Novel de novo mutations inEFTUD2detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel de novo mutations inEFTUD2detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

Published:2015-03-03 Issue:4 Volume:167 Page:914-918
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sarkar Arindam¹,Emrick Lisa T.²,Smith Eboni M.³,Austin Elise G.²,Yang Yaping²,Hunter Jill V.⁴,Scaglia Fernando²,Lalani Seema R.²

Affiliation:

1. Department of Medicine; Baylor College of Medicine; Houston Texas

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

3. Department of Developmental and Behavioral Pediatrics; Baylor College of Medicine; Houston Texas

4. Department of Pediatric Radiology; Texas Children's Hospital; Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36948/fullpdf

Reference13 articles.

1. Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities;Bainbridge;Genome Biol,2011

2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

3. An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2;Fabrizio;EMBO J,1997

4. EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia;Gordon;J Med Genet,2012

5. Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: Autosomal dominant or X-linked syndrome?;Guion-Almeida;Am J Med Genet A,2009

Cited by 15 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. A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type;The Cleft Palate-Craniofacial Journal;2022-11-01

2. Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?;European Journal of Medical Genetics;2022-05

3. A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly;Journal of Clinical Laboratory Analysis;2022-04-18

4. Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei;Clinical Dysmorphology;2021-10-22

5. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53;Human Molecular Genetics;2021-02-18

同舟云学术

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