Baraitser-Winter cerebrofrontofacial syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Baraitser-Winter cerebrofrontofacial syndrome

Published:2016-11-30 Issue:1 Volume:92 Page:3-9
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Yates T.M.¹,Turner C.L.²,Firth H.V.³,Berg J.⁴,Pilz D.T.⁵

Affiliation:

1. Department of Medical Genetics; University of Glasgow; Glasgow UK

2. Peninsula Clinical Genetics Service; Royal Devon and Exeter Hospital; Exeter UK

3. Addenbrooke's Hospital; Cambridge University Hospitals; Cambridge UK

4. Department of Clinical Genetics; Ninewells Hospital; Dundee UK

5. West of Scotland Genetics Service; Queen Elizabeth University Hospital; Glasgow UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12864/fullpdf

Reference40 articles.

1. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome;Baraitser;J Med Genet,1988

2. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome;Rivière;Nat Genet,2012

3. New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy and pachygyria of the frontal lobes;Fryns;J Med Genet,2000

4. Editorial comment - Cerebro-fronto-facial syndrome: three types?;Winter;Clin Dysmorphol,2001

5. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases;Verloes;Eur J Hum Genet,2015

Cited by 22 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. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

2. Prime-Editing of human ACTB in induced pluripotent stem cells to model human ACTB Loss-of-Function diseases and compensatory mechanisms;Stem Cell Research;2024-03

3. β-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination;The Journal of Immunology;2024-02-05

4. The actin cytoskeleton in hair bundle development and hearing loss;Hearing Research;2023-09

5. A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome;American Journal of Medical Genetics Part A;2023-02-21

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