Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference30 articles.
1. Duplication 3q syndrome: Molecular delineation of the critical region;Aqua;Am J Med Genet,1995
2. Chromosomes in the Cornelia de Lange syndrome;Beck;Hum Genet,1981
3. Developmental expression of OSP/claudin-11;Bronstein;J Neurosci Res,2000
4. Cloning and expression analysis of murine phospholipase D1;Colley;Biochem J,1997
5. A new case of dup(3q) syndrome due to a pure duplication of 3qter;Faas;Clin Genet,2002
Cited by 18 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. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception;Italian Journal of Pediatrics;2023-02-09
2. A rare chromosomal disorder in a newborn: trisomy 3q;The Turkish Journal of Pediatrics;2019
3. Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family;Molecular Cytogenetics;2018-02-20
4. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome;Molecular Syndromology;2018
5. Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report;Experimental and Therapeutic Medicine;2017-05-03
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