Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Author:

Dobyns William B.,Mirzaa Ghayda,Christian Susan L.,Petras Kristin,Roseberry Jessica,Clark Gary D.,Curry Cynthia J.R.,McDonald‐McGinn Donna,Medne Livija,Zackai Elaine,Parsons Julie,Zand Dina J.,Hisama Fuki M.,Walsh Christopher A.,Leventer Richard J.,Martin Christa L.,Gajecka Marzena,Shaffer Lisa G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference124 articles.

1. American Journal of Medical Genetics 01487299 10968628 2004

2. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation;Ahlbom;Am J Med Genet,1996

3. Is Dandy‐Walker malformation associated with “distal 13q deletion syndrome”? Findings in a fetus supporting previous observations;Alanay;Am J Med Genet Part A,2005

4. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome;Aligianis;Nat Genet,2005

5. Presumptive monosomy 21 with neuronal migration disorder re‐diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation;Alkan;Genet Couns,2002

Cited by 91 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3