國家衛生研究院 NHRI:Item 3990099045/5439
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 12340/13512 (91%)
造访人次 : 2255091      在线人数 : 211
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜寻范围 查询小技巧：
  • 您可在西文检索词汇前后加上"双引号"，以获取较精准的检索结果
  • 若欲以作者姓名搜寻，建议至进阶搜寻限定作者字段，可获得较完整数据
    •  进阶搜寻
    主页 ‧ 登入 ‧ 上传 ‧ 说明 ‧ 关于NHRI ‧ 管理 到手机版


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/5439


    题名: Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome
    作者: Liao, HM;Niu, DM;Chen, YJ;Fang, JS;Chen, SJ;Chen, CH
    贡献者: Division of Mental Health and Addiction Medicine
    摘要: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital cataracts, dental anomalies and mental retardation. The disease has been linked to a novel gene termed NHS located at Xp22.13. The majority of pathogenic mutations of the disease include nonsense mutations and small deletions and insertions that lead to truncation of the NHS protein. In this study, we identified a microdeletion of similar to 0.92Mb at Xp22.13 detected by array-based comparative genomic hybridization in two brothers presenting congenital cataract, dental anomalies, facial dysmorphisms and mental retardation. The deleted region encompasses the REPS2, NHS, SCML1 and RAI2 genes, and was transmitted from their carrier mother who presented only mild cataract. Our findings are in line with several recent case reports to indicate that genomic rearrangement involving the NHS gene is an important genetic etiology underlying NHS.
    日期: 2011-01
    關聯: Journal of Human Genetics. 2011 Jan;56(1):8-11.
    Link to: http://dx.doi.org/10.1038/jhg.2010.121
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1434-5161&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000286585200004
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=79251613797
    显示于类别:[陳嘉祥(2009-2013)] 期刊論文

    文件中的档案:

    档案 描述 大小格式浏览次数
    ISI000286585200004.pdf325KbAdobe PDF1108检视/开启


    在NHRI中所有的数据项都受到原著作权保护.

    TAIR相关文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回馈