期刊文献+

Usher综合征 被引量:2

暂未订购
导出
出处 《听力学及言语疾病杂志》 CAS CSCD 2000年第1期61-63,共3页 Journal of Audiology and Speech Pathology
  • 相关文献

参考文献9

  • 11,Moller CG,Kimberling WJ,Davenport SLH,et al.Ushersyndrome:An otoneurologic study[J].Laryngerscope,1989,99:73.
  • 22,Smith RJH,Berlin CI,Hejtmancik JF,et al.Clinical diagnosis of the Usher syndromes[J].AmJ Med Genet,1994,50:32.
  • 33,Belal A.Usher's syndrome:a temporal bone report[J].J Laryngol Otol,1975,89:175.
  • 44,Mariteea J,Walters KS,Burgess R,et al.Usher's syndrome type IC:clinical studies andfine-maping the disease locus[J].Ann Otol Rhinol Laryngol,1997,106:123.
  • 55,Shinkawa H,Nadol JB.Histopathology of the inner ear in Usher's syndrome as observed bylight and electron microscopy[J].Ann Otol Rhinol Larygol,1986,95:313.
  • 66,Eudy JD,Weston MD,Yao SF,et al.Mutation of a gene encoding a protein withextracellular matrix motifs in Usher syndrome type lla[J].Science,1998,280:1753.
  • 77,Adato A,Weil D,Halinski H,et al.Mutation profile of all 49 exons of the humann MyosinVIIA gene and haplotype analysis in Usher IB families from diverse origins[J].Am J HumGenet,1997,61:813.
  • 88,Steel KP,Mburun P,Gibson F,et al.Unravelling the genetics of deafness[J].Ann OtolRhinol Laryngol,1997,106:59.
  • 99,Self T,Mahony M,Fleming J,et al.Shake-l mutations reveal roles for myosin VIIA in bothdevelopment and function of ckchlear hair cells[J].Development,1998,125:557. 收稿1999-04-12修回1999-07-20

同被引文献9

  • 1杨淑芝,杨伟炎,袁慧军.Waardenburg综合征研究现状[J].临床耳鼻咽喉科杂志,2005,19(19):910-912. 被引量:9
  • 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:85
  • 3徐明,李文生,吴文灿,孙涛.Usher综合征一例[J].中华眼底病杂志,2006,22(5):312-312. 被引量:1
  • 4胡诞宁.全身性遗传综合征与眼//胡诞宁.眼科遗传学.上海:上海科学技术出版社,1988:450-451.
  • 5Chuah G, Quah BL, Chuah CT, et al. Case report of Usher's syndrome in two sister: first reported case in Singapore. Singapore Med J, 1998,39 : 27-29.
  • 6Astuto LM, Weston MD,Carney CA, et al. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet,2000,67:1569- 1574.
  • 7Smith RJH, Berlin CI, Hejtmancik JF, et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Jed Genet, 1994,50:32-38.
  • 8纪淑兴,张军军,陈晓明,孟丹.Usher综合征一例[J].中华眼底病杂志,2002,18(3):242-243. 被引量:1
  • 9王轶,曹克利.Pendred综合征[J].听力学及言语疾病杂志,2003,11(4):313-314. 被引量:3

引证文献2

二级引证文献3

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