Contribution of SNP arrays in diagnosis of deletion 2p11.2–p12
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference22 articles.
1. Stability of dendritic spines and synaptic contacts is controlled by alpha N-catenin;Abe;Nat. Neurosci.,2004
2. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia;Anthoni;Hum. Mol. Genet.,2007
3. Segmental haplosufficiency; transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences;Barber;Eur. J. Hum. Genet.,2005
4. Hand preference and hand skill in children with autism;Cornish;J. Autism Dev. Disord.,1996
5. Child neurology: hereditary spastic paraplegia in children;De Bot;Neurology,2010
Cited by 5 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. Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome;Genes;2023-12-16
2. An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report;SAGE Open Medical Case Reports;2017-01-01
3. Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications;Clinical Genetics;2016-02-09
4. Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical features;European Journal of Medical Genetics;2016-01
5. A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1;European Journal of Human Genetics;2014-07-02
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