Noonan syndrome and related disorders : a matter of deregulated ras signaling
著者
書誌事項
Noonan syndrome and related disorders : a matter of deregulated ras signaling
(Monographs in human genetics, v. 17)
Karger, 2009
- : hbk
大学図書館所蔵 全1件
  青森
  岩手
  宮城
  秋田
  山形
  福島
  茨城
  栃木
  群馬
  埼玉
  千葉
  東京
  神奈川
  新潟
  富山
  石川
  福井
  山梨
  長野
  岐阜
  静岡
  愛知
  三重
  滋賀
  京都
  大阪
  兵庫
  奈良
  和歌山
  鳥取
  島根
  岡山
  広島
  山口
  徳島
  香川
  愛媛
  高知
  福岡
  佐賀
  長崎
  熊本
  大分
  宮崎
  鹿児島
  沖縄
  韓国
  中国
  タイ
  イギリス
  ドイツ
  スイス
  フランス
  ベルギー
  オランダ
  スウェーデン
  ノルウェー
  アメリカ
注記
Includes bibliographical references and indexes
内容説明・目次
内容説明
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.
目次
- Editorial: Schmid, M.
- Preface: Zenker, M.
- History of Noonan Syndrome and Related Disorders: Noonan, J.A.
- The Clinical Phenotype of Noonan Syndrome: Allanson, J.E.
- Molecular Genetics of Noonan Syndrome: Tartaglia, M.
- Gelb, B.D.
- Genotype-Phenotype Correlations in Noonan Syndrome: Sarkozy, A.
- Digilio, M.C.
- Marino, B.
- Dallapiccola, B.
- LEOPARD Syndrome: Clinical Aspects and Molecular Pathogenesis: Sarkozy, A.
- Digilio, M.C.
- Zampino, G.
- Dallapiccola, B.
- Tartaglia, M.
- Gelb, B.D.
- The Clinical Phenotype of Cardiofaciocutaneous Syndrome (CFC): Roberts, A.E.
- Molecular Causes of the Cardio-Facio-Cutaneous Syndrome: Tidyman, W.E.
- Rauen, K.A.
- The Clinical Phenotype of Costello Syndrome: Kerr, B.
- The Molecular Basis of Costello Syndrome: Sol-Church, K.
- Gripp, K.W.
- Endocrine Regulation of Growth and Short Stature in Noonan Syndrome: Binder, G.
- The Heart in Ras-MAPK Pathway Disorders: Digilio, M.C.
- Marino, B.
- Sarkozy, A.
- Versacci, P.
- Dallapiccola, B.
- Myeloproliferative Disease and Cancer in Persons with Noonan Syndrome and Related Disorders: Kratz, C.
- Neurofibromatosis Type 1-Noonan Syndrome: What's the Link?: Denayer, E.
- Legius, E.
- Animal Models for Noonan Syndrome and Related Disorders: Araki, T.
- Neel, B.G.
- Towards a Treatment for RAS-MAPK Pathway Disorders: Joshi, V.A.
- Roberts, A.E.
- Kucherlapati, R.
- Author Index
- Subject Index.
「Nielsen BookData」 より