A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference21 articles.
1. N-cofilin is associated with neuronal migration disorders and cell cycle control in the cerebral cortex;Bellenchi;Genes Dev.,2007
2. Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred;Burk;Neurology,2004
3. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond;Durr;Lancet Neurol.,2010
4. The actin depolymerizing factor n-cofilin is essential for neural tube morphogenesis and neural crest cell migration;Gurniak;Dev. Biol.,2005
5. Protein binding and signaling properties of RIN1 suggest a unique effector function;Han;Proc. Natl. Acad. Sci. U. S. A.,1997
Cited by 18 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. The Role of Cornichons in the Biogenesis and Functioning of Monovalent-Cation Transport Systems;Physiological Research;2024-08-31
2. Cornichon protein CNIH4 is not essential for mice gametogenesis and fertility;Developmental Biology;2023-04
3. Sex Differences in the Role of CNIH3 on Spatial Memory and Synaptic Plasticity;Biological Psychiatry;2021-12
4. Haploinsufficiency of SF3B2 causes craniofacial microsomia;Nature Communications;2021-08-03
5. Npas4 impairs fear memory via phosphorylated HDAC5 induced by CGRP administration in mice;Scientific Reports;2021-03-26
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