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Taking the pulse: Preimplantation genetic testing for inherited cardiac conditions.

作者信息

Finn Caitlin M, Serpa Frans, Tahir Usman A

机构信息

Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA.

Harvard Medical School, Boston, MA.

出版信息

Genet Med Open. 2023 Jul 20;1(1):100827. doi: 10.1016/j.gimo.2023.100827. eCollection 2023.

DOI:10.1016/j.gimo.2023.100827
PMID:39669249
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11613555/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/615e/11613555/88d7f9a3fb75/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/615e/11613555/88d7f9a3fb75/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/615e/11613555/88d7f9a3fb75/gr1.jpg

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本文引用的文献

1
The 2020 "Padua Criteria" for Diagnosis and Phenotype Characterization of Arrhythmogenic Cardiomyopathy in Clinical Practice.2020年临床实践中致心律失常性心肌病诊断及表型特征的“帕多瓦标准”
J Clin Med. 2022 Jan 5;11(1):279. doi: 10.3390/jcm11010279.
2
Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study.遗传性心脏病患者行胚胎植入前遗传学诊断的决策和经验：一项定性研究。
Eur J Hum Genet. 2022 Feb;30(2):187-193. doi: 10.1038/s41431-021-00963-1. Epub 2021 Sep 21.
3
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
肌节蛋白基因突变携带者肥厚型心肌病的外显率。
J Am Coll Cardiol. 2020 Aug 4;76(5):550-559. doi: 10.1016/j.jacc.2020.06.011.
4
Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion.使用胚胎植入前遗传学检测（PGT-M）治疗成人发病的单基因缺陷：伦理委员会意见。
Fertil Steril. 2018 Jun;109(6):989-992. doi: 10.1016/j.fertnstert.2018.04.003.
5
Structural Competency and Reproductive Health.结构能力与生殖健康
AMA J Ethics. 2018 Mar 1;20(3):211-223. doi: 10.1001/journalofethics.2018.20.3.peer1-1803.
6
Comparative preimplantation genetic diagnosis policy in Europe and the USA and its implications for reproductive tourism.欧美植入前基因诊断政策比较及其对生殖旅游的影响
Reprod Biomed Soc Online. 2016 Dec;3:41-47. doi: 10.1016/j.rbms.2017.01.001.
7
Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies.成年人心肌肥厚型心肌病与当代管理策略相关的心血管死亡率低。
J Am Coll Cardiol. 2015 May 12;65(18):1915-28. doi: 10.1016/j.jacc.2015.02.061.
8
Cardiac genetic testing: a single-center pilot study of a Dominican population.心脏基因检测：多米尼加人群的单中心试点研究。
Hisp Health Care Int. 2014;12(4):183-8. doi: 10.1891/1540-4153.12.4.183.
9
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.基因型无法预测表型：深入理解人类遗传疾病中低外显率的分子基础。
Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3.
10
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.遗传性心律失常综合征不完全外显和表现度可变的决定因素。
Transl Res. 2013 Jan;161(1):1-14. doi: 10.1016/j.trsl.2012.08.005. Epub 2012 Sep 17.