中国人群重要致聋疾病的发病机制及听觉功能重建
81230020
2012
H14.耳鼻咽喉头颈科学
戴朴
重点项目
教授
中国人民解放军总医院
280万元
重度-极重度感音神经性耳聋;全外显子组测序;听觉功能重建;外显子捕捉;发病机制
2013-01-01到2017-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
查看更多信息请先登录或注册
查看更多信息请先登录或注册
查看更多信息请先登录或注册
| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China | 期刊论文 | Xin Feng;Yuan Yongyi;Deng Xiaoming;Han Mingyu;Wang Guojian;Zhao Jiandong;Gao Xue;Liu Jun;Yu Fei;Han Dongyi;Dai Pu |
| 2 | 常染色体显性遗传性综合征型聋基因研究进展 | 期刊论文 | 黄爱萍;朱庆文;袁永一 |
| 3 | De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome | 期刊论文 | Yuan Yongyi;Zhang Jianguo;Chang Qing;Zeng Jin;Xin Feng;Wang Jianjun;Zhu Qingyan;Wu Jing;Lu Jingqiao;Guo Weiwei;Yan Xukun;Jiang Hui;Zhou Binfei;Li Qi;Gao Xue;Yuan Huijun;Yang Shiming;Han Dongyi;Mao Zixu;Chen Ping;Lin Xi;Dai Pu |
| 4 | 十五项遗传性耳聋基因突变微隈列诊断芯片的临床应用研究 | 期刊论文 | 王国建;张冠斌;袁永一;黄莎莎;李元源;康东洋;程京;戴朴 |
| 5 | 双基因突变致聋病例分析。 | 期刊论文 | 黄莎莎;黄邦清;王国建;袁永一;康东洋;戴朴 |
| 6 | TMC1基因突变体及其应用 | 专利 | 高雪;戴朴;管李萍;朱庆燕;吴婧;王俊;汪建;杨焕明 |
| 7 | Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models | 期刊论文 | Huang Shasha;Wang Guojian;Jiang Yi;Yuan Yongyi;Han Dongyi;Song Yueshuai;Dai Pu |
| 8 | V-ATPase与耳聋相关的研究进展 | 期刊论文 | 辛凤;袁永一;戴朴 |
| 9 | 人工耳蜗电极设计策略和临床应用 | 期刊论文 | 辜萍;戴朴;马崇智 |
| 10 | 新生儿听力筛查未通过者的基因诊断 | 期刊论文 | 李琦;宋建敏;刘亚青;方如平;戴朴 |
| 11 | Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China | 期刊论文 | Yuan Yongyi;Guo Weiwei;Tang Jie;Zhang Guozheng;Wang Guojian;Han Mingyu;Zhang Xun;Yang Shiming;He David Z. Z.;Dai Pu |
| 12 | Effects of cochlear implant surgical technique on post-operative electrode impedance | 期刊论文 | Gu Ping;Jiang Yi;Gao Xue;Huang Shasha;Yuan Yongyi;Wang Guojian;Li Beicheng;Xi Xin;Dai Pu |
| 13 | The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals | 期刊论文 | Huang Shasha;Huang Bangqing;Wang Guojian;Yuan Yongyi;Dai Pu |
| 14 | GJB2显性突变在中国耳聋人群中的分布及表型分析 | 期刊论文 | 黄莎莎;黄邦清;袁永一;王国建;戴朴 |
| 15 | Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment | 期刊论文 | Gao Xue;Yuan Yong-Yi;Wang Guo-Jian;Xu Jin-Cao;Su Yu;Lin Xi;Dai Pu |
| 16 | 重度感音神经性耳聋致病机制及出生缺陷干预研究与应用 | 奖励 | 戴朴;冯永;袁慧军;袁永一;王国建;黄莎莎;韩明昱;金政策;梅凌云;贺楚峰 |
| 17 | 遗传性耳聋相关基因SLC26A4新突变致病性分析 | 期刊论文 | 高雪;辛凤;袁慧军;戴朴 |
| 18 | 耳聋-甲状腺肿综合征的临床诊断及分子病因分析 | 期刊论文 | 袁永一;黄莎莎;左路杰;张国正;戴朴 |
| 19 | 遗传性耳聋基因诊断芯片的研制及其临床应用 | 奖励 | 戴朴;李彩霞;王国建;邢婉丽;朱庆丰;高雪;程京;黄莎莎 |
| 20 | 老年性聋的诊治进展 | 期刊论文 | 朱玉华;戴朴 |
| 21 | Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population | 期刊论文 | Gao Xue;Huang Sha-Sha;Yuan Yong-Yi;Xu Jin-Cao;Gu Ping;Bai Dan;Kang Dong-Yang;Han Ming-Yu;Wang Guo-Jian;Zhang Mei-Guang;Li Jia;Dai Pu |
| 22 | 遗传性聋的精准医疗 | 期刊论文 | 袁永一;戴朴 |
| 23 | 目标序列捕获及平行测序在临床耳聋基因诊断中的应用 | 期刊论文 | 苏钰;汤文学;代志瑶;高雪;王国建;黄莎莎;康东洋;林曦;戴朴 |
| 24 | Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation | 期刊论文 | Yuan Yongyi;Gao Xue;Huang Bangqing;Lu Jingqiao;Wang Guojian;Lin Xi;Qu Yan;Dai Pu |
| 25 | Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family | 期刊论文 | Huang Aiping;Yuan Yongyi;Duan Naichao;Jiang Xinxia;Wang Baoshan;Liu Yanping;Kang Dongyang;Zhang Xin;Zhu Qingwen;Dai Pu |
| 26 | CHARGE综合征人工耳蜗植入 | 期刊论文 | 李万鑫;王宁;黄莎莎;李北成;戴朴 |
| 27 | 聋病基因筛查和耳聋防控新手段 | 期刊论文 | 袁永一;戴朴 |
| 28 | 基因治疗技术发展在耳聋治疗研究方面的应用 | 期刊论文 | 蒋刈;籍灵超;李北成;戴朴;韩东一 |
| 29 | 耳聋基因诊断——转化医学推动耳科学发展的范例 | 期刊论文 | 袁永一;戴朴 |
| 30 | Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family | 期刊论文 | Gao Xue;Su Yu;Chen Yu-Lan;Han Ming-Yu;Yuan Yong-Yi;Xu Jin-Cao;Xin Feng;Zhang Mei-Guang;Huang Sha-Sha;Wang Guo-Jian;Kang Dong-Yang;Guan Li-Ping;Zhang Jian-Guo;Dai Pu |
| 31 | 遗传性耳聋基因诊断芯片的研制及其临床应用 | 奖励 | 戴朴 |
| 32 | ATP6V1B2基因突变体及其应用 | 专利 | 袁永一;戴朴;戴梅枝;王丽娟;吴婧;王俊;汪建;杨焕明 |
| 33 | Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family | 期刊论文 | Gao Xue;Wang Guo-Jian;Yuan Yong-Yi;Xin Feng;Han Ming-Yu;Lu Jing-Qiao;Zhao Hui;Yu Fei;Xu Jin-Cao;Zhang Mei-Guang;Dong Jiang;Lin Xi;Dai Pu |
| 34 | 一种I型USHER综合征相关基因突变及应用此突变基因的耳聋分子病因学诊断试剂 | 专利 | 高雪;戴朴 |
| 35 | Analysis and Management of Complications in a Cohort of 1,065 Minimally Invasive Cochlear Implantations | 期刊论文 | Jiang Yi;Gu Ping;Li Beicheng;Gao Xue;Sun Baochun;Song Yueshuai;Wang Guojian;Yuan Yongyi;Wang Cuicui;Liu Miao;Han Dongyi;Dai Pu |
| 36 | 单核苷酸多态性在人类基因组学发展中的应用 | 期刊论文 | 蒋刈;戴朴;韩东一 |
| 37 | 遗传性耳聋家庭康复与预防模式的探讨 | 期刊论文 | 韩明昱;卢彦平;边旭明;汪龙霞;黄莎莎;王国建;康东洋;张昕;戴朴 |
| 38 | Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation. | 期刊论文 | Zhu Yuhua;Huang Shasha;Kang Dongyang;Han Mingyu;Wang Guojian;Yuan Yongyi;Su Yu;Yuan Huijun;Zhai Suoqiang;Dai Pu |
| 39 | Mutation Spectrum of CommonDeafness-Causing Genes in Patients with Non-Syndromic Deafness in the XiamenArea, China. | 期刊论文 | Jiang Y;Shasha Huang;Deng T;Wu L;Chen J;Kang D;Xu X;Li R;Han D;Dai P |
| 40 | 线粒体12SrRNAA1555G突变耳聋家系的异质率研究 | 期刊论文 | 朱玉华;翟所强;戴朴 |
| 41 | 耳聋分子诊断人才队伍的培养与建设 | 期刊论文 | 袁永一;王国建;韩明昱;戴朴 |
| 42 | Rapid identification of aminoglycoside-induced deafness gene mutations using multiplex real-time polymerase chain reaction | 期刊论文 | Huang Shasha;Xiang Guangxin;Kang Dongyang;Wang Chen;Kong Yanling;Zhang Xun;Liang Shujian;Mitchelson Keith;Xing Wanli;Dai Pu |
| 43 | Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss. | 期刊论文 | Gao X;Dai Pu |
| 44 | 临床耳聋基因诊断实验室构建及管理 | 期刊论文 | 康东洋;黄莎莎;袁永一;戴朴 |
| 45 | A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness | 期刊论文 | Huang Aiping;Yuan Yongyi;Liu Yanping;Zhu Qingwen;Dai Pu |
| 46 | Targeted gene capture and massively parallel sequencing identify TMC1 asthe causative gene in a six-generation Chinese family with autosomal dominanthearing loss. | 期刊论文 | Gao X;Shasha Huang;Yuan YY;Wang GJ;Xu JC;Ji YB;Han MY;Yu F;Kang DY;Lin X;Dai P |
| 47 | Mutations in the mitochondrial 12S rRNA gene in elderly Chinese people | 期刊论文 | Zhu Yuhua;Zhao Jiandong;Feng Bo;Su Yu;Kang Dongyang;Yuan Huijun;Zhai Suoqiang;Dai Pu |
| 48 | MYO15A基因突变体及其应用 | 专利 | 高雪;戴朴;朱庆燕;管李萍;王俊;汪建;杨焕明 |
| 49 | GJB2相关非综合征性感音神经性聋人工耳蜗植入后的疗效观察 | 期刊论文 | 蔡超婵;黄莎莎;高雪;黄邦清;袁永一;王国建;康东洋;韩东一;戴朴 |
| 50 | Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China | 期刊论文 | Zhi-yao Dai;Bao-chun Sun;Sha-sha Huang;Yuan Yongyi;Yu-hua Zhu;Yu Su;Pu Dai |
| 51 | 一个X连锁隐性遗传耳聋基因POU3F4的新突变 | 期刊论文 | 黄邦清;曾佳玲;苏钰;黄莎莎;袁永一;王国建;赵辉;戴朴 |
| 52 | A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2 | 期刊论文 | Huang Bangqing;Liu Yanping;Gao Xue;Xu Jincao;Dai Pu;Zhu Qingwen;Yuan Yongyi |
| 53 | Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family | 期刊论文 | Gao Xue;Su Yu;Guan Li-Ping;Yuan Yong-Yi;Huang Sha-Sha;Lu Yu;Wang Guo-Jian;Han Ming-Yu;Yu Fei;Song Yue-Shuai;Zhu Qing-Yan;Wu Jing;Dai Pu |
| 54 | A Novel Mutation in the TECTA Gene in a Chinese Family with Autosomal Dominant Nonsyndromic Hearing Loss | 期刊论文 | Su Yu;Tang Wen-Xue;Gao Xue;Yu Fei;Dai Zhi-Yao;Zhao Jian-Dong;Lu Yu;Ji Fei;Huang Sha-Sha;Yuan Yong-Yi;Han Ming-Yu;Song Yue-Shuai;Zhu Yu-Hua;Kang Dong-Yang;Han Dong-Yi;Dai Pu |
| 55 | 单侧大前庭水管综合征SLC26A4基因的突变分析 | 期刊论文 | 黄莎莎;黄邦清;董敏;孟肖肖;戴朴 |
| 56 | 遗传性耳聋相关基因SLC26A4新突变致病性分析 | 期刊论文 | 高雪;辛凤;袁慧军;戴朴 |
| 57 | GJB2、SLC26A4基因致病性突变与内耳CT表型关系的研究 | 期刊论文 | 孙宝春;代志瑶;黄莎莎;韩冰;袁永一;苏钰;康东洋;戴朴 |
| 58 | Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing | 期刊论文 | Gao Xue;Zhu Qing-yan;Song Yue-Shuai;Wang Guo-Jian;Yuan Yong-Yi;Xin Feng;Huang Sha-Sha;Kang Dong-Yang;Han Ming-Yu;Guan Li-ping;Zhang Jian-guo;Dai Pu |
| 59 | 遗传性聋的精准医疗 | 期刊论文 | 袁永一;戴朴 |
| 60 | Congenital Middle Ear Abnormalities With Absence of the Oval Window: Diagnosis, Surgery, and Audiometric Outcomes | 期刊论文 | Su Yu;Yuan Hu;Song Yue-shuai;Shen Wei-dong;Han Wei-ju;Liu Jun;Han Dong-yi;Dai Pu |
| 61 | 非综合征性前庭水管扩大患者拷贝数变异基因芯片筛查的分析 | 期刊论文 | 赵建东;袁永一;王国建;黄莎莎;戴朴 |
| 62 | GJB2基因听力学表型与基因型关系分析 | 期刊论文 | 代志瑶;孙宝春;黄莎莎;康东洋;张昕;董敏;袁永一;戴朴 |
| 63 | KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. | 期刊论文 | Zhao Jiandong;Yuan Yongyi;Huang Shasha;Huang Bangqing;Cheng Jing;Kang Dongyang;Wang Guojian;Han Dongyi;Dai Pu |
| 64 | 继续教育项目在耳聋基因诊断推广应用中的效果评估 | 期刊论文 | 王国建;袁永一;黄莎莎;韩明昱;康东洋;张昕;韩东一;戴朴 |
查看更多信息请先登录或注册
