• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Autosomal recessive atrial disease presenting with sick sinus syndrome (SSS), right atrial fibrosis and biatrial dilatation: Clinical impact of genetic diagnosis.

作者信息

De Regibus Valentina, Rordorf Roberto, Giorgianni Carmelina, Canclini Camilla, Vicentini Alessandro, Taravelli Erika, Petracci Barbara, Savastano Simone, De Servi Stefano, Arbustini Eloisa

机构信息

Department of Cardiology, University Hospital IRCCS Fondazione Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.

Centre for Inherited Cardiovascular Diseases, University Hospital IRCCS Fondazione Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.

出版信息

Int J Cardiol. 2016 Apr 1;208:67-9. doi: 10.1016/j.ijcard.2016.01.160. Epub 2016 Jan 9.

DOI:10.1016/j.ijcard.2016.01.160
PMID:26828384
Abstract
摘要

相似文献

1
Autosomal recessive atrial disease presenting with sick sinus syndrome (SSS), right atrial fibrosis and biatrial dilatation: Clinical impact of genetic diagnosis.常染色体隐性遗传性心房疾病伴病态窦房结综合征（SSS）、右心房纤维化和双房扩张：基因诊断的临床意义
Int J Cardiol. 2016 Apr 1;208:67-9. doi: 10.1016/j.ijcard.2016.01.160. Epub 2016 Jan 9.
2
Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.与SCN5A基因新的复合突变相关的常染色体隐性遗传性小儿病态窦房结综合征
Int J Cardiol. 2013 Sep 10;167(6):3078-80. doi: 10.1016/j.ijcard.2012.11.062. Epub 2012 Nov 28.
3
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.家族性病态窦房结综合征伴早发和主要男性特征的钠离子通道病。
Circ Arrhythm Electrophysiol. 2014 Jun;7(3):511-7. doi: 10.1161/CIRCEP.113.001340. Epub 2014 Apr 24.
4
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction.伴有HCN4基因突变的病态窦房结综合征发病早，且常与心房颤动和左心室心肌致密化不全相关。
Heart Rhythm. 2017 May;14(5):717-724. doi: 10.1016/j.hrthm.2017.01.020. Epub 2017 Jan 17.
5
A novel homozygous SCN5A variant detected in sick sinus syndrome.在病态窦房结综合征中发现的一种新型纯合 SCN5A 变异体。
Pacing Clin Electrophysiol. 2021 Feb;44(2):380-384. doi: 10.1111/pace.14077. Epub 2020 Oct 1.
6
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.携带有 SCN5A 变异的青少年病态窦房结综合征合并甲状腺功能减退症患者。
Int Heart J. 2022;63(3):627-632. doi: 10.1536/ihj.21-722.
7
A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.一种在家族性病态窦房结综合征中表现出多种临床表型的新型SCN5A突变。
Intern Med. 2013;52(16):1805-8. doi: 10.2169/internalmedicine.52.0085. Epub 2012 Mar 1.
8
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.与窦房结功能障碍、房性心律失常及起搏器夺获不良相关的功能丧失性SCN5A突变
Circ Arrhythm Electrophysiol. 2015 Oct;8(5):1105-12. doi: 10.1161/CIRCEP.115.003098. Epub 2015 Jun 25.
9
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).由心脏钠通道基因（SCN5A）隐性突变引起的先天性病态窦房结综合征。
J Clin Invest. 2003 Oct;112(7):1019-28. doi: 10.1172/JCI18062.
10
[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].[因SCN5A基因新突变导致的心脏窦房结功能障碍]
Arch Pediatr. 2012 Aug;19(8):837-41. doi: 10.1016/j.arcped.2012.04.017. Epub 2012 Jul 12.

引用本文的文献

1
Genetics and clinics: current applications, limitations, and future developments.遗传学与临床：当前应用、局限性及未来发展
Eur Heart J Suppl. 2019 Mar;21(Suppl B):B7-B14. doi: 10.1093/eurheartj/suz048. Epub 2019 Mar 29.