Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome
Author:
Affiliation:
1. Department of Molecular Medicine and Surgery; Karolinska Institutet; Stockholm Sweden
2. Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden
3. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden
Funder
Stockholm County
Swedish Medical Research Council
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36769/fullpdf
Reference21 articles.
1. Case series: 2q33.1 microdeletion syndrome-further delineation of the phenotype;Balasubramanian;J Med Genet,2011
2. Trimmomatic: A flexible trimmer for Illumina sequence data;Bolger;Bioinformatics,2014
3. A locus for isolated cleft palate, located on human chromosome 2q32;Brewer;Am J Hum Genet,1999
4. Novel transcription factor Satb2 interacts with matrix attachment region DNA elements in a tissue-specific manner and demonstrates cell-type-dependent expression in the developing mouse CNS;Britanova;Eur J Neurosci,2005
5. Further delineation of the SATB2 phenotype;Docker;Eur J Hum Genet,2013
Cited by 35 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. The intronic variant of SATB2 gene observed in an Indian Glass syndrome family;Neurology Asia;2024-03
2. Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review;Dentistry Journal;2023-12-04
3. CUT homeobox genes: transcriptional regulation of neuronal specification and beyond;Frontiers in Cellular Neuroscience;2023-09-08
4. SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review;Genes;2023-04-08
5. Bone Tissue and the Nervous System: What Do They Have in Common?;Cells;2022-12-22
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