大前庭水管综合征的相关研究进展

唐亮, 张劲 - 临床耳鼻咽喉头颈外科杂志, 2012 - lceh.whuhzzs.com
… ) is one of common non-syndromic hearing disorders.With the … reviewed related researches
of the large vestibular aqueduct … variants associated with non-syndromic hearing loss and …

南京地区耳聋患者常见耳聋基因突变的分析

徐丽娜, 高艳慧, 何双八 - 山东大学耳鼻喉眼学报, 2019 - ebhyxbwk.njournal.sdu.edu.cn
enlarged vestibular aqueduct in 11 patients, and 10 of them tested positive for SLC26A4
homozygous or heterozygous mutations… Chinese population with non-syndromic hearing loss[J]. …

湖北地区306 例极重度聋患儿基因芯片筛查分析

詹悦, 吴瑕, 胡钰娟, 黄翔, 段家德… - 临床耳鼻咽喉头颈 …, 2014 - lceh.whuhzzs.com
… gene mutation were detected enlarged vestibular aqueduct … Distribution and frequencies of
PDS (SLC26A4) mutations in … SLC26A4 in non-syndromic hearing loss patients with enlarged

大前庭水管综合征患儿听力学检测特点分析

刘佳星, 黄丽辉, 傅新星, 刘辉, 杨亚利… - 临床耳鼻咽喉头颈 …, 2016 - lceh.whuhzzs.com
large vestibular aqueduct syndrome mostly has the characteristics of high frequency
hearing lossvestibular aqueduct is caused by PDS mutations[J]. Hum Genet, 1999,104:188-192. …

6. 内耳奇形

野口佳裕 - Equilibrium Research, 2015 - jstage.jst.go.jp
Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS
mutations. … hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of …

非综合征型耳聋患儿十六项遗传性耳聋基因突变检测分析

满荣军, 张增, 路荣忠, 王孝, 孙士平… - 临床耳鼻咽喉头颈 …, 2015 - lceh.whuhzzs.com
Mutation analysis of 16 mutation spots related to children patients with non-syndromic
sensorineural hearing loss[J]… vestibular aqueduct is caused by PDS mutations[J].Hum Genet,1999,…

新型多基因检测技术对内蒙古自治区355 例非综合征性聋患者的检测分析

张迪, 段宏, 袁慧军, 韩东一 - 临床耳鼻咽喉头颈外科杂志, 2015 - lceh.whuhzzs.com
mutation screening.Method: Three hundred and fifty-five patients with severe non-syndromic
deafness … patients with early hearing loss with and without Enlarged Vestibular Aqueduct[J]. …

大前庭水管综合征住院患者临床诊疗分析

王大勇, 赵亚丽, 赵飞帆, 纵亮, 韩冰… - 临床耳鼻咽喉头颈 …, 2013 - lceh.whuhzzs.com
… in-patients with the large vestibular aqueduct syndrome(LVAS),… that patients suffering sudden
hearing loss got better curative … mutations in patients with enlarged vestibular aqueduct in …

[HTML][HTML] 42 例迟发性非综合征性耳聋患者基因型与临床表型分析

牛文侠, 许慧娟, 秦利涛, 王广科, 丁韶洸… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
mutation characteristics of GJB2 and SLC26A4 gene in patients with delayed non-syndromic
hearing loss… The CT findings of 19 cases showed single enlarged vestibular aqueduct, and …

河南省100 例非综合征型聋患者聋基因突变分析

杨爱利, 耿曼英, 张慧, 郭小艳, 汤建芬… - 临床耳鼻咽喉头颈外科 …, 2015 - lceh.whuhzzs.com
… Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in
… A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in …