Probable-pathogenic variants of <i>OTOF</i> identified in 76 patients.

NIAID Data Ecosystem2026-03-07 收录

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Probable-pathogenic variants of OTOF identified in 76 patients.

创建时间：

2011-09-15

Next Generation Sequencing Facilitates Quantitative Analysis of Wild Type and Pou4f3(Δ/+) Cochlear Transcriptomes. Next Generation Sequencing Facilitates Quantitative Analysis of Wild Type and Pou4f3(Δ/+) Cochlear Transcriptomes

耳蜗转录组学

遗传性耳聋

We report application of RNA-seq for transcriptomic analyses of cochlear tissues from wildtype and DFNA15 deafness mouse model Pou4f3(Δ/+) to reveal gene expressions altered by Pou4f3 mutation Overall

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Summary of clinical and molecular data for 4 Han Chinese subjects carrying the putative deafness-associated mutations in GJB2 gene.

遗传性耳聋

GJB2基因突变

a F female, M male. b PTA pure-tone audiometry. c dB decibel. d The (putative) pathogenic mutations were in bold. Summary of clinical and molecular data for 4 Han Chinese subjects carrying the putativ

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Mutational spectrum of subjects with DFNB9 in our cohort.

遗传性耳聋

基因突变

Mutational spectrum of subjects with DFNB9 in our cohort.

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A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population

遗传性耳聋

反向斑点杂交技术

BackgroundCongenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are cause

Figshare2017-05-16 更新50

The extremely rare nonsense mutation in the MARVELD2 gene results in deafness

遗传性耳聋

基因突变分析

A Chinese family from Hainan Province experienced non-syndromic hearing loss (NSHL). Peripheral venous blood samples were collected from 18 members of this family, and DNA was extracted for whole-exom

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Probable-pathogenic variants of <i>OTOF</i> identified in 76 patients.

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