基因组拷贝数变异致听觉前庭功能异常的发生机制及干预研究
81730029
2017
H14.耳鼻咽喉头颈科学
戴朴
重点项目
主任医师
中国人民解放军总医院
292万元
干预;拷贝数变异;发生机制;前庭功能异常;听觉障碍
2018-01-01到2022-12-31
- 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 | SLC26A4基因突变患者人工耳蜗植入效果分析 | 期刊论文 | 许晖雁;袁永一;刘杰;黄莎莎;杨苏燕;康东洋;戴朴 |
| 2 | Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes | 期刊论文 | Xue Gao;Pu Dai;Yong-Yi Yuan |
| 3 | Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms | 期刊论文 | Xue Gao;Sha-Sha Huang;Shi-Wei Qiu;Yu Su;Wei-Qian Wang;Hui-Yan Xu;Jin-Cao Xu;Dong-Yang Kang;Pu Dai;Yong-Yi Yuan |
| 4 | Retrospective study of Langerhans cell histiocytosis in ear, nose and neck. | 期刊论文 | Guo Y;Ning F;Wang G;Li X;Liu J;Yuan Y;Dai P |
| 5 | Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss | 期刊论文 | Wei-Qian Wang;Xue Gao;Sha-Sha Huang;Dong-Yang Kang;Jin-Cao Xu;Kun Yang;Ming-Yu Han;Xin Zhang;Su-Yan Yang;Yong-Yi Yuan;Pu Dai |
| 6 | Multiple synostoses syndrome: Clinical report and retrospective analysis | 期刊论文 | Pan Zhaoyu;Lu Wei;Li Xiaohong;Huang Shasha;Dai Pu;Yuan Yongyi |
| 7 | Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family | 期刊论文 | Huang Shasha;Gao Xue;Wang Yufeng;Kang Dongyang;Zhang Xin;Yang Suyan;Dai Pu |
| 8 | Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls | 期刊论文 | Yuan Yongyi;Li Qi;Su Yu;Lin Qiongfen;Gao Xue;Liu Hankui;Huang Shasha;Kang Dongyang;Todd N. Wendell;Mattox Douglas;Zhang Jianguo;Lin Xi;Dai Pu |
| 9 | Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation | 期刊论文 | Chang Guo;Sha-Sha Huang;Yong-Yi Yuan;Ying Zhou;Ning Wang;Dong-Yang Kang;Su-Yan Yang;Xin Zhang;Xue Gao;Pu Dai |
| 10 | Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss | 期刊论文 | Gao Xue;Yuan Yong-Yi;Lin Qiong-Fen;Xu Jin-Cao;Wang Wei-Qian;Qiao Yue-Hua;Kang Dong-Yang;Bai Dan;Xin Feng;Huang Sha-Sha;Qiu Shi-Wei;Guan Li-Ping;Su Yu;Wang Guo-Jian;Han Ming-Yu;Jiang Yi;Liu Han-Kui;Dai Pu |
| 11 | Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients | 期刊论文 | Ying Fu;Shasha Huang;Xue Gao;Mingyu Han;Guojian Wang;Dongyang Kang;Yongyi Yuan;Pu Dai |
| 12 | Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene | 期刊论文 | Zhu Yi-Ming;Li Qi;Gao Xue;Li Yan-Fei;Liu You-Li;Dai Pu;Li Xiang-Ping |
| 13 | Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation | 期刊论文 | Ping Gu;Guojian Wang;Xue Gao;Dongyang Kang;Pu Dai;Shasha Huang |
| 14 | Two. SOX11. variants cause. Coffin–Siris. syndrome with a new feature of sensorineural hearing loss | 期刊论文 | Qiuquan Wang;Jie Wu;Jinyuan Yang;Shasha Huang;Yongyi Yuan;Pu Dai |
| 15 | Sequential Bilateral Cochlear Implantation in a Child with Severe External, Middle, and Inner Ear Malformations: Surgical Considerations and Practical Aspects | 期刊论文 | Zhang Dejun;Yuan Yongyi;Su Yu;Wang Guojian;Guo Chang;Wang Qiuquan;Gao Song;Dai Pu;Gao Xue |
| 16 | 第三代测序技术在遗传性耳聋基因拷贝数变异检测的临床应用 | 期刊论文 | 王秋权;黄莎莎;袁永一;康东洋;吴婕;张昕;戴朴 |
| 17 | Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases | 期刊论文 | Xiaohong Li;Shasha Huang;Yongyi Yuan;Yu Lu;Dejun Zhang;Xiaobin Wang;Huijun Yuan;Weiju Han;Pu Dai |
| 18 | Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10 | 期刊论文 | Xiaohong Li;Xue Gao;Shasha Huang;Mingyu Han;Dongyang Kang;Jinyuan Yang;Xiedong Wu;Qiuchen Zheng;Yongyi Yuan;Pu Dai;Guojian Wang |
| 19 | A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability | 期刊论文 | Weihao Zhao;Xue Gao;Shiwei Qiu;Bo Gao;Song Gao;Xin Zhang;Dongyang Kang;Weiju Han;Pu Dai;Yongyi Yuan |
| 20 | Transcriptome analysis of the early stage ifnlr1-mutant zebrafish indicates the immune response to auditory dysfunction | 期刊论文 | Wei-Qian Wang;Shi-Wei Qiu;Sha-Sha Huang;Guo-Jian Wang;Ming-Yu Han;Dong-Yang Kang;Yong-Yi Yuan;Xue Gao;Pu Dai |
| 21 | 耳聋遗传咨询从业人员继续教育模式的探讨 | 期刊论文 | 袁永一;王国建;戴朴 |
| 22 | Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family | 期刊论文 | Song Gao;Yi Jiang;Guojian Wang;Yongyi Yuan;Shasha Huang;Xue Gao;Xiaohong Li;Dejun Zhang;Jian Wu;Xiaowen Ji;Tao Deng;Ligang Wang;Dongyang Kang;Pu Dai |
| 23 | Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China | 期刊论文 | Pu Dai;Li Hui Huang;Guojian Wang;Xue Gao;Chun Yan Qu;Xiao Wei Chen;Fu Rong Ma;Jie Zhang;Wan Li Xing;Shu Yan Xi;Bin Rong Ma;Ying Pan;Xiao Hua Cheng;Hong Duan;Yongyi Yuan;Liping Zhao;Liang Chang;Ru Zhen Gao;Hai Hong Liu;Wei Zhang;Sha Sha Huang;Dong Yang Kang;Wei Liang;Ke Zhang;Hong Jiang;Yong Li Guo;Yi Zhou;Wan Xia Zhang;Fan Lyu;Ying Nan Jin;Zhen Zhou;Hong Li Lu;Xin Zhang;Ping Liu;Jia Ke;Jin Sheng Hao;Hai Meng Huang... |
| 24 | Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome | 期刊论文 | Xiaohong Li;Yu Su;Shasha Huang;Bo Gao;Dejun Zhang;Xiaobin Wang;Qin Gao;Hong Pang;Yan Zhao;Yongyi Yuan;Pu Dai |
| 25 | 遗传性耳聋基因筛查规范 | 期刊论文 | 中国耳聋基因筛查与诊断临床多中心研究协作组;全国防聋治聋技术指导组 |
| 26 | Gene4HL: An Integrated Genetic Database for Hearing Loss | 期刊论文 | Shasha Huang;Guihu Zhao;Jie Wu;Kuokuo Li;Qiuquan Wang;Ying Fu;Honglei Zhang;Qingling Bi;Xiaohong Li;Weiqian Wang;Chang Guo;Dejun Zhang;Lihua Wu;Xiaoge Li;Hui-Yan Xu;Mingyu Han;Xin Wang;Chen Lei;Xiaofang Qiu;Yang Li;Jinchen Li;Pu Dai;Yongyi Yuan |
| 27 | Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene | 期刊论文 | Xue Gao;Shi–Wei Qiu;Wei-Qian Wang;Dong-Yang Kang;Ning Su;Pu Dai;Yong–Yi Yuan |
| 28 | Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome | 期刊论文 | Guojian Wang;Xiaohong Li;Xue Gao;Yu Su;Mingyu Han;Bo Gao;Chang Guo;Dongyang Kang;Shasha Huang;Yongyi Yuan;Pu Dai |
| 29 | A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss | 期刊论文 | Dejun Zhang;Jie Wu;Yongyi Yuan;Xiaohong Li;Xue Gao;Mingyu Han;Song Gao;Shasha Huang;Pu Dai |
| 30 | Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families | 期刊论文 | Yu Su;Xue Gao;Sha-Sha Huang;Jing-Ning Mao;Bangqing Huang;Jian-Dong Zhao;Dong-Yang Kang;Xin Zhang;Pu Dai |
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