Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2007.02531.x/fullpdf
Reference34 articles.
1. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): a view from the 21st century;Begbie;Postgrad Med J,2003
2. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease;Abdalla;J Med Genet,2006
3. Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians;Bayrak-Toydemir;Genet Med,2004
4. Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1;McAllister;Nat Genet,1994
5. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2;Johnson;Nat Genet,1996
Cited by 149 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. Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction;Journal of Clinical Medicine;2023-12-31
2. Hereditary Hemorrhagic Telangiectasia in a Young Adult: Gastrointestinal Arteriovenous Malformations as a Presenting Feature;Cureus;2023-08-22
3. A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family;European Archives of Oto-Rhino-Laryngology;2023-08-21
4. Impact of SARS-CoV-2 infection in patients with hereditary hemorrhagic telangiectasia: epidemiological and clinical data from the comprehensive Italian retrospective multicenter study;Internal and Emergency Medicine;2023-05-04
5. A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report;Journal of International Medical Research;2023-03
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