Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome

Published:2019-02-17 Issue:5 Volume:179 Page:792-796
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Carlston Colleen M.¹²^ORCID,Bleyl Steven B.³,Andrews Ashley⁴,Meyers Lindsay³,Brown Sara²,Bayrak-Toydemir Pinar¹²,Bale James F.⁵,Botto Lorenzo D.⁴

Affiliation:

1. Department of Pathology; University of Utah; Salt Lake City Utah

2. ARUP Institute for Clinical and Experimental Pathology; Salt Lake City Utah

3. Division of Pediatric Cardiology; University of Utah; Salt Lake City Utah

4. Division of Medical Genetics; University of Utah; Salt Lake City Utah

5. Department of Pediatric Neurology; University of Utah; Salt Lake City Utah

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61091/fullpdf

Reference18 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Current Protocols in Human Genetics,2013

2. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

3. PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels;Choi;Bioinformatics,2015

4. Human splicing finder: An online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Research,2009

5. Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths;Eng;Human Mutatation,2004

Cited by 21 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 Novel Mutation of NONO-Associated X-linked Syndromic Intellectual Developmental Disorder-34 in a Fetus;2024-05-09

2. X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review;Molecular Genetics and Metabolism Reports;2024-03

3. Established and Evolving Roles of the Multifunctional Non-POU Domain-Containing Octamer-Binding Protein (NonO) and Splicing Factor Proline- and Glutamine-Rich (SFPQ);Journal of Developmental Biology;2024-01-05

4. A novel NONO nonsense variant in a fetus with renal abnormalities;Prenatal Diagnosis;2023-12-18

5. Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder;Frontiers in Genetics;2023-07-18

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