大葉大學圖書館 |

Noonan syndrome and related disorders[electronic resource] :a matter of deregulated ras signaling /

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
杜威分類號:	616/.042
書名/作者:	Noonan syndrome and related disorders : a matter of deregulated ras signaling // volume editor, Martin Zenker.
其他作者:	Zenker, Martin.
出版者:	Basel : : S. Karger,, 2009
面頁冊數:	1 online resource : : ill. (some col.)
附註:	From basic molecular research to clinical practice
標題:	Genetic disorders.
標題:	Ras oncogenes.
標題:	Ras proteins.
標題:	Noonan Syndrome - genetics.
標題:	Noonan Syndrome - physiopathology.
標題:	Signal Transduction.
標題:	ras Proteins - genetics.
ISBN:	9783805586542
書目註:	Includes bibliographical references and indexes.
摘要、提要註:	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.
電子資源:	http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019

Noonan syndrome and related disorders[electronic resource] :a matter of deregulated ras signaling /
Noonan syndrome and related disordersa matter of deregulated ras signaling /[electronic resource] :volume editor, Martin Zenker. - Basel :S. Karger,2009 - 1 online resource :ill. (some col.) - Monographs in human genetics,v.171662-3835 ;. - Monographs in human genetics ;v.17..

From basic molecular research to clinical practice

Includes bibliographical references and indexes.

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.

ISBN: 9783805586542Subjects--Topical Terms:

342495
Genetic disorders.

LC Class. No.: RB155.5 / .N66 2009

Dewey Class. No.: 616/.042

National Library of Medicine Call No.: W1 / MO567P v.17 2009

Noonan syndrome and related disorders[electronic resource] :a matter of deregulated ras signaling /
LDR:02358cam a2200277 a 4500 001 350399
003 SZ-BaSKA
005 20110603112133.0
006 m d
007 cr cn|||||||||
008 111219s2009 sz a ob 001 0 eng d
020 $a 9783805586542
035 $a 239019
040 $a szbaska
050 0 0 $a RB155.5 $b .N66 2009
050 4 $a QH431 $b .M554 v. 17
060 0 0 $a W1 $b MO567P v.17 2009
060 1 0 $a WD 375 $b N817 2009
082 0 0 $a 616/.042 $2 22
245 0 0 $a Noonan syndrome and related disorders $h [electronic resource] : $b a matter of deregulated ras signaling / $c volume editor, Martin Zenker.
260 $a Basel : $b S. Karger, $c 2009
300 $a 1 online resource : $b ill. (some col.)
490 1 $a Monographs in human genetics, $x 1662-3835 ; $v v.17
500 $a From basic molecular research to clinical practice
504 $a Includes bibliographical references and indexes.
520 $a 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.
650 0 $a Genetic disorders. $3 342495
650 0 $a Ras oncogenes. $3 438639
650 0 $a Ras proteins. $3 438640
650 1 2 $a Noonan Syndrome $x genetics. $3 438641
650 2 2 $a Noonan Syndrome $x physiopathology. $3 438642
650 2 2 $a Signal Transduction. $3 416413
650 2 2 $a ras Proteins $x genetics. $3 438643
700 1 $a Zenker, Martin. $3 438637
830 0 $a Monographs in human genetics ; $v v.17. $3 438638
856 4 0 $u http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019