未登录Ubap1l Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor MorphologyUbap1l基因敲除小鼠模型重现了患者中观察到的视网膜变性表型,并表现出不规则的光感受器形态。
Wang, Yingwei; Zhang, Shuhan; Zheng, Yuxi; Guo, Dongwei; Jiang, Yi; Ouyang, Jiamin; Sun, Wenmin; Li, Shiqiang; Xiao, Xueshan; Liang, Lingyi; Yi, Zhen; Zhang, Qingjiong
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收藏ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype
Wang, Yingwei; Wang, Pangfeng; Yi, Zhen; Ouyang, Jiamin; Jiang, Yi; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Hejtmancik, James Fielding; Sun, Wenmin; Zhang, Qingjiong
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收藏The Systemic Genotype-Phenotype Characterization of PAX6- Related Eye Disease in 164 Chinese Families
Jiang, Yi; Yi, Zhen; Zheng, Yuxi; Ouyang, Jiamin; Guo, Dongwei; Li, Shiqiang; Xiao, Xueshan; Wang, Panfeng; Sun, Wenmin; Zhang, Qingjiong
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收藏Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism
Wang, Yingwei; Sun, Wenmin; Xiao, Xueshan; Jiang, Yi; Ouyang, Jiamin; Wang, Junwen; Yi, Zhen; Li, Shiqiang; Jia, Xiaoyun; Wang, Panfeng; Hejtmancik, J. Fielding; Zhang, Qingjiong
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收藏The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High MyopiaLOXL3-Associated MYP28的遗传证实和临床特征: 隐性极高度近视的常见类型
Jiang, Yi; Zhou, Lin; Wang, Yingwei; Ouyang, Jiamin; Li, Shiqiang; Xiao, Xueshan; Jia, Xiaoyun; Wang, Junwen; Yi, Zhen; Sun, Wenmin; Jiao, Xiaodong; Wang, Panfeng; Hejtmancik, J. Fielding; Zhang, Qingjiong
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收藏Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance
Wang, Yingwei; Xiao, Xueshan; Li, Xueqing; Yi, Zhen; Jiang, Yi; Zhang, Fengsheng; Zhou, Lin; Li, Shiqiang; Jia, Xiaoyun; Sun, Wenmin; Wang, Panfeng; Zhang, Qingjiong
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收藏Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy
Wang, Junwen; Wang, Yingwei; Li, Shiqiang; Xiao, Xueshan; Yi, Zhen; Jiang, Yi; Li, Xueqing; Jia, Xiaoyun; Wang, Panfeng; Jin, Chenjin; Sun, Wenmin; Zhang, Qingjiong
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收藏Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center
Wang, Yingwei; Sun, Wenmin; Zhou, Jing; Li, Xueqing; Jiang, Yi; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Ouyang, Jiamin; Wang, Yueye; Zhou, Lin; Long, Yuxi; Liu, Mengchu; Li, Yongyu; Yi, Zhen; Wang, Panfeng; Zhang, Qingjiong
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收藏Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis
Yi, Zhen; Ouyang, Jiamin; Sun, Wenmin; Xiao, Xueshan; Li, Shiqiang; Jia, Xiaoyun; Wang, Panfeng; Zhang, Qingjiong
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