Genetic disorders associated with postnatal microcephaly
Author:
Funder
National Institutes of Health
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference131 articles.
1. Mutations of the catalytic subunit of RAB3GAP cause Warburg MICRO syndrome;Aligianis;Nat Genet,2005
2. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome;Aligianis;Am J Hum Genet,2006
3. 14q12 and severe Rett-like phenotypes: New clinical insights and physical mapping of FOXG1-regulatory elements;Allou;Eur J Hum Genet,2012
4. Mutations in TCF4, encoding a Class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;Am J Hum Genet,2007
5. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999
Cited by 69 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. Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II;International Journal of Molecular Sciences;2023-07-31
2. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly;BMC Genomics;2023-07-27
3. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly;2023-03-16
4. The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities;Frontiers in Neuroscience;2023-02-10
5. CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss;Annals of Child Neurology;2022-10-01
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