published by which was released on 1990. Get Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias Books now! Available in PDF, ePub and Kindle....
- Author : Stephen von Tetzchner,Rikshospitalet (Oslo, Norway). Smågruppesenteret
- Publisher : Unknown
- Release Date : 1998
- Total pages : 150
- ISBN : 3805586531
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Summary : Download or read online Noonan Syndrome written by Stephen von Tetzchner,Rikshospitalet (Oslo, Norway). Smågruppesenteret, published by which was released on 1998. Get Noonan Syndrome Books now! Available in PDF, ePub and Kindle....
- Author : Hans-Rudolf Wiedemann,J. Kunze,Jürgen Kunze,Frank-Reiner Grosse
- Publisher : Mosby
- Release Date : 1997
- Total pages : 684
- ISBN : 3805586531
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Summary : The latest edition of this classic reference contains new information on 45 new syndromes and revised text tables that incorporate new classifications and research findings. The book is organized by syndrome, uses the nomenclature of syndromes, and has a diagnostic overview which groups syndromes by symptoms. Provides encyclopaedic coverage of clinical ...
- Author : J. P. Fryns,L. Vanderhauwaert,H. Vandenberghe
- Publisher : Unknown
- Release Date : 1977
- Total pages : 8
- ISBN : 3805586531
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Summary : Download or read online Noonan Syndrome written by J. P. Fryns,L. Vanderhauwaert,H. Vandenberghe, published by which was released on 1977. Get Noonan Syndrome Books now! Available in PDF, ePub and Kindle....
- Author : Eugene Braunwald
- Publisher : Unknown
- Release Date : 1984
- Total pages : 1844
- ISBN : 3805586531
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Summary : Download or read online Heart Disease written by Eugene Braunwald, published by which was released on 1984. Get Heart Disease Books now! Available in PDF, ePub and Kindle....
- Author : Ted L. Tewfik,Vazken M. Der Kaloustian
- Publisher : Unknown
- Release Date : 1997
- Total pages : 579
- ISBN : 3805586531
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Summary : The modern assessment, understanding, management, and prevention of congenital anomalies of the ear, nose, and throat require a multi-disciplinary approach. This book provides a complete coverage of the subject in a precise manner, bridging the gaps between the disciplines of genetics, otolaryngology, plastic surgery, and pediatrics. It is divided into ...
- Author : Anonim
- Publisher : Unknown
- Release Date : 1998-07
- Total pages : 212
- ISBN : 3805586531
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Summary : Download or read online Otolaryngology head and Neck Surgery written by , published by which was released on 1998-07. Get Otolaryngology head and Neck Surgery Books now! Available in PDF, ePub and Kindle....
- Author : Daniel Bergsma
- Publisher : Unknown
- Release Date : 1969
- Total pages : 212
- ISBN : 3805586531
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Summary : Download or read online The First Conference on the Clinical Delineation of Birth Defects Phenotypic aspects of chromosomal aberrations written by Daniel Bergsma, published by which was released on 1969. Get The First Conference on the Clinical Delineation of Birth Defects Phenotypic aspects of chromosomal aberrations Books now! Available in PDF, ...
- Author : Sandra J. Judd
- Publisher : Omnigraphics Incorporated
- Release Date : 2010
- Total pages : 759
- ISBN : 3805586531
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Summary : From the Publisher: Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, genetic testing, treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources....
- Author : Patricia Gilbert
- Publisher : Singular
- Release Date : 1993
- Total pages : 259
- ISBN : 3805586531
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Summary : Overview of clinical aspects physical/cognitive/social development coping strategies quality of life issues....
