Verfügbarkeit: Noonan syndrome and related disorders

Noonan syndrome and related disorders: a matter of deregulated ras signaling

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 overv...

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Weitere Verfasser:	Zenker, Martin (HerausgeberIn)
Format:	Elektronisch E-Book
Sprache:	English
Veröffentlicht:	Basel Karger 2009
Schriftenreihe:	Monographs in human genetics Vol. 17
Schlagworte:	Genetics Pediatrics Cardiovascular System Human Genetics Leukemia Molecular Biology Pediatric Endocrinology Ras-Proteine Noonan-Syndrom Pathophysiologie MAP-Kinase Molekularbiologie Signaltransduktion Aufsatzsammlung
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Zusammenfassung:	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
Beschreibung:	1 Online-Ressource (X, 168 Seiten) Illustrationen, Diagramme
ISBN:	9783805586542

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genre	(DE-588)4143413-4 Aufsatzsammlung gnd-content
genre_facet	Aufsatzsammlung
id	DE-604.BV036069281
illustrated	Not Illustrated
indexdate	2024-08-01T11:41:42Z
institution	BVB
isbn	9783805586542
language	English
oai_aleph_id	oai:aleph.bib-bvb.de:BVB01-018960586
oclc_num	837655931
open_access_boolean
owner	DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-355 DE-BY-UBR DE-20 DE-1102 DE-1028 DE-573 DE-859 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-521 DE-522 DE-526 DE-12 DE-11 DE-83 DE-M382 DE-70 DE-578 DE-1046
owner_facet	DE-384 DE-473 DE-BY-UBG DE-703 DE-29 DE-19 DE-BY-UBM DE-91 DE-BY-TUM DE-739 DE-355 DE-BY-UBR DE-20 DE-1102 DE-1028 DE-573 DE-859 DE-M347 DE-1049 DE-92 DE-898 DE-BY-UBR DE-863 DE-BY-FWS DE-862 DE-BY-FWS DE-128 DE-54 DE-22 DE-BY-UBG DE-150 DE-155 DE-BY-UBR DE-521 DE-522 DE-526 DE-12 DE-11 DE-83 DE-M382 DE-70 DE-578 DE-1046
physical	1 Online-Ressource (X, 168 Seiten) Illustrationen, Diagramme
psigel	ZDB-1-KEB
publishDate	2009
publishDateSearch	2009
publishDateSort	2009
publisher	Karger
record_format	marc
series	Monographs in human genetics
series2	Monographs in human genetics
spellingShingle	Noonan syndrome and related disorders a matter of deregulated ras signaling Monographs in human genetics Genetics Pediatrics Cardiovascular System Human Genetics Leukemia Molecular Biology Pediatric Endocrinology Ras-Proteine (DE-588)4323989-4 gnd Noonan-Syndrom (DE-588)4171991-8 gnd Pathophysiologie (DE-588)4044898-8 gnd MAP-Kinase (DE-588)4576144-9 gnd Molekularbiologie (DE-588)4039983-7 gnd Signaltransduktion (DE-588)4318717-1 gnd
subject_GND	(DE-588)4323989-4 (DE-588)4171991-8 (DE-588)4044898-8 (DE-588)4576144-9 (DE-588)4039983-7 (DE-588)4318717-1 (DE-588)4143413-4
title	Noonan syndrome and related disorders a matter of deregulated ras signaling
title_auth	Noonan syndrome and related disorders a matter of deregulated ras signaling
title_exact_search	Noonan syndrome and related disorders a matter of deregulated ras signaling
title_full	Noonan syndrome and related disorders a matter of deregulated ras signaling volume editor: Martin Zenker
title_fullStr	Noonan syndrome and related disorders a matter of deregulated ras signaling volume editor: Martin Zenker
title_full_unstemmed	Noonan syndrome and related disorders a matter of deregulated ras signaling volume editor: Martin Zenker
title_short	Noonan syndrome and related disorders
title_sort	noonan syndrome and related disorders a matter of deregulated ras signaling
title_sub	a matter of deregulated ras signaling
topic	Genetics Pediatrics Cardiovascular System Human Genetics Leukemia Molecular Biology Pediatric Endocrinology Ras-Proteine (DE-588)4323989-4 gnd Noonan-Syndrom (DE-588)4171991-8 gnd Pathophysiologie (DE-588)4044898-8 gnd MAP-Kinase (DE-588)4576144-9 gnd Molekularbiologie (DE-588)4039983-7 gnd Signaltransduktion (DE-588)4318717-1 gnd
topic_facet	Genetics Pediatrics Cardiovascular System Human Genetics Leukemia Molecular Biology Pediatric Endocrinology Ras-Proteine Noonan-Syndrom Pathophysiologie MAP-Kinase Molekularbiologie Signaltransduktion Aufsatzsammlung
url	https://karger.com/books/book/2630
volume_link	(DE-604)BV039154956
work_keys_str_mv	AT zenkermartin noonansyndromeandrelateddisordersamatterofderegulatedrassignaling

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