聋病分子生物学

81222010
2012
H1405.耳鼻咽喉头颈发育相关疾病
杨涛
优秀青年科学基金项目
研究员
上海交通大学
100万元
遗传性耳聋;基因克隆;基因功能研究;基因型-表型关联;致病机制
2013-01至2015-12
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans 期刊论文 Pang Xiuhong;Chai Yongchuan;Sun Lianhua;Chen Dongye;Chen Ying;Zhang Zhihua;Wu Hao;Yang Tao
2 Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing 期刊论文 Yang Tao;Wei Xiaoming;Chai Yongchuan;Li Lei;Wu Hao
3 Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness 期刊论文 Wang Zhen tao;Chen Ying;Chen Dong ye;Chai Yong chuan;Pang Xiu hong;Sun Lian hua;Wang Xiao wen;Yang Tao;Wu Hao
4 A 1.6-Mb Microdeletion inChromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorderwithout Intellectual Disability 期刊论文 Pang X;Luo H;Chai Y;Wang X;Sun L;He L;Chen P;Wu H;Yang T
5 Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis 期刊论文 Chen Ying();Li Lei;Sun Lian-hua;Yang Tao;Wu Hao;Chen Ying;Li Lei;Sun Lian-hua;Yang Tao;Wu Hao;Wu H()
6 Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans 期刊论文 Yongchuan Chai;Xiuhong Pang;Dongye Chen;Lei Li;Ying Chen;Lianhua Sun;Xiaowen Wang;Hao Wu;Tao Yang
7 A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment 期刊论文 Zhang Luping();Hu Lingxiang();Chai Yongchuan;Pang Xiuhong;Yang Tao();Wu Hao()
8 A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family 期刊论文 Chai Yongchuan;Chen Dongye;Wang Xiaowen;Wu Hao;Yang Tao
9 TargetedNext-Generation Sequencing in Uyghur Families with Non-Syndromic SensorineuralHearing Loss 期刊论文 Sun L|Wang X|Yang T|Wu H|
10 Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma 期刊论文 Zhang Zhihua;Wang Zhaoyan;Sun Lianhua;Li Xiaohua;Huang Qi;Yang Tao;Wu Hao
11 Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder 期刊论文 Lu-ping Zhang|Yong-Chuan Chai|Tao Yang|Hao Wu|
12 ANovel Missense Mutation of NOG Interferes With the Dimerization of NOG andCauses Proximal Symphalangism Syndrome in a Chinese Family 期刊论文 Sun L|Jia H|Wu H|Yang T|
13 Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss 期刊论文 Ying Chen|Lianhua Sun|Tao Yang|Hao Wu|
14 The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes. 期刊论文 Chai YC;Chen DY;Sun LH;Li L;Chen Y;Pang XH;Zhang LP;Wu H;Yang T
15 A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations 期刊论文 Xiuhong Pang;Yongchuan Chai;Longxia He;Penghui Chen;Xiaowen Wang;Lei Li;Huan Jia;Hao Wu;Tao Yang
16 Identification of novel OTOF compound heterozygous mutations by targeted next-generation sequencing in a Chinese patient with auditory neuropathy spectrum disorder 期刊论文 Zhang, Lu-ping|Chai, Yong-Chuan|Yang, Tao|Wu, Hao|
17 Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family 期刊论文 Chen Dong Ye;Chai Yong Chuan;Yang Tao;Wu Hao
18 Mono-allelic mutations of SLC26A4 isover-presented in deaf patients with non-syndromic enlarged vestibular aqueduct 期刊论文 Pang X;Chai Y;Chen P;He L;Wang X;Wu H;Yang T
19 Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 期刊论文 Li, Lei|Li, Yun|Wu, Hao|Yang, Tao|
20 Characterization of Spectrum, de novo Rate andGenotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans 期刊论文 Chen Y|Zhang Z|Wu H|Yang T|
21 Identification of both MT-RNR1 m.1555A>G andbi-allelic GJB2 mutations in probands with non-syndromic hearing loss 期刊论文 Chen D|Chen Y|Wu H|Yang T|
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