Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability
Author:
Funder
National Institute of General Medical Sciences
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference58 articles.
1. Autism-associated familial microdeletion of Xp11.22;Y Qiao;Clin Genet,2008
2. Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females;R Giorda;Am J Hum Genet,2009
3. Autism in two females with duplications involving Xp11.22-p11.23;AC Edens;Dev Med Child Neurol,2011
4. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder;BH Chung;Eur J Med Genet,2011
5. Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements;G Froyen;Am J Hum Genet,2012
Cited by 13 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. Recurrent Fever of Unknown Origin and Unexplained Bacteremia in a Patient with a Novel 4.5 Mb Microdeletion in Xp11.23-p11.22;2024-02-15
2. High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations;Translational Research;2023-11
3. Characterization of large-scale genomic differences in the first complete human genome;Genome Biology;2023-07-04
4. A refined characterization of large-scale genomic differences in the first complete human genome;2022-12-19
5. X-Linked CNV in Pathogenetics of Intellectual Disability;Russian Journal of Genetics;2022-10
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