期刊文献+

Waardenburg综合征研究现状 被引量:9

原文传递
导出
出处 《临床耳鼻咽喉科杂志》 CSCD 北大核心 2005年第19期910-912,共3页 Journal of Clinical Otorhinolaryngology
  • 相关文献

参考文献18

  • 1Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet,1983,14:231-239.
  • 2Shah K N,Dalal S J, Desai M P,et al.White forelock, pigmentary disorder of irides,and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.J Pediatr,1981,99:432-435.
  • 3Farrer L A,Grundfast K M, Amos J, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet,1992,50:902-913.
  • 4Tassabehji M,Read A P,Newton V E,et al.Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet,1993,3:26-30.
  • 5Liu X Z, Newton V E,Read A P.Waardenburg syndrome type II:phenotypic finding and diagnostic criteria. Am J Med Genet,1995,55:95-100.
  • 6Dourmishev A L,Dourmishev L A,Schwartz R A,et al.Waardenburg syndrome. Int J Dermatol,1999,38:656-663.
  • 7Ishikiriyama S,Tonoki H, Shibuya Y,et al.Waardenburg syndrome type I in a child with de nove inversion(2)(q35q37.3).Am J Med Genet,1989,33:505-507.
  • 8Tsukamoto K,Tohma T,Ohta T,et al. Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I. Hum Mol Genet,1992,1:315-317.
  • 9Fujimoto A,Reddy K S,Spinks R. Interstitial deletion of chromosome 4, del(4)(q12q21.1),in a mentally retared boy with a piebald trait, due to maternal insertion, ins(8;4).Am J Med Genet,1998,75:78-81.
  • 10王秋菊,侯军华,张立文,曹菊阳,郗昕,马志中,杨贵舫,张素珍,顾瑞,杨伟炎.Waardenburg综合征的遗传学分析[J].听力学及言语疾病杂志,2003,11(1):1-3. 被引量:3

二级参考文献2

  • 1李建国 王文双.Waardenburg综合征一家五例[J].中华医学遗传学杂志,1994,11:129-129.
  • 2富杰 陈德忠.Waardenburg综合征一个家系调查[J].中华儿科杂志,1995,33:297-297.

共引文献2

同被引文献64

  • 1刘中林,兰宝森,董玉云.Waardenburg综合征内耳畸形的CT所见(附三例报道)[J].中华放射学杂志,1994,28(3):190-191. 被引量:3
  • 2刘学忠,欧阳小梅,Denise Yan,袁永一,袁慧军.中国人群遗传性耳聋研究进展[J].中华耳科学杂志,2006,4(2):81-89. 被引量:82
  • 3陶勇,郑芸.瓦登博格综合征[J].听力学及言语疾病杂志,2007,15(2):170-172. 被引量:5
  • 4Farrer LA, Grundfast KM, Amos J, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near AL PP on chromosome: first report of the WS consortium [J ]. Am J Hum Genet, 1992, 50: 902.
  • 5Cullen RD, Roush P, Brown C, et al. Cochlear implants in Warrdenburg syndrome [J].Laryngoscope, 2006, 116(7): 1273-5.
  • 6Migirov L, Henkin Y, Hildesheimer M, et al. Cochlear implantation in Waardenburg's syndrome[J]. Acta Otolaryngol, 2005, 125: 713.
  • 7张祖荣.耳鼻咽喉症状鉴别诊断学.青海:青海人民出版社西宁,1992.18
  • 8Farrer LA, Grundfas TKM, Amos J, et al. Waardenburg Syndrome(WS)type 1 is caused by defects at multiple loci,one of which is near ALPP on chromosome 2: first report of The WS consortium. Am J Hum Genet, 1992,50:902-913
  • 9Liu XZ, Newton VE. Read AP Waardenburg syndrome type Ⅱ (WS2)phenotypic finding and diagnostic criteria. Am J Med Genet 1995,55:95
  • 10罗会元主译.人类遗传学,问题与方法.第3版.北京:人民出版社,1999.723

引证文献9

二级引证文献19

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