De novo unbalanced translocations have a complex history/aetiology
Author:
Funder
Ministero della Salute
Lundbeckfonden
Fondazione Telethon
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-018-1941-9/fulltext.html
Reference52 articles.
1. Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O (2009) A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet 17:179–186. https://doi.org/10.1038/ejhg.2008.160
2. Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B (2009) Unusual 8p inverted duplication deletion with telomere capture from 8q. Eur J Med Genet 52:31–36. https://doi.org/10.1016/j.ejmg.2008.10.007
3. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR (2015) Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31:382–392. https://doi.org/10.1016/j.tig.2015.03.013
4. Chang YW, Wang PH, Li WH, Chen LC, Chang CM, Sung PL, Yang MJ, Cheng LY, Lai YL, Cheng YY, Yeh CC, Chang WH, Wang SY, Chen SR, Yen MS, Chao KC (2013) Balanced and unbalanced reciprocal translocation: an overview of a 30-year experience in a single tertiary medical center in Taiwan. J Chin Med Assoc 76:153–157. https://doi.org/10.1016/j.jcma.2012.11.002
5. Chantot-Bastaraud S, Stratmann S, Brioude F, Begemann M, Elbracht M, Graul-Neumann L, Harbison M, Netchine I, Eggermann T (2017) Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction. Mol Cytogenet 25:28. https://doi.org/10.1186/s13039-017-0329-1
Cited by 22 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. Building the brain mosaic: an expanded view;Trends in Genetics;2024-09
2. Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases;Molecular Cytogenetics;2024-04-08
3. Ionizing radiation toxicology;Encyclopedia of Toxicology;2024
4. A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features;Genes;2023-12-10
5. Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion;European Journal of Medical Genetics;2022-11
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