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复旦大学上海医学院 [5]
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期刊论文 [9]
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Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing
期刊论文
ACTA OTO-LARYNGOLOGICA, 2019, 卷号: 139, 期号: 3
作者:
Han, Peng
;
Wu, Xiaohui
;
Gao, Xingqiang
;
Zhou, Yulin
收藏
  |  
浏览/下载:20/0
  |  
提交时间:2019/12/05
Non-syndromic hearing loss
targeted next-generation sequencing
GJB2
MT-RNR1
genetic diagnosis
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
期刊论文
FRONTIERS OF MEDICINE, 2016, 卷号: 10, 期号: 2
作者:
Xia, Wenjun
;
Liu, Fei
;
Ma, Duan
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2019/12/05
hereditary non-syndromic hearing loss
mid-frequency hearing loss
deafness genes
Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss
期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2015, 卷号: 79, 期号: 6
作者:
Gu, Xiaodong
;
Sun, Shan
;
Guo, Luo
;
Lu, Xiaoling
;
Mei, Honglin
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/19
Non-syndromic sensorineural hearing loss
OTOGL
Whole exome sequencing
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
期刊论文
CLINICAL GENETICS, 2015, 卷号: 87, 期号: 6
作者:
Gu, X.
;
Guo, L.
;
Ji, H.
;
Sun, S.
;
Chai, R.
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/19
massively parallel sequencing
mutation screening
sporadic non-syndromic hearing loss
targeted genome enrichment
Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family
期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2014, 卷号: 78, 期号: 12
作者:
Lin, Fangzhu
;
Li, Dejun
;
Wang, Ping
;
Fan, Dongyan
;
De, Ji
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2019/12/05
TMC1
Non-syndromic hearing loss
ARNSHL
Tibetan Chinese
Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family
期刊论文
2014, 卷号: Vol.78 No.12, 页码: 2216-2221
作者:
Fangzhu Lin
;
Dejun Li
;
Ping Wang
;
Dongyan Fan
;
Ji De
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/04/16
TMC1
Non-syndromic
hearing
loss
ARNSHL
Tibetan
Chinese
A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations
期刊论文
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2013, 卷号: 77, 期号: 10, 页码: 1670-1676
作者:
Du, W
;
Guo, YF
;
Wang, CL
;
Wang, YL
;
Liu, XW
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2016/03/29
SLC26A4, IVS7-2A > G
p.H723R
Non-syndromic hearing loss (NSHL)
Meta-analysis
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
期刊论文
ACTA OTO-LARYNGOLOGICA, 2008, 卷号: 128, 期号: 3, 页码: 297-303
作者:
Guo, YF
;
Liu, XW
;
Guan, J
;
Han, MK
;
Wang, DY
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2016/03/29
prelingual deafness
non-syndromic hearing loss
genetic testing
Chinese
GG: A domain involved in phage LTF apparatus and implicated in human MEB and non-syndromic hearing loss diseases
期刊论文
FEBS LETTERS, 2006, 卷号: 580, 期号: 2
作者:
Guo, JH
;
Cheng, HP
;
Zhao, SY
;
Yu, L
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/27
GG domain
LTF apparatus
muscle-eye-brain disease
non-syndromic hearing loss
Gp35
POMGnT1
KIAA1199
FAM3 superfamily
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