CORC

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CORC

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Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice 期刊论文
EXPERIMENTAL EYE RESEARCH, 2018, 卷号: 166, 期号: 6, 页码: 120-130
作者:  Eblimit, A (Eblimit, Aiden);  Agrawal, SA (Agrawal, Smriti Akshay);  Thomas, K (Thomas, Kandace);  Anastassov, IA (Anastassov, Ivan Assenov);  Abulikemu, T (Abulikemu, Tajiguli)
收藏  |  浏览/下载：42/0  |  提交时间：2018/02/25
Applications of CRISPR/Cas9 in retinal degenerative diseases 期刊论文
International Journal of Ophthalmology, 2017, 卷号: 10, 期号: 4, 页码: 646-651
作者:  Ying-Qian Peng;  Luo-Sheng Tang;  Shigeo Yoshida;  Ye-Di Zhou
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients 期刊论文
2017, 卷号: 8, 期号: 21, 页码: 35176
作者:  Huang, Hui[1];  Wang, Ying[2,3];  Chen, Huishuang[1];  Chen, Yanhua[1,4];  Wu, Jing[1]
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/06
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene 期刊论文
2017, 卷号: 58, 期号: 8
作者:  Branch, Justin;  Soens, Zachary;  Li, Yumei;  Wang, Keqing;  Xu, Mingchu
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/04
Validating splice altering 'variants of uncertain significance' in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene 会议论文
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017-06-01
作者:  Branch, Justin;  Soens, Zachary;  Li, Yumei;  Wang, Keqing;  Xu, Mingchu
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04
Dimerization of visual pigments in vivo 期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016
Zhang, Tao; Cao, Li-Hui; Kumar, Sandeep; Enemchukwu, Nduka O.; Zhang, Ning; Lambert, Alyssia; Zhao, Xuchen; Jones, Alex; Wang, Shixian; Dennis, Emily M.; Fnu, Amrita; Ham, Sam; Rainier, Jon; Yau, King-Wai; Fu, Yingbin
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort 期刊论文
2015, 卷号: 56, 期号: 6, 页码: 3642-3655
作者:  Wang, Hui;  Wang, Xia;  Zou, Xuan;  Xu, Shan;  Li, Hui
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
De novo Mutations in the Cone-rod Homeobox Gene Associated with Leber Congenital Amaurosis in Chinese Patients 期刊论文
2015, 卷号: 36, 期号: 1, 页码: 21-26
作者:  Zou, Xuan;  Yao, Fengxia;  Liang, Xiaofang;  Xu, Fei;  Li, Hui
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy 期刊论文
human mutation, 2014
Beck, Bodo B.; Phillips, Jennifer B.; Bartram, Melte P.; Wegner, Jeremy; Thoenes, Michaele; Pannes, Andrea; Sampson, Josephina; Heller, Raoul; Goebel, Heike; Koerber, Friederike; Neugebauer, Antje; Hedergott, Andrea; Nuernberg, Gudrun; Nuernberg, Peter; Thiele, Holger; Altmueller, Janine; Toliat, Mohammad R.; Staubach, Simon; Boycott, Kym M.; Valente, Enza Maria; Janecke, Andreas R.; Eisenberger, Tobias; Bergmann, Carsten; Tebbe, Lars; Wang, Yang; Wu, Yundong; Fry, Andrew M.; Westerfield, Monte; Wolfrum, Uwe; Bolz, Hanno J.
收藏  |  浏览/下载：4/0  |  提交时间：2015/11/11
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial 期刊论文
2014, 卷号: 384, 期号: 9953, 页码: 1513-20
作者:  Koenekoop Robert K;  Sui Ruifang;  Sallum Juliana;  van den Born L Ingeborgh;  Ajlan Radwan
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13

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