Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

Published:2018-06-21 Issue:8 Volume:6 Page:1531-1534
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Brightman Diana S.¹^ORCID,Ejaz Sehar²,Dauber Andrew³

Affiliation:

1. Genetic Counseling Program; Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati OH USA

2. Pediatric Endocrinology; Department of Pediatrics; Nassau University Medical Center; East Meadow NY USA

3. Cincinnati Center for Growth Disorders; Division of Endocrinology; Cincinnati Children's Hospital Medical Center; Cincinnati OH USA

Publisher

Wiley

Subject

General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ccr3.1655/fullpdf

Reference11 articles.

1. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B;Hanks;Nat Genet,2004

2. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome;Snape;Nat Genet,2011

3. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome;Pinson;Am J Med Genet A,2014

4. Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization;He;J Biol Chem,2013

5. Human BUBR1 is a mitotic checkpoint kinase that monitors CENP-E functions at kinetochores and binds the cyclosome/APC;Chan;J Cell Biol,1999

Cited by 13 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. Mosaic variegated aneuploidy in development, ageing and cancer;Nature Reviews Genetics;2024-08-21

2. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum;Clinical Genetics;2023-01-23

3. Bilallelic germline mutations in MAD1L1 induce a novel syndrome of aneuploidy with high tumor susceptibility;2022-08-08

4. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth;Molecular Genetics & Genomic Medicine;2022-04-17

5. Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family;Molecular Syndromology;2022

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