Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01590.x/fullpdf
Reference25 articles.
1. X-linked mental retardation.;Ropers;Nat Rev Genet,2005
2. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.;Tarpey;Nat Genet,2009
3. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.;De Brouwer;Hum Mutat,2007
4. XLMR genes: update 2007.;Chiurazzi;Eur J Hum Genet,2008
5. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.;Vissers;Am J Hum Genet,2003
Cited by 46 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. Decoding the genetic landscape of autism: A comprehensive review;World Journal of Clinical Pediatrics;2024-09-09
2. Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability;Cells;2024-01-21
3. PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports;Frontiers in Psychiatry;2024-01-15
4. CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction;Human Genetics and Genomics Advances;2024-01
5. Emerging role of epigenetics in human neurodevelopmental disorders;Epigenetics in Human Disease;2024
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