Limit search to available items
Book Cover
E-book

Title Noonan syndrome and related disorders : a matter of deregulated ras signaling / volume editor, Martin Zenker
Published Basel ; New York : Karger, 2009

Copies

Description 1 online resource
Series Monographs in human genetics, 0077-0876 ; v. 17
Monographs in human genetics ; v. 17.
Contents History of Noonan syndrome and related disorders / J.A. Noonan -- The clinical phenotype of Noonan syndrome / J.E. Allanson -- Molecular genetics of Noonan syndrome / M. Tartaglia, B.D. Gelb -- Genotype-phenotype correlations in Noonan syndrome / A. Sarkozy [and others] -- LEOPARD syndrome : clinical aspects and molecular pathogenesis / A. Sarkozy [and others] -- The clinical phenotype of cardiofaciocutaneous syndrome (CFC) / A.E. Roberts -- Molecular causes of the cardio-facio-cutaneous syndrome / W.E. Tidyman, K.A. Rauen -- The clinical phenotype of Costello syndrome / B. Kerr -- The molecular basis of Costello syndrome / K. Sol-Church, K.W. Gripp -- Endocrine regulation of growth and short stature in Noonan syndrome / G. Binder -- The heart in ras-MAPK pathway disorders / M.C. Digilio [and others] -- Myeloproliferative disease and cancer in persons with Noonan syndrome and related disorders / C. Kratz -- Neurofibromatosis type 1-Noonan syndrome : what's the link? / E. Denayer, E. Legius -- Animal models for Noonan syndrome and related disorders / T. Araki, B.G. Neel -- Towards a treatment for ras-MAPK pathway disorders / V.A. Joshi [and others]
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 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
Bibliography Includes bibliographical references and indexes
Notes Print version record
Subject Genetic disorders.
Ras oncogenes.
Ras proteins.
Cellular signal transduction.
Noonan Syndrome -- genetics
Genetic Diseases, Inborn
Genes, ras
ras Proteins
Noonan Syndrome -- physiopathology
ras Proteins -- genetics
Signal Transduction
HEALTH & FITNESS -- Diseases -- Genetic.
MEDICAL -- Genetics.
Cellular signal transduction
Genetic disorders
Ras oncogenes
Ras proteins
Noonan-Syndrom -- Aufsatzsammlung.
Form Electronic book
Author Zenker, Martin.
S. Karger (Firm)
ISBN 9783805586542
380558654X
3805586531
9783805586535