文献

J-GLOBAL ID：200902214132779181   整理番号：09A0654178

16q24.1上のFOX遺伝子クラスターのゲノムおよび遺伝子欠失およびFOXF1の不活性化突然変異は肺胞キャピラリー異形成および他の奇形の原因となる

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

著者 (36件)： STANKIEWICZ Pawel (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  STANKIEWICZ Pawel (Dept of Medical Genetics, Inst. of Mother and Child, 01-211 Warsaw, POL) ,  SEN Partha (Dept of Pediatrics - Nutrition, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  BHATT Samarth S. (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  STORER Mekayla (Inst. of Child Health, WC1N 1EH London, GBR) ,  STORER Mekayla (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  XIA Zhilian (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  BEJJANI Bassem A. (Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA) ,  OU Zhishuo (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  WISZNIEWSKA Joanna (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  DRISCOLL Daniel J. (Div. of Pediatric Genetics and Metabolism, Univ. of Florida Coll. of Medicine, Gainesville, FL 32610, USA) ,  BOLIVAR Juan (Dept of Cardiology, Miami Children’s Hospital, Miami, FL 33155, USA) ,  BAUER Mislen (Dept of Genetics, Miami Children’s Hospital, Miami, FL 33155, USA) ,  ZACKAI Elaine H. (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  MCDONALD-MCGINN Donna (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  NOWACZYK Malgorzata M.J. (Dept of Pathology and Molecular Medicine, McMaster Univ., Hamilton, Ontario L8S 3K9, CAN) ,  MURRAY Mitzi (Dept of Medical Genetics, Univ. of Washington, Seattle, WA 98195, USA) ,  SHAIKH Tamim H. (Div. of Human Genetics, Children’s Hospital of Philadelphia, PA 19104, USA) ,  MARTIN Vicki (Inst. of Child Health, WC1N 1EH London, GBR) ,  MARTIN Vicki (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  TYREMAN Matthew (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  SIMONIC Ingrid (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  WILLATT Lionel (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  PATERSON Joan (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  MEHTA Sarju (Dept of Medical Genetics, Addenbrooke’s Hospital, CB2 0QQ Cambridge, GBR) ,  RAJAN Diana (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  FITZGERALD Tomas (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  GRIBBLE Susan (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  PRIGMORE Elena (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  PATEL Ankita (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  SHAFFER Lisa G. (Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA) ,  CARTER Nigel P. (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR) ,  CHEUNG Sau Wai (Dept of Molecular & Human Genetics, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  LANGSTON Claire (Dept of Pathology, Texas Children’s Hospital, Baylor Coll. of Medicine, Houston, TX 77030, USA) ,  SHAW-SMITH Charles (Inst. of Child Health, WC1N 1EH London, GBR) ,  SHAW-SMITH Charles (Wellcome Trust Sanger Inst., Hinxton, CB10 1SA Cambridge, GBR)
資料名： American Journal of Human Genetics  (American Journal of Human Genetics)
巻： 84  号： 6  ページ： 780-791  発行年： 2009年06月12日 
JST資料番号： B0360B  ISSN： 0002-9297  資料種別： 逐次刊行物 (A)
発行国： オランダ (NLD)  言語： 英語 (EN)

タイトルに関連する用語 (10件)： クラスター ,  ゲノム ,  遺伝子欠失 ,  不活性化 ,  突然変異 ,  肺胞 ,  キャピラリー ,  異形成 ,  奇形 ,  原因