文献

J-GLOBAL ID：201202203059081549   整理番号：12A0226604

1q43q44の微細欠失のある患者では高解像度アレイCGHから小頭症、脳梁の異常および発作表現型に対する重要な領域と候補遺伝子が明らかになる

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

著者 (30件)： BALLIF Blake C. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  ROSENFELD Jill A. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  TRAYLOR Ryan (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  THEISEN Aaron (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  BADER Patricia I. (Northeast Indiana Genetic Counseling, Ft. Wayne, IN, USA) ,  LADDA Roger L. (Penn State Hershey Medical Center, Hershey, PA, USA) ,  SELL Susan L. (Penn State Hershey Medical Center, Hershey, PA, USA) ,  STEINRATHS Michelle (Victoria General Hospital, Victoria, BC, CAN) ,  SURTI Urvashi (Univ. of Pittsburgh, Pittsburgh Cytogenetics Lab., Magee-Womens Hospital of UPMC, Pittsburgh, PA, USA) ,  MCGUIRE Marianne (Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA) ,  WILLIAMS Shelley (Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA) ,  FARRELL Sandra A. (Credit Valley Hospital, Mississauga, ON, CAN) ,  FILIANO James (Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA) ,  SCHNUR Rhonda E. (Cooper Univ. Hospital/Robert Wood Johnson Medical School, Camden, NJ, USA) ,  COFFEY Lauren B. (Cooper Univ. Hospital/Robert Wood Johnson Medical School, Camden, NJ, USA) ,  TERVO Raymond C. (Gillette Children’s Specialty Healthcare, St. Paul, MN, USA) ,  STROUD Tracy (Univ. of Missouri, Columbia, MO, USA) ,  MARBLE Michael (Louisiana State Univ. Health Sciences Center/Children’s Hospital of New Orleans, New Orleans, LA, USA) ,  NETZLOFF Michael (Michigan State Univ., East Lansing, MI, USA) ,  HANSON Kristen (Michigan State Univ., East Lansing, MI, USA) ,  AYLSWORTH Arthur S. (Univ. of North Carolina-Chapel Hill, Departments of Pediatrics and Genetics, Chapel Hill, NC, USA) ,  BAMFORTH J. S. (Univ. of Alberta, Edmonton, AB, CAN) ,  BABU Deepti (Univ. of Alberta, Edmonton, AB, CAN) ,  NIYAZOV Dmitriy M. (Ochsner Clinic Foundation, New Orleans, LA, USA) ,  RAVNAN J. Britt (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  SCHULTZ Roger A. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  LAMB Allen N. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  TORCHIA Beth S. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  BEJJANI Bassem A. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA) ,  SHAFFER Lisa G. (Signature Genomic Laboratories, 2820 N. Astor St., 99207, Spokane, WA, USA)
資料名： Human Genetics  (Human Genetics)
巻： 131  号： 1  ページ： 145-156  発行年： 2012年01月 
JST資料番号： E0781B  ISSN： 0340-6717  CODEN： HUGEDQ  資料種別： 逐次刊行物 (A)
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (9件)： 微細欠失 ,  患者 ,  高解像度 ,  アレイCGH ,  小頭症 ,  脳梁 ,  発作 ,  表現型 ,  候補遺伝子