5p13.3p13.2 duplication associated with developmental delay, congenital malformations and chromosome instability manifested as low-level aneuploidy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://link.springer.com/content/pdf/10.1186/s40064-015-1399-3.pdf
Reference32 articles.
1. Abdallah BY, Horne SD, Stevens JB, Liu G, Ying AY, Vanderhyden B, Krawetz SA, Gorelick R, Heng HH (2013) Single cell heterogeneity: why unstable genomes are incompatible with average profiles. Cell Cycle 12:3640–3649
2. Carvill GL, Mefford HC (2013) Microdeletion syndromes. Curr Opin Genet Dev 23:232–239
3. Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A (2005) Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3). Am J Med Genet A 136A:381–385
4. Forsberg LA, Absher D, Dumanski JP (2013) Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. J Med Genet 50:1–10
5. Franceschini A, Szklarczyk D, Frankild S, Kuhn M, Simonovic M, Roth A, Lin J, Minguez P, Bork P, von Mering C, Jensen LJ (2013) STRING v9.1: protein-protein interaction networks, with increased coverage and integration. Nucleic Acids Res 41:D808–D815
Cited by 8 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. Svetlana G. Vorsanova (1945–2021);Molecular Cytogenetics;2022-08-19
2. Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family;Journal of Obstetrics and Gynaecology;2021-10-23
3. Twenty-First Century FISH: Focus on Interphase Chromosomes;Human Interphase Chromosomes;2020
4. Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism;Genes;2019-05-19
5. Yuri B. Yurov (1951-2017);Molecular Cytogenetics;2018-06-13
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