A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

Published:2008-01 Issue:1 Volume:29 Page:33-38
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Frederic Melissa Yana,Hamroun Dalil,Faivre Laurence,Boileau Catherine,Jondeau Guillaume,Claustres Mireille,Béroud Christophe,Collod-Béroud Gwenaëlle

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference62 articles.

1. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations;Ades;Am J Med Genet,2002

2. Activation of signalling by the activin receptor complex;Attisano;Mol Cell Biol,1996

3. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases;Beroud;Hum Mutat,2000

4. UMD (Universal Mutation Database): 2005 update;Beroud;Hum Mutat,2005

5. Molecular genetics of Marfan syndrome;Boileau;Curr Opin Cardiol,2005

Cited by 26 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. Molecular genetic characterization of sudden deaths due to thoracic aortic dissection or rupture;Cardiovascular Pathology;2023-07

2. HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection;Genetics in Medicine;2022-12

3. MARFAN SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

4. Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation;European Journal of Medical Genetics;2017-06

5. Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling;Molecular Case Studies;2017-04-14

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