Clinical utility gene card for: Long-QT Syndrome (types 1–13)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201328.pdf
Reference13 articles.
1. Splawski I, Shen J, Timothy KW et al: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000; 102: 1178–1185.
2. Tester DJ, Will ML, Haglund CM, Ackerman MJ : Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005; 2: 507–517.
3. Kapplinger JD, Tester DJ, Salisbury BA et al: Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009; 6: 1297–1303.
4. Schwartz PJ, Stramba-Badiale M, Crotti L et al: Prevalence of the congenital long-QT syndrome. Circulation 2009; 120: 1761–1767.
5. Kapa S, Tester DJ, Salisbury BA et al: Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009; 120: 1752–1760.
Cited by 10 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. Fetal Long QT Syndrome – Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy;Zeitschrift für Geburtshilfe und Neonatologie;2024-02-22
2. Combined loss of obscurin and obscurin-like 1 in murine hearts results in diastolic dysfunction, altered metabolism and deregulated mitophagy;2022-08-24
3. Omics technologies in personalized combination therapy for cardiovascular diseases: challenges and opportunities;Personalized Medicine;2021-11
4. NGS-Based genetic testing for heritable cardiovascular diseases. Specific requirements for obtaining informed consent;Molecular and Cellular Probes;2019-06
5. Genetische Diagnostik zur Vermeidung des plötzlichen Herztods;Der Internist;2018-06-25
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