A uniqueTBX5microdeletion with microinsertion detected in patient with Holt-Oram syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A uniqueTBX5microdeletion with microinsertion detected in patient with Holt-Oram syndrome

Published:2015-09-28 Issue:12 Volume:167 Page:3192-3196
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Morine Mikio¹,Kohmoto Tomohiro²³,Masuda Kiyoshi²,Inagaki Hidehito⁴,Watanabe Miki²³,Naruto Takuya⁵,Kurahashi Hiroki⁴,Maeda Kazuhisa¹,Imoto Issei²

Affiliation:

1. General Perinatal Medical Center; Shikoku Medical Center for Children and Adults; Zentsuji Japan

2. Department of Human Genetics; Institute of Biomedical Sciences; Tokushima University Graduate School; Tokushima Japan

3. Student Lab; Tokushima University Faculty of Medicine; Tokushima Japan

4. Division of Molecular Genetics; Institute for Comprehensive Medical Science; Fujita Health University; Toyoake Japan

5. Department of Stress Science; Institute of Biomedical Sciences; Tokushima University Graduate School; Tokushima Japan

Funder

JSPS KAKENHI

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37359/fullpdf

Reference19 articles.

1. The clinical and genetic spectrum of the Holt-Oram syndrome (heart hand syndrome);Basson;N Engl J Med,1994

2. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome;Basson;Nat Genet,1997

3. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations;Basson;Proc Natl Acad Sci USA,1999

4. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype;Brassington;Am J Hum Genet,2003

5. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease;Bruneau;Cell,2001

Cited by 1 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. Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review;Children;2023-04-29

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