复杂基因组变异导致Y连锁遗传性耳聋的机制研究
81530032
2015
H1405.耳鼻咽喉头颈发育相关疾病
王秋菊
重点项目
教授
中国人民解放军总医院
274万元
耳聋;Y连锁;基因组;拷贝数变异;发病机制
2016-01-01到2020-12-31
- 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 | 突发性聋住院患者安全评估体系的构建与临床应用 | 期刊论文 | 尹自芳;寇镓乐;冰丹;王大勇;赵立东;周玉虹;王秋菊 |
| 2 | Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy | 期刊论文 | Wang Hongyang;Wang Li;Yang Ju;Yin Linwei;Lan Lan;Li Jin;Zhang Qiujing;Wang Dayong;Guan Jing;Wang Qiuju |
| 3 | 基于深度学习方法的突发性聋预后分类研究 | 期刊论文 | 冰丹;应俊;兰兰;关静;谢林怡;赵立东;王大勇;王秋菊 |
| 4 | 低频相关常染色体显性遗传耳聋家系的临床与遗传学特征分析 | 期刊论文 | 吴侃;王洪阳;杨驹;赵翠;兰兰;王大勇;关静;王秋菊 |
| 5 | Understanding auditory neuropathy spectrum disorder: a systematic review in transgenic mouse models | 期刊论文 | Wang Li;Guan Jing;Wang Hongyang;Lan Lan;Zhang Qiujing;Zong Liang;Du Wan;Xiong Wenping;Li Fengjiao;Wu Kaiwen;Wang Dayong;Wang Qiuju |
| 6 | 正常成年Wistar大鼠短声及短纯音听性脑干反应波形分析 | 期刊论文 | 张超;李凤娇;王敏姣;赵艳;黄国威;杨驹;于宁;房琳;郭维维;薛希均;纵亮;关静;王秋菊 |
| 7 | Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome | 期刊论文 | Wang Li;Lin Qiong-Fen;Wang Hong-Yang;Guan Jing;Lan Lan;Xie Lin-Yi;Yu Lan;Yang Ju;Zhao Cui;Liang Jin-Long;Zhou Han-Lin;Yang Huan-Ming;Xiong Wen-Ping;Zhang Qiu-Jing;Wang Da-Yong;Wang Qiu-Ju |
| 8 | Recurrent de novoWFS1pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss | 期刊论文 | Guan Jing;Wang Hongyang;Lan Lan;Wu Yusen;Chen Guohui;Zhao Cui;Wang Dayong;Wang Qiuju |
| 9 | 272例突发性聋伴耳鸣患者耳鸣特征分析 | 期刊论文 | 尹自芳;寇镓乐;王大勇;关静;张丽娜;赵立东;王秋菊 |
| 10 | 家族性小耳畸形合并法洛四联症和脊柱侧弯综合征病例报道并文献复习 | 期刊论文 | 张秋静;王大勇;王秋菊 |
| 11 | 遗传性耳聋的基本概念(2) | 期刊论文 | 王秋菊;纵亮 |
| 12 | 听神经病患者听力转归与病程的相关性研究 | 期刊论文 | 冰丹;王洪阳;谢林怡;关静;兰兰;韩冰;王大勇;王秋菊 |
| 13 | Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China | 期刊论文 | Wang Qiuju;Xiang Jiale;Sun Jun;Yang Yun;Guan Jing;Wang Dayong;Song Cui;Guo Ling;Wang Hongyang;Chen Yaqiu;Leng Junhong;Wang Xiaman;Zhang Junqing;Han Bing;Zou Jing;Yan Chengbin;Zhao Lidong;Luo Hongyu;Han Yuan;Yuan Wen;Zhang Hongyun;Wang Wei;Wang Jian;Yang Huanming;Xu Xun;Yin Ye;Morton Cynthia C;Zhao Lijian... |
| 14 | 听神经病及亚型听突触病:声音编码与突触研究进展 | 期刊论文 | 王秋菊;Tobias Moser |
| 15 | 听神经病和梅尼埃病患者耳蜗电图振幅比与面积比差异分析 | 期刊论文 | 兰兰;汪明敏;韩冰;李兴启;谢林怡;熊芬;于黎明;王秋菊 |
| 16 | 大前庭水管综合征的诊断与遗传咨询 | 期刊论文 | 王秋菊;杜婉 |
| 17 | Comparison between Bilateral and Unilateral Sudden Sensorineural Hearing Loss | 期刊论文 | Bing Dan;Wang Da Yong;Lan Lan;Zhao Li Dong;Yin Zi Fang;Yu Lan;Chen Guo Hui;Guan Jing;Wang Qiu Ju |
| 18 | 耳鸣相关基因研究进展 | 期刊论文 | 于澜;王秋菊 |
| 19 | 胚胎植入前遗传学诊断应用于SLC26A4致聋突变家庭的临床研究 | 期刊论文 | 吴萧男;关静;马慜悦;熊文萍;王洪阳;赵翠;兰兰;彭红梅;王秋菊 |
| 20 | 不同类型听力损失伴耳鸣患者间隔感知特征分析 | 期刊论文 | 于澜;赵锦秀;冀飞;兰兰;张秋静;王洪阳;王大勇;王秋菊 |
| 21 | Identification of four TMC1 variations in different Chinese families with hereditary hearing loss | 期刊论文 | Wang Hongyang;Wu Kaiwen;Guan Jing;Yang Ju;Xie Linyi;Xiong Fen;Lan Lan;Wang Dayong;Wang Qiuju |
| 22 | A novel dominant GJB2 (DFNA3) mutation in a Chinese family | 期刊论文 | Wang Hongyang;Wu Kaiwen;Yu Lan;Xie Linyi;Xiong Wenping;Wang Dayong;Guan Jing;Wang Qiuju |
| 23 | 突发性聋的分型诊治与临床研究新进展 | 期刊论文 | 王秋菊;冰丹 |
| 24 | 采样盒(中国聋病基因组计划) | 专利 | 王秋菊;梁波;关静;孔令印 |
| 25 | DIAPH1基因相关性遗传性耳聋研究进展 | 期刊论文 | 吴侃;王秋菊 |
| 26 | 耳内科规培医师临床教学模式的思考 | 期刊论文 | 王大勇;赵辉;王洪阳;闫艳;兰兰;刘宸箐;赵立东;王秋菊 |
| 27 | High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder | 期刊论文 | Qiujing Zhang;Bing Han;Lan Lan;Liang Zong;Wei Shi;Hongyang Wang;Linyi Xie;hui Wang;Cui Zhao;Chao Zhang;Zifang Yin;Dayong Wang;Christine Petit;Jing Guan;Qiuju Wang |
| 28 | 免疫介导性内耳病的诊断和治疗研究进展 | 期刊论文 | 王浩然;王大勇;王秋菊 |
| 29 | Predicting the hearing outcome in sudden sensorineural hearing loss via machine learning models | 期刊论文 | Bing D;Ying J;Miao J;Lan L;Wang D;Zhao L;Yin Z;Yu L;Guan J;Wang Q |
| 30 | 年龄对突发性耳聋的预后影响 | 期刊论文 | 冰丹;兰兰;关静;王大勇;赵立东;谢林怡;王秋菊 |
| 31 | 隐性听力损失的发病机制及听力学表现 | 期刊论文 | 李国庆;吕萍;王秋菊 |
| 32 | Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment | 期刊论文 | Xiong WenPing;Wang DaYong;Gao Yuan;Gao Ya;Wang HongYang;Guan Jing;Lan Lan;Yan JunHao;Zong Liang;Yuan Yuan;Dong Wei;Huang SeXin;Wu KeLiang;Wang YaoShen;Wang ZhiLi;Peng HongMei;Lu YanPing;Xie LinYi;Zhao Cui;Wang Li;Zhang QiuJing;Gao Yun;Li Na;Yang Ju;Yin ZiFang;Han Bing;Wang Wei;Chen Zi-Jiang;QiuJu Wang |
| 33 | 听神经病患者噪声下言语测听临床应用与分析 | 期刊论文 | 兰兰;李清溪;谢林怡;熊芬;韩冰;王秋菊 |
| 34 | 新生儿听力与基因联合筛查的系统评价和Meta分析 | 期刊论文 | 张娇;王大勇;韩冰;周成勇;王秋菊 |
| 35 | Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11 | 期刊论文 | Li Lina;Yuan Hu;Wang Hongyang;Guan Jing;Lan Lan;Wang Dayong;Zong Liang;Liu Qiong;Han Bing;Huang Deliang;Wang Qiuju |
| 36 | PAX3基因突变相关Waardenburg综合征家系及散发患者基因型与表型特征分析 | 期刊论文 | 李进;关静;张静;谢林怡;熊芬;兰兰;王秋菊 |
| 37 | X-连锁遗传性耳聋 | 期刊论文 | 王秋菊;王洪阳 |
| 38 | 婴幼儿听神经病谱系障碍评估与管理的实践指南(一) | 期刊论文 | 王洪阳;于澜;张梦茜;龙越;熊芬;李进;应航;兰兰;关静;王秋菊 |
| 39 | 关注聋病遗传咨询中的罕见病 | 期刊论文 | 王秋菊;陈晓巍 |
| 40 | MYO15A与遗传性耳聋 | 期刊论文 | 张静;关静;王秋菊 |
| 41 | SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans | 期刊论文 | Guan Jing;Wang Dayong;Cao Wenjian;Zhao Yali;Du Renqian;Yuan Hu;Liu Qiong;Lan Lan;Zong Liang;Yang Ju;Yin Zifang;Han Bing;Zhang Feng;Wang Qiuju |
| 42 | 耳硬化症和中耳畸形患者的宽频声导抗研究 | 期刊论文 | 陈露静;兰兰;黄鑫;丁海娜;谢林怡;熊芬;韩维举;王秋菊 |
| 43 | Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss | 期刊论文 | Zhang Jing;Guan Jing;Wang Hongyang;Yin Linwei;Wang Dayong;Zhao Lidong;Zhou Huifang;Wang Qiuju |
| 44 | TMC1突变致遗传性耳聋的研究进展 | 期刊论文 | 吴楷文;王洪阳;王秋菊 |
| 45 | 双侧突发性聋患者血清胆红素与听力损失程度的相关性 | 期刊论文 | 冰丹;关静;王洪阳;兰兰;韩冰;王大勇;王秋菊 |
| 46 | 耳内科病房临床实践探索 | 期刊论文 | 尹自芳;王大勇;赵立东;周玉虹;王秋菊 |
| 47 | 婴幼儿听神经病谱系障碍评估与管理的实践指南(二) | 期刊论文 | 王洪阳;于澜;张梦茜;龙越;熊芬;李进;应航;兰兰;关静;王秋菊 |
| 48 | 中国迟发性非综合征性耳聋家系CEACAM16基因新突变的鉴定 | 期刊论文 | 张秋静;吴楷文;赵翠;谢林怡;熊芬;兰兰;王秋菊 |
| 49 | Temperature sensitive auditory neuropathy | 期刊论文 | Qiujing Zhang;Lan Lan;Wei Shi;Lan Yu;Lin-yi Xie;Fen Xiong;Cui Zhao;Na Li;Zifang Yin;Liang Zong;Jing Guan;Dayong Wang;Wei Sun;Qiuju Wang |
| 50 | High Frequency of AIFM1 Variants and Phenotype Progression of Auditory Neuropathy in a Chinese Population | 期刊论文 | Wang Hongyang;Bing Dan;Li Jin;Xie Linyi;Xiong Fen;Lan Lan;Wang Dayong;Guan Jing;Wang Qiuju |
| 51 | Clinical Study on 136 Children with Sudden Sensorineural Hearing Loss | 期刊论文 | Li Feng Jiao;Wang Da Yong;Wang Hong Yang;Wang Li;Yang Feng Bo;Lan Lan;Guan Jing;Yin Zi Fang;Rosenhall Ulf;Yu Lan;Hellstrom Sten;Xue Xi Jun;Duan Mao Li;Wang Qiu Ju |
| 52 | Novel de novo interstitial deletion in 2q36.1q36.3 causes syndromic hearing loss and further delineation of the 2q36 deletion syndrome | 期刊论文 | Guan Jing;Yin Linwei;Wang Hongyang;Chen Guohui;Zhao Cui;Wang Dayong;Wang Qiu Ju |
| 53 | NLRP3基因变异致听力损失的临床特征及研究进展 | 期刊论文 | 吴侃;王浩然;吴玉森;兰兰;熊芬;谢林怡;王洪阳;关静;王大勇;王秋菊 |
| 54 | 听神经病患者OTOF基因突变的遗传特征及其相关功能机制研究进展 | 期刊论文 | 高欣;张秋静;王大勇;王秋菊 |
| 55 | Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment | 期刊论文 | Wang Hong Yang;Zhao Ya Li;Liu Qiong;Yuan Hu;Gao Yun;Lan Lan;Yu Lan;Wang Da Yong;Guan Jing;Wang Qiu Ju |
| 56 | 听神经瘤患者最大言语识别率与时域间隔感知能力的分析 | 期刊论文 | 兰兰;邵莲美;熊芬;谢林怡;于澜;韩冰;王秋菊 |
| 57 | 伴周围神经病变听神经病患者的临床特征分析 | 期刊论文 | 宋蒙涛;王洪阳;兰兰;谢林怡;熊芬;王大勇;关静;王秋菊 |
| 58 | USH2A基因变异耳聋患者临床特征分析 | 期刊论文 | 吴玉森;关静;谢琳怡;熊芬;赵翠;兰兰;王大勇;王秋菊 |
| 59 | 常染色体隐性遗传性耳聋 | 期刊论文 | 王秋菊;袁永一 |
| 60 | 常染色体显性遗传性耳聋(1) | 期刊论文 | 王秋菊;刘穹 |
| 61 | A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases | 期刊论文 | Wang Hongyang;Guan Jing;Lan Lan;Yu Lan;Xie Linyi;Liu Xu;Yang Ju;Zhao Cui;Wang Dayong;Wang Qiuju |
| 62 | SOX10基因新突变的鉴定及其临床表型特征分析 | 期刊论文 | 张秋静;兰兰;谢林怡;赵翠;关静;王秋菊 |
| 63 | 遗传性耳聋的基本概念(1) | 期刊论文 | 王秋菊;纵亮 |
| 64 | 伴发单侧突发性聋的遗传性聋1例:GJB2 235delC纯合突变相关的迟发型中度听力损失 | 期刊论文 | 王洪阳;熊文萍;关静;王秋菊 |
| 65 | 线粒体DNA缺失综合征1例及文献回顾 | 期刊论文 | 朱玉华;张秋静;王秋菊 |
| 66 | 常染色体显性遗传性耳聋(2) | 期刊论文 | 王秋菊;王洪阳 |
| 67 | EMG修正对颈部及眼部前庭诱发肌源性电位的影响 | 期刊论文 | 于澜;赵苗苗;李清溪;刘兴健;谌国会;熊芬;谢林怡;兰兰;王大勇;吴子明;冀飞;赵立东;王秋菊 |
| 68 | 一种耳聋基因检测采样盒 | 专利 | 王秋菊;梁波;关静;孔令印 |
| 69 | 军事噪声性耳聋发生机制与干预研究 | 奖励 | 王秋菊;杨仕明;王大勇;于宁;韩维举;兰兰;冀飞;冰丹;尹自芳;关静;张秋静;王洪阳;李康康;胡拥军;鲍青山 |
| 70 | A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family | 期刊论文 | Du Wan;Han Ming-Kun;Wang Da-Yong;Han Bing;Zong Liang;Lan Lan;Yang Ju;Shen Qi;Xie Lin-Yi;Yu Lan;Guan Jing;Wang Qiu-Ju |
| 71 | Molecular genetic studies of familial Meniere's disease | 期刊论文 | Zhang Jing;Guan Jing;Wang Hongyang;Wang Dayong;Zhao Lidong;Zhou Huifang;Wang Qiuju |
| 72 | 伴耳鸣听神经病患者的随访研究 | 期刊论文 | 谢林怡;关静;熊芬;兰兰;王大勇;王秋菊 |
| 73 | 双侧突发性耳聋临床特征分析 | 期刊论文 | 王浩然;王大勇;冰丹;尹自芳;赵立东;谌国会;于澜;王洪阳;关静;王秋菊 |
| 74 | 耳聋的临床遗传咨询——走进基因组新医学时代 | 期刊论文 | 王秋菊;关静 |
| 75 | Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss | 期刊论文 | Wang Hongyang;Guan Jing;Guan Liping;Yang Ju;Wu Kaiwen;Lin Qiongfen;Xiong Wenping;Lan Lan;Zhao Cui;Xie Linyi;Yu Lan;Bing Dan;Zhao Lidong;Wang Dayong;Wang Qiuju |
| 76 | EYA4突变致DFNA10型遗传性耳聋的研究进展 | 期刊论文 | 吴楷文;关静;王秋菊 |
| 77 | A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family | 期刊论文 | Wu Kan;Wang Hongyang;Guan Jing;Lan Lan;Zhao Cui;Zhang Mengqian;Wang Dayong;Wang Qiuju |
| 78 | Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy | 期刊论文 | Julien Zanin;Thijs Dhollander;Gary Rance;Lan Yu;Lan;Hongyang Wang;Xin Lou;Alan Connelly;Bryony Nayagam;Qiuju Wang |
| 79 | 以波动性低频感音神经性聋为特征的疾病诊断与转归分析 | 期刊论文 | 吴侃;王大勇;王浩然;王洪阳;关静;赵立东;王秋菊 |
| 80 | Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss | 期刊论文 | Guan Jing;Wang Hongyang;Lan Lan;Wang Li;Yang Ju;Xie Linyi;Yin Zifang;Xiong Wenping;Zhao Lidong;Wang Dayong;Wang Qiuju |
| 81 | 听神经病:从发现到渐入精准 | 期刊论文 | 王秋菊;Arnold Starr |
| 82 | 关于《婴幼儿听神经病谱系障碍评估和处理指南》的解读与思考 | 期刊论文 | 熊芬;于澜;张梦茜;谢林怡;兰兰;王洪阳;刘海红;王秋菊 |
| 83 | Serum Bilirubin Level as a Potential Marker for the Hearing Outcome in Severe-Profound Bilateral Sudden Deafness. | 期刊论文 | Bing Dan;Wang Da Yong;Lan Lan;Zhao Li Dong;Yin Zi Fang;Yu Lan;Xie Lin Yi;Guan Jing;Wang Qiu Ju |
查看更多信息请先登录或注册
