新生學校財團法人新生醫護管理專科學校圖書館 |

Noonan syndrome and related disorders = a matter of deregulated ras signaling /

紀錄類型:	書目-電子資源 : 單行本
正題名/作者:	Noonan syndrome and related disorders/ volume editor, Martin Zenker.
其他題名:	a matter of deregulated ras signaling /
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:	ras Proteins - genetics. -
電子資源:	http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019
ISBN:	9783805586542

Noonan syndrome and related disorders = 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:

322451
ras Proteins
--genetics.

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 = a matter of deregulated ras signaling /
LDR:02358cmm a2200277 a 4500 001 166024
003 SZ-BaSKA
005 20110603112133.0
006 m d
007 cr cn|||||||||
008 160302s2009 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 : $c 2009 $b S. Karger,
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 2 2 $a ras Proteins $x genetics. $3 322451
650 2 2 $a Signal Transduction. $3 256604
650 2 2 $a Noonan Syndrome $x physiopathology. $3 322450
650 1 2 $a Noonan Syndrome $x genetics. $3 322449
650 0 $a Ras proteins. $3 322448
650 0 $a Ras oncogenes. $3 322447
650 0 $a Genetic disorders. $3 126617
700 1 $a Zenker, Martin. $3 322446
830 0 $a Monographs in human genetics ; $v v.17. $3 322445
856 4 0 $u http://content.karger.com/ProdukteDB/produkte.asp?Aktion=showproducts&searchWhat=books&searchParm=toc&ProduktNr=239019