A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

Published:2004-03-03 Issue:5 Volume:12 Page:419-421
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pichon Bruno,Vankerckhove Sophie,Bourrouillou Georges,Duprez Laurence,Abramowicz Marc J

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201169.pdf

Reference11 articles.

1. Mochida GH, Walsh CA : Molecular genetics of human microcephaly. Curr Opin Neurol 2001; 14: 151–156.

2. Roberts E, Hampshire DJ, Pattison L et al: Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002; 39: 718–721.

3. Leal G, Roberts E, O Silva EO, Costa SMR, Hampshire DJ, Woods CG : A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 2003; 40: 540–542.

4. Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ : Primary autosomal recessive microcephaly: MCPH5 maps to 1q25–q32. Am J Hum Genet 2000; 67: 1575–1577.

5. Pattison L, Crow YJ, Deeble VJ et al: A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000; 67: 1578–1580.

Cited by 28 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

1. Time is of the essence: the molecular mechanisms of primary microcephaly;Genes & Development;2021-12-01

2. Dissecting the Genetic and Etiological Causes of Primary Microcephaly;Frontiers in Neurology;2020-10-15

3. Autosomal recessive primary microcephaly due to ASPM mutations: An update;Human Mutation;2018-01-16

4. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly;Annals of Saudi Medicine;2016-11

5. Morphological and functional aspects of progenitors perturbed in cortical malformations;Frontiers in Cellular Neuroscience;2015-02-12

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