期刊文献+

Cockayne综合征一例 被引量:4

原文传递
导出
出处 《中华儿科杂志》 CAS CSCD 北大核心 2002年第5期317-317,共1页 Chinese Journal of Pediatrics
  • 相关文献

参考文献2

  • 1Nance MA,Berry SA.Cockayne Syndrome: review of 140 cases[].American Journal of Medical Genetics.1993
  • 2Le Page F,Kwoh EE,Avrutskaya A,et al.Transcription-coupled repair of 8-oxo Guanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome[].Cell.2000

同被引文献36

  • 1刘峰,周平坤.Cockayne综合征B基因(CSB)研究进展[J].国外医学(遗传学分册),2005,28(1):37-40. 被引量:2
  • 2Kleijer W J, Laugel V, Bemeburg M, et al. Incidence of DNA repair deficiency disorders in westem Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy [ J ]. DNA Repair (Amst) ,2008,7 (5) : 744 - 750.
  • 3Laugel V, Dalloz C, Stary A, et al. Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome [J]. Eur J Hum Genet,2008,16(3) :320 -327.
  • 4Anton L, Karin SK, Sebastian I. Truncated cockayne syndrome B protein represses elongation by RNA polymerase [ J]. J Mol Biol, 2008,382 (2) :266 -274.
  • 5Nardo T, Oneda R, Spivak G, et al. A UV - sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage[ J]. Proc Natl Acad Sci USA,2009, 106( 15 ) :6209 - 6214.
  • 6Adachi M, Kawanami T, Ohshima F,et al. MR Findings of cerebral white matter in cockayne syndrome [ J ]. Magn Reson Med Sci , 2006,5 ( 1 ) : 41 -45.
  • 7胡亚美.早老症[M]//胡亚美,江载芳.诸福棠实用儿科学. 第7版. 北京: 人民卫生出版社,2002: 2497-2498.
  • 8Morris DP, Alian W, Maessen H, Creaser C, Demmons-O'Brien S, Van Wijhe R, et al. Cochlear implantation in Cockayne syndrome: our experience of two cases with different outcomes[J]. Laryngoscope, 2007,117(5): 939-943.
  • 9Mohammed FR, Chowdhury FR, Nur Z, Shams MZ, Alam MB, Ahasan H. A case of 25 year old dwarf with classic Cockayne syndrome[J]. J Med, 2010, 11(2): 186-188.
  • 10Nance MA, Berry SA. Cockayne syndrome: review of 140 cases[J]. Am J Med Genet, 1992, 42(1): 68-84.

引证文献4

二级引证文献9

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部