期刊文献+

听力-色素综合征临床与遗传学相关概况 被引量:1

下载PDF
导出
作者 王卫
出处 《浙江中西医结合杂志》 2006年第8期482-483,共2页 Zhejiang Journal of Integrated Traditional Chinese and Western Medicine
  • 相关文献

参考文献11

  • 1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
  • 2Farrer 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
  • 3Liu XZ, Newton VE. Read AP Waardenburg syndrome type Ⅱ (WS2)phenotypic finding and diagnostic criteria. Am J Med Genet 1995,55:95
  • 4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
  • 5Ishikiriyama S, Tonoki H, Shibuy Y, et al. Waardenburg syndrome type 1 in a child E de nove inversion (2) (q35 q37.3). Am J Hum Genet,1989 ,49 :505
  • 6Tsukamoto K. Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with WS type 1.Hum Mole Genet,1992,315
  • 7Tassabehji M Newton VE, Read AP. Waardenburg syndrome Ⅱ caused by mutations in the human microphthalmia(MITF) gene. Nat Genet, 1994,251
  • 8Tassabehji M. WS patient have mutations in the human homologe of the Pax-3 paired box gene. Nature, 1992,635
  • 9Edery P. Mutation of the endothelin-3 in the waardenburg-Hirschsprung disease. Nat Grenet, 1996,442
  • 10Pingault V. SOX-10 mutations in patients with waardenbutg-Hirsehsprung disease. Nat Genet, 1998,171

二级参考文献18

  • 1Tassabehji M,Read A P,Newton V E,et al.Waardenburg′s syndrome patients have mutaions in the human homologue of the Pax-3 paired box gene. Nature,1992,355:635-636.
  • 2Tassabehji M, Newton V E,Liu X Z,et al.The mutationl spectrum in Waardenburg syndrome. Hum Mol Genet, 1995,4:2131-2137.
  • 3Tassabehji M, Newton V E,Read A P.Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet,1994,8:251-255.
  • 4Smith S D, Kelley P M, Kenyon J B, et al. Teitz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet,2000,37:446-448.
  • 5Klein D. Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III). Am J Med Genet,1983,14:231-239.
  • 6Shah 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.
  • 7Farrer 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.
  • 8Tassabehji 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.
  • 9Liu 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.
  • 10Dourmishev A L,Dourmishev L A,Schwartz R A,et al.Waardenburg syndrome. Int J Dermatol,1999,38:656-663.

共引文献8

同被引文献6

  • 1孔维佳.两个亟待发展的学科领域——听力学及耳聋分子生物学[J].中华耳鼻咽喉头颈外科杂志,2005,40(5):321-322. 被引量:2
  • 2戴春富,刘建平,王正敏.老年性聋发病机理研究进展[J].中国眼耳鼻喉科杂志,2005,5(3):192-193. 被引量:4
  • 3罗会元.人类遗传学问题与方法.第3版.北京:人民出版社,1999.723.
  • 4Smith SD, Kelley DM, Kenyon JB, et al. Teitz syndrome caused by mutation of MITE. J Med Genet, 2000,37 : 446- 448
  • 5Seidman MD, Khan M J, Baiu, et al. Biologica activity of mitochondrial metabolites on aging and age-related hearing loss. Am J Otol,2000,21:161-167.
  • 6王卫.从老年聋话抗衰老干预治疗[J].医学实践杂志,2001,15(6):361-361.

引证文献1

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