A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome

por Li, Sijun, Qin, Mengyao, Mao, Shuang, Mei, Lingyun, Cai, Xinzhang, Feng, Yong, He, Chufeng, Song, Jian
Publicado 2022

Short-term effects of intravenous batroxobin in treatment of sudden sensorineural hearing loss: a propensity score-matched study

por Jiang, Mengzhu, Huang, Huping, Mei, Lingyun, He, Chufeng, Cai, Xinzhang, Jiang, Lu, Wu, Hong, Wang, Xin, Wu, Xuewen
Publicado 2023

A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Developme...

por Wen, Jie, Song, Jian, Bai, Yijiang, Liu, Yalan, Cai, Xinzhang, Mei, Lingyun, Ma, Lu, He, Chufeng, Feng, Yong
Publicado 2021

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

por Li, Wu, Mei, Lingyun, Chen, Hongsheng, Cai, Xinzhang, Liu, Yalan, Men, Meichao, Liu, Xue Zhong, Yan, Denise, Ling, Jie, Feng, Yong
Publicado 2019

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing

por Liu, Yalan, Wang, Lili, Feng, Yong, He, Chufeng, Liu, Deyuan, Cai, Xinzhang, Jiang, Lu, Chen, Hongsheng, Liu, Chang, Wu, Hong, Mei, Lingyun
Publicado 2016

Downregulation of p66Shc can reduce oxidative stress and apoptosis in oxidative stress model of marginal cells of stria vascularis in Sprague Dawley rats

por Hao, Cong, Wu, Xuewen, Zhou, Ruoyu, Zhang, Hao, Zhou, Yulai, Wang, Xinxing, Feng, Yong, Mei, Lingyun, He, Chufeng, Cai, Xinzhang, Wu, Lisha
Publicado 2019

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

por Niu, Zhijie, Feng, Yong, Mei, Lingyun, Sun, Jie, Wang, Xueping, Wang, Juncheng, Hu, Zhengmao, Dong, Yunpeng, Chen, Hongsheng, He, Chufeng, Liu, Yalan, Cai, Xinzhang, Liu, Xuezhong, Jiang, Lu
Publicado 2017

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families

por Sang, Shushan, Ling, Jie, Liu, Xuezhong, Mei, Lingyun, Cai, Xinzhang, Li, Taoxi, Li, Wu, Li, Meng, Wen, Jie, Liu, Xianlin, Liu, Jing, Liu, Yalan, Chen, Hongsheng, He, Chufeng, Feng, Yong
Publicado 2019

New ZNF644 mutations identified in patients with high myopia

por Xiang, Xinying, Wang, Tianyun, Tong, Ping, Li, Yunping, Guo, Hui, Wan, Anran, Xia, Lu, Liu, Yanling, Li, Ying, Tian, Qi, Shen, Lu, Cai, Xinzhang, Tian, Lei, Jin, Xuemin, Xia, Kun, Hu, Zhengmao
Publicado 2014

A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

por Jang, Minwoo Wendy, Oh, Doo-Yi, Yi, Eunyoung, Liu, Xuezhong, Ling, Jie, Kim, Nayoung, Sharma, Kushal, Kim, Tai Young, Lee, Seungmin, Kim, Ah-Reum, Kim, Min Young, Kim, Min-A, Lee, Mingyu, Han, Jin-Hee, Han, Jae Joon, Park, Hye-Rim, Kim, Bong Jik, Lee, Sang-Yeon, Woo, Dong Ho, Oh, Jayoung, Oh, Soo-Jin, Du, Tingting, Koo, Ja-Won, Oh, Seung-Ha, Shin, Hyun-Woo, Seong, Moon-Woo, Lee, Kyu-Yup, Kim, Un-Kyung, Shin, Jung Bum, Sang, Shushan, Cai, Xinzhang, Mei, Lingyun, He, Chufeng, Blanton, Susan H., Chen, Zheng-Yi, Chen, Hongsheng, Liu, Xianlin, Nourbakhsh, Aida, Huang, Zaohua, Kang, Kwon-Woo, Park, Woong-Yang, Feng, Yong, Lee, C. Justin, Choi, Byung Yoon
Publicado 2021