• 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

Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!

作者信息

De Backer Julie, Muiño Mosquera Laura

机构信息

Center for Medical Genetics (J.D.B., L.M.M.), Ghent University Hospital, Belgium.

Department of Cardiology (J.D.B.), Ghent University Hospital, Belgium.

出版信息

Circ Genom Precis Med. 2023 Apr;16(2):e004104. doi: 10.1161/CIRCGEN.123.004104. Epub 2023 Mar 29.

DOI:10.1161/CIRCGEN.123.004104
PMID:36987916
Abstract
摘要

相似文献

1
Genetic Testing in Patients With Congenital Heart Disease: You Do No Harm When Using the Right Tools!先天性心脏病患者的基因检测:使用正确工具,无害可言!
Circ Genom Precis Med. 2023 Apr;16(2):e004104. doi: 10.1161/CIRCGEN.123.004104. Epub 2023 Mar 29.
2
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.从先天性心脏病患者的基因组测序中鉴定具有临床可操作性的变异。
Genet Med. 2019 May;21(5):1111-1120. doi: 10.1038/s41436-018-0296-x. Epub 2018 Oct 8.
3
Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.超越基因检测板:全外显子组测序用于先天性心脏病的诊断
Circ Genom Precis Med. 2018 Mar;11(3):e002097. doi: 10.1161/CIRCGEN.118.002097.
4
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.一种在外显子数据中识别导致先天性心脏病的临床可操作变异的筛选方法。
Circ Genom Precis Med. 2018 Mar;11(3):e001978. doi: 10.1161/CIRCGEN.117.001978.
5
Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.成人先天性心脏病的遗传咨询和检测:ESC 成人先天性心脏病工作组、ESC 主动脉和外周血管疾病工作组以及欧洲人类遗传学协会的共识文件。
Eur J Prev Cardiol. 2020 Sep;27(13):1423-1435. doi: 10.1177/2047487319854552. Epub 2019 Jun 11.
6
Genetic testing in congenital heart disease: ethical considerations.先天性心脏病的基因检测:伦理考量
World J Pediatr Congenit Heart Surg. 2013 Jan;4(1):53-7. doi: 10.1177/2150135112459523.
7
Current Practice of Genetic Testing and Counselling in Congenital Heart Disease: An Australian Perspective.先天性心脏病基因检测与咨询的当前实践:澳大利亚视角
Heart Lung Circ. 2020 Nov;29(11):1733-1736. doi: 10.1016/j.hlc.2020.07.013. Epub 2020 Aug 29.
8
Adults with congenital heart disease.
Lancet. 2003 Dec 6;362(9399):1942. doi: 10.1016/S0140-6736(03)14987-2.
9
Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting.单基因缺陷在产前环境中对先天性心脏左侧病变的影响。
Ultrasound Obstet Gynecol. 2020 Aug;56(2):225-232. doi: 10.1002/uog.21883.
10
Next-generation sequencing in congenital heart disease: do new brooms sweep clean?
J Am Coll Cardiol. 2014 Dec 16;64(23):2507-9. doi: 10.1016/j.jacc.2014.09.049.

引用本文的文献

1
Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.对1013名患有先天性心脏病的重症监护病房婴儿进行基因评估和检测的临床决策分析支持进行普遍基因检测。
Genes (Basel). 2024 Apr 18;15(4):505. doi: 10.3390/genes15040505.
2
Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.揭示先天性心脏病的遗传基础:最新进展及其对临床管理的意义。
CJC Pediatr Congenit Heart Dis. 2023 Oct 19;2(6Part B):464-480. doi: 10.1016/j.cjcpc.2023.10.008. eCollection 2023 Dec.
3
Looking at a baby's heart through the lens of the mother's blood.
透过母亲的血液观察婴儿的心脏。
EMBO Mol Med. 2023 Dec 7;15(12):e18680. doi: 10.15252/emmm.202318680. Epub 2023 Oct 16.