Contiguous gene deletions involvingEFNB1,OPHN1,PJA1andEDAin patients with craniofrontonasal syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00905.x/fullpdf
Reference25 articles.
1. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome;Wieland;Am J Hum Genet,2004
2. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome;Twigg;Proc Natl Acad Sci U S A,2004
3. Diverse roles of Eph receptors and ephrins in the regulation of cell migration and tissue assembly;Poliakov;Dev Cell,2004
4. Eph/ephrin signaling in morphogenesis, neural development and plasticity;Klein;Curr Opin Cell Biol,2004
5. Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox;Wieacker;Mol Genet Metab,2005
Cited by 33 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. Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models;Biomedicines;2022-12-06
2. Praja1 RING ‐finger E3 ubiquitin ligase is a common suppressor of neurodegenerative disease‐associated protein aggregation;Neuropathology;2022-06-14
3. mRNA expression analysis of the hippocampus in a vervet monkey model of fetal alcohol spectrum disorder;Journal of Neurodevelopmental Disorders;2022-03-19
4. Praja1 ubiquitin ligase facilitates degradation of polyglutamine proteins and suppresses polyglutamine-mediated toxicity;Molecular Biology of the Cell;2021-08-15
5. Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation;Molecular Syndromology;2021
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