ASIA unversity:Item 310904400/25199
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 90120/105263 (86%)
造访人次 : 7260003      在线人数 : 222
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


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://asiair.asia.edu.tw/ir/handle/310904400/25199


    题名: Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold
    作者: 陳持平;Chen, Chih-Ping;Yi-Yung Chen;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Li-Feng Chen;Wayseen Wang
    贡献者: 生物科技學系
    关键词: Coarctation of the aorta;MED13L;RNASET2;TBX3;TBX5;Ventriculomegaly
    日期: 2013-03
    上传时间: 2013-07-11 13:55:18 (UTC+8)
    摘要: We present rapid aneuploidy diagnosis of de novo partial trisomy 12q (12q24.21 → qter) and partial monosomy 6q (6q27 → qter) by aCGH using uncultured amniocytes in a fetus with coarctation of the aorta, ventriculomegaly and thickened nuchal fold. We discuss the association of TBX3, TBX5 and MED13L gene duplication with coarctation of the aorta, and the association of RNASET2 gene haploinsufficiency with ventriculomegaly in this case.
    關聯: GENE,516(1),138–142.
    显示于类别:[生物科技學系] 期刊論文

    文件中的档案:

    档案 大小格式浏览次数
    index.html0KbHTML173检视/开启


    在ASIAIR中所有的数据项都受到原著作权保护.


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