Noonan Syndrome and Related Disorders

Written By Martin Zenker
Noonan Syndrome and Related Disorders
  • Publsiher : Karger Medical and Scientific Publishers
  • Release : 25 June 2022
  • 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 25 June 2022, 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.

Noonan Syndrome and Related Disorders

Noonan Syndrome and Related Disorders
  • 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 ...

Noonan Syndrome

Noonan Syndrome
  • 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 ...

Noonan Syndrome New Insights for the Healthcare Professional 2012 Edition

Noonan Syndrome  New Insights for the Healthcare Professional  2012 Edition
  • 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 ...

Multiple Congenital Anomalies

Multiple Congenital Anomalies
  • Author : Robin M. Winter,Michael Baraitser
  • Publisher : Springer
  • Release Date : 2013-12-20
  • Total pages : 1430
  • ISBN : 3805586531
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Summary : The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. ...

Preventive Management of Children with Congenital Anomalies and Syndromes

Preventive Management of Children with Congenital Anomalies and Syndromes
  • Author : Golder N. Wilson,Golder Wilson,W. Carl Cooley
  • Publisher : Cambridge University Press
  • Release Date : 2000-06-15
  • Total pages : 539
  • ISBN : 3805586531
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Summary : CD contains copies of the checklists in the text along with additional supplementary material....

Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes
  • Author : Helga V. Toriello,Shelley D. Smith
  • Publisher : Oxford University Press
  • Release Date : 2013-06-20
  • Total pages : 576
  • ISBN : 3805586531
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Summary : This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular ...

Current Indications for Growth Hormone Therapy

Current Indications for Growth Hormone Therapy
  • Author : Peter C. Hindmarsh
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 1999
  • Total pages : 161
  • ISBN : 3805586531
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Summary : Breaking new ground in terms of scientific analysis, this book addresses the question of who benefits most from treatment with recombinant human growth hormone. Outlined at the beginning of this book are the principles of evidence-based medicine along with a critical appraisal of the statistical issues that lie at the ...

Pediatric Endocrinology

Pediatric Endocrinology
  • Author : Sally Radovick,Madhusmita Misra
  • Publisher : Springer
  • Release Date : 2018-04-11
  • Total pages : 882
  • ISBN : 3805586531
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Summary : A state-of-the-art and concise resource presenting the clinical management of pediatric endocrine diseases and disorders, this third edition of the highly regarded textbook covers the most common and challenging conditions seen by practicing endocrinologists and primary care physicians, including growth, hypothalamic, pituitary, adrenal, thyroid, calcium and bone, and reproductive disorders, ...

Neonatal Dermatology E Book

Neonatal Dermatology E Book
  • Author : Lawrence F. Eichenfield,Ilona J. Frieden,Erin Mathes,Andrea Zaenglein,Nancy B. Esterly
  • Publisher : Elsevier Health Sciences
  • Release Date : 2007-12-20
  • Total pages : 584
  • ISBN : 3805586531
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Summary : Comprehensive and heavily illustrated, this is a unique reference for anyone involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. In addition to over 500 superb photographs of normal and abnormal skin conditions, this latest edition also includes new algorithms, new tables, and new care plans. Simple ...

Cardiovascular Development and Congenital Malformations

Cardiovascular Development and Congenital Malformations
  • Author : Michael Artman,D. Woodrow Benson,Deepak Srivastava,Makoto Nakazawa
  • Publisher : John Wiley & Sons
  • Release Date : 2008-04-15
  • Total pages : 320
  • ISBN : 3805586531
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Summary : Congenital cardiovascular malformations are the single most common form of birth defect. Therefore a better understanding of the mechanisms involved in both normal cardiac development and the formation of cardiovascular structural defects is of tremendous importance. This book brings together the leading scientists from around the world who are actively ...

Smith s Recognizable Patterns of Human Malformation E Book

Smith s Recognizable Patterns of Human Malformation   E Book
  • Author : Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo
  • Publisher : Elsevier Health Sciences
  • Release Date : 2021-03-02
  • Total pages : 1074
  • ISBN : 3805586531
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Summary : Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of ...

Yearbook of Pediatric Endocrinology 2008

Yearbook of Pediatric Endocrinology 2008
  • Author : Jean-Claude Carel,Z. Hochberg
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2008-01-01
  • Total pages : 239
  • ISBN : 3805586531
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Summary : The body of knowledge in most medical specialties is rapidly expanding, making it virtually impossible to follow all advances in clinical and basic sciences that are relevant to a given field. This is particularly true in pediatric endocrinology, at the cross-road of pediatrics, endocrinology, development and genetics.The 'Yearbook of ...

Congenital Heart Defects

Congenital Heart Defects
  • Author : Diego F. Wyszynski,Adolfo Correa-Villaseñor
  • Publisher : Oxford University Press, USA
  • Release Date : 2010
  • Total pages : 540
  • ISBN : 3805586531
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Summary : "Covering all aspects of CHDs, the chapters include important discussions on development, epidemiology, genetics, diagnosis, management, and prevention of these birth defects, as well as coverage of public health issues such as environmental risk factors and healthcare costs related to CHDs. This book will be of interest to geneticists, epidemiologists, ...

Critical Heart Disease in Infants and Children E Book

Critical Heart Disease in Infants and Children E Book
  • Author : Ross M. Ungerleider,Kristen Nelson,David S Cooper,Jon Meliones,Jeffrey Jacobs
  • Publisher : Elsevier Health Sciences
  • Release Date : 2018-09-26
  • Total pages : 960
  • ISBN : 3805586531
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Summary : Features comprehensive updates throughout the text, including indications, techniques, potential complications in perioperative management of patients, and surgical techniques for congenital heart disease. Covers recent advances in the treatment of pulmonary hypertension, developments in mechanical assist devices, heart and lung transplantation, and interventional cardiac catheterization. Features an all-new, full-color format ...

Transduction Mechanisms in Cellular Signaling

Transduction Mechanisms in Cellular Signaling
  • Author : Edward A. Dennis,Ralph A. Bradshaw
  • Publisher : Academic Press
  • Release Date : 2011-04-04
  • Total pages : 610
  • ISBN : 3805586531
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Summary : Cytosol, the liquid found inside cells, is the site for multiple cell processes, including signaling from the cell membrane to sites within the cell. Cytosolic signaling mechanisms are researched and studied in graduate programs in cell biology, molecular biology, biochemistry, pharmacology, molecular and cellular physiology, pharmacy, and biomedical sciences. Articles ...