下一代测序在预测听力损失中的作用。 - Suppr

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超能文献

The role of next generation sequencing in predicting hearing loss.

作者信息

Skarżyński Henryk

机构信息

Institute of Physiology and Pathology of Hearing, World Hearing Center, Kajetany/Warsaw, Poland.

出版信息

Expert Rev Mol Diagn. 2021 Apr;21(4):347-348. doi: 10.1080/14737159.2021.1902313. Epub 2021 Mar 19.

DOI:10.1080/14737159.2021.1902313

PMID:33706655

Abstract

摘要

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The role of next generation sequencing in predicting hearing loss.下一代测序在预测听力损失中的作用。

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New testing guidelines for hearing loss support next-generation sequencing: testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically.听力损失的新检测指南支持下一代测序：该检测方法可能有助于确定临床表型不易区分的患者听力损失的遗传原因。

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[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology].[利用高通量基因捕获技术鉴定非综合征性听力损失患者中的新型常见突变]

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NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.二代测序揭示了一组患有孤立性、非DFNB1型听力损失的波兰患者听力损失的原因。

J Appl Genet. 2025 Aug 13. doi: 10.1007/s13353-025-00991-3.

Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations.基因突变作为一种非侵入性的成人人工耳蜗植入性能衡量标准：在具有特定 TMPRSS3 基因突变的患者中存在可变的结果。

PLoS One. 2023 Sep 15;18(9):e0291600. doi: 10.1371/journal.pone.0291600. eCollection 2023.

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?非综合征型听力损失的阴性分子诊断：下一步是什么？

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