A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

por Huang, Aiping, Yuan, Yongyi, Liu, Yanping, Zhu, Qingwen, Dai, Pu
Publicado 2015

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

por Huang, Shasha, Huang, Bangqing, Wang, Guojian, Yuan, Yongyi, Dai, Pu
Publicado 2015

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

por Huang, Bang-qing, Zeng, Jia-ling, Yuan, Yong-yi, Dai, Pu
Publicado 2015

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss

por Wang, Qiuquan, Wu, Jie, Yang, Jinyuan, Huang, Shasha, Yuan, Yongyi, Dai, Pu
Publicado 2022

Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation

por Gu, Ping, Wang, Guojian, Gao, Xue, Kang, Dongyang, Dai, Pu, Huang, Shasha
Publicado 2022

Variant analysis of 92 Chinese Han families with hearing loss

por Jin, Xiaohua, Huang, Shasha, An, Lisha, Zhang, Chuan, Dai, Pu, Gao, Huafang, Ma, Xu
Publicado 2022

Outcomes of cochlear implantation in 75 patients with auditory neuropathy

por Wu, Jie, Chen, Jiyue, Ding, Zhiwei, Fan, Jialin, Wang, Qiuquan, Dai, Pu, Han, Dongyi
Publicado 2023

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

por Zhao, Jiandong, Yuan, Yongyi, Chen, Jing, Huang, Shasha, Wang, Guojian, Han, Dongyi, Dai, Pu
Publicado 2012

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

por Huang, Bangqing, Liu, Yanping, Gao, Xue, Xu, Jincao, Dai, Pu, Zhu, Qingwen, Yuan, Yongyi
Publicado 2017

A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency()

por Zou, Jing, Duan, Xiangqiang, Zheng, Guiliang, Zhao, Zhen, Chen, Shiyue, Dai, Pu, Zheng, Hongliang
Publicado 2016

Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

por Wu, Lihua, Liu, Yunliang, Wu, Jianman, Chen, Sheng, Tang, Shupin, Jiang, Yi, Dai, Pu
Publicado 2019

Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family

por Huang, Shasha, Gao, Xue, Wang, Yufeng, Kang, Dongyang, Zhang, Xin, Yang, Suyan, Dai, Pu
Publicado 2020

AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines

por Wong, Lee-Jun C, Dai, Pu, Lu, Jyh-Feng, Lou, Mary Ann, Clarke, Robert, Nazarov, Viktor
Publicado 2006

Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

por Yuan, Yongyi, Gao, Xue, Huang, Bangqing, Lu, Jingqiao, Wang, Guojian, Lin, Xi, Qu, Yan, Dai, Pu
Publicado 2016

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

por Fu, Ying, Huang, Shasha, Gao, Xue, Han, Mingyu, Wang, Guojian, Kang, Dongyang, Yuan, Yongyi, Dai, Pu
Publicado 2022

Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

por Gao, Xue, Yuan, Yong-Yi, Wang, Guo-Jian, Xu, Jin-Cao, Su, Yu, Lin, Xi, Dai, Pu
Publicado 2017

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

por Yuan, Yongyi, Yu, Fei, Wang, Guojian, Huang, Shasha, Yu, Ruili, Zhang, Xin, Huang, Deliang, Han, Dongyi, Dai, Pu
Publicado 2010

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

por Yang, Shuzhi, Dai, Pu, Liu, Xin, Kang, Dongyang, Zhang, Xin, Yang, Weiyan, Zhou, Chengyong, Yang, Shiming, Yuan, Huijun
Publicado 2013

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects

por Zhao, Jiandong, Yuan, Yongyi, Huang, Shasha, Huang, Bangqing, Cheng, Jing, Kang, Dongyang, Wang, Guojian, Han, Dongyi, Dai, Pu
Publicado 2014

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene

por Zhu, Yi-Ming, Li, Qi, Gao, Xue, Li, Yan-Fei, Liu, You-Li, Dai, Pu, Li, Xiang-Ping
Publicado 2021