Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference84 articles.
1. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion;Aldinger;Am. J. Med. Genet.,2012
2. SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders;Betancur;Mol. Autism,2013
3. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome;Bonaglia;Am. J. Hum. Genet.,2001
4. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome;Bonaglia;PLoS Genetics,2011
5. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome;Brignell;Eur. J. Hum. Genet.,2020
Cited by 15 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. Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy;European Journal of Medical Genetics;2024-10
2. High-throughput unsupervised quantification of patterns in the natural behavior of marmosets;2024-08-30
3. Simulated complexes formed from a set of postsynaptic proteins suggest a localised effect of a hypomorphic Shank mutation;BMC Neuroscience;2024-07-06
4. Long-term treatment with insulin-like growth factor-1 in Phelan-McDermid syndrome: a case report;Rare Disease and Orphan Drugs Journal;2024-05-06
5. Developmental convergence and divergence in human stem cell models of autism spectrum disorder;2024-04-02
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