A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference34 articles.
1. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes;Aldred;J. Med. Genet.,2004
2. The endosome localized Arf-GAP AGAP1 modulates dendritic spine morphology downstream of the neurodevelopmental disorder factor dysbindin;Arnold;Front. Cell. Neurosci.,2016
3. AGAP1/AP-3-dependent endocytic recycling of M5 muscarinic receptors promotes dopamine release;Bendor;EMBO J.,2010
4. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals;Casas;Am. J. Med. Genet.,2004
5. A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma;Ceroni;Autism Res.,2014
Cited by 12 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. KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies;The American Journal of Human Genetics;2024-07
2. Leveraging human–mouse studies to advance the genetics of hearing impairment in Africa;The Journal of Gene Medicine;2024-07
3. Dendritic spines and their role in the pathogenesis of neurodevelopmental and neurological disorders;Reviews in the Neurosciences;2024-03-05
4. A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion;Journal of Pediatric and Adolescent Gynecology;2024-02
5. Social isolation-induced transcriptomic changes in mouse hippocampus impact the synapse and show convergence with human genetic risk for neurodevelopmental phenotypes;PLOS ONE;2023-12-21
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