Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33808/fullpdf
Reference16 articles.
1. Loss of heterozygosity on chromosome arms 5q, 11p, 11q, 13q, and 16p in human testicular germ cell tumors;Al-Jehani;Genes Chromosomes Cancer,1995
2. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray;Baldwin;Genet Med,2008
3. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome;Bartsch;Hum Genet,2006
4. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy;Bartsch;Eur J Hum Genet,1999
5. Differential activation of canonical Wnt signaling determines cranial sutures fate: A novel mechanism for sagittal suture craniosynostosis;Behr;Dev Biol,2010
Cited by 6 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. Syndromic and Systemic Diagnoses Associated With Isolated Sagittal Synostosis;Plastic and Reconstructive Surgery - Global Open;2019-12
2. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay;Genetics in Medicine;2019-05
3. RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas;Molecular Genetics & Genomic Medicine;2019-01-10
4. Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities;Cytogenetic and Genome Research;2015
5. Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with aDe Novo16p13.3 Interstitial Deletion;Case Reports in Genetics;2013
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