De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

por Huang, Xiaoyu, Rui, Xue, Zhang, Shuang, Qi, Xiaolong, Rong, Weining, Sheng, Xunlun
Publicado 2023

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families

por Zi, Feiyin, Li, Zhen, Cheng, Wanyu, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining
Publicado 2023

Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance

por Li, Zhen, Cheng, Wanyu, Zi, Feiyin, Wang, Juan, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining
Publicado 2023

Prognostic value of legumain in uveal melanoma

por WU, TONG, SUN, LEI, WU, YING, XIANG, RONG, LI, YUWEI, RONG, WEINING, SUN, FENGYUAN, WANG, NINGLI
Publicado 2016

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

por Sheng, Xunlun, Li, Zili, Zhang, Xinfang, Wang, Jing, Ren, Hongwang, Sun, Yanbo, Meng, Ruihua, Rong, Weining, Zhuang, Wenjuan
Publicado 2010

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity

por Yang, Shangying, Li, Zhen, Cheng, Wanyu, Ma, Meijiao, Qi, Rui, Rui, Xue, Ren, Yinghua, Sheng, Xunlun, Rong, Weining
Publicado 2022

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

por Rong, Weining, Chen, Xue, Zhao, Kanxing, Liu, Yani, Liu, Xiaoxing, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Sheng, Xunlun, Zhao, Chen
Publicado 2014

Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia

por Yuan, Shiqin, Huang, Xiaoyu, Zhang, Shuang, Yang, Shangying, Rui, Xue, Qi, Xiaolong, Wang, Xuhui, Zheng, Yali, Rong, Weining, Sheng, Xunlun
Publicado 2023

Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population

por Zhuang, Wenjuan, Yang, Peizeng, Li, Zili, Sheng, Xunlun, Zhao, Jingjing, Li, Shanshan, Yang, Xueqiu, Xiang, Wei, Rong, Weining, Liu, Yani, Zhang, Fangxia
Publicado 2012

Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

por Chen, Xue, Sheng, Xunlun, Liu, Xiaoxing, Li, Huiping, Liu, Yani, Rong, Weining, Ha, Shaoping, Liu, Wenzhou, Kang, Xiaoli, Zhao, Kanxing, Zhao, Chen
Publicado 2014

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

por Chen, Xue, Liu, Xiaoxing, Sheng, Xunlun, Gao, Xiang, Zhang, Xiumei, Li, Zili, Li, Huiping, Liu, Yani, Rong, Weining, Zhao, Kanxing, Zhao, Chen
Publicado 2015

Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia

por Sheng, Xunlun, Chen, Xue, Lei, Bo, Chen, Rui, Wang, Hui, Zhang, Fangxia, Rong, Weining, Ha, Ruoshui, Liu, Yani, Zhao, Feng, Yang, Peizeng, Zhao, Chen
Publicado 2015

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

por Minegishi, Yuriko, Sheng, XunLun, Yoshitake, Kazutoshi, Sergeev, Yuri, Iejima, Daisuke, Shibagaki, Yoshio, Monma, Norikazu, Ikeo, Kazuho, Furuno, Masaaki, Zhuang, Wenjun, Liu, Yani, Rong, Weining, Hattori, Seisuke, Iwata, Takeshi
Publicado 2016