Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome?
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference16 articles.
1. Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis;Bagheri;JCI Insight,2016
2. Brain malformations in a patient with deletion 2p16.1: a refinement of the phenotype to BCL11A;Balci;Eur. J. Med. Genet.,2015
3. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;J. Med. Genet.,2008
4. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis;de Leeuw;J. Med. Genet.,2008
5. Diagnostic genome profiling in mental retardation;de Vries;Am. J. Hum. Genet.,2005
Cited by 4 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. Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting;Genes;2023-02-15
2. Cytogenomic epileptology;Molecular Cytogenetics;2023-01-05
3. Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations;Cytogenetic and Genome Research;2023
4. Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound;Taiwanese Journal of Obstetrics and Gynecology;2021-01
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