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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 28, 2023. (Total: 221530Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Myopia and RPGR[original query]
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72.
Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio
Exome sequencing study of 20 patients with high myopia.
PeerJ 2018 9 6 e5552.
Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Experimental eye research 2018 2 171 76-91.
Zhou Lin, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Zhang Qingjio
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
International journal of molecular sciences 2019 3 20 (6): .
Kurata Kentaro, Hosono Katsuhiro, Hayashi Takaaki, Mizobuchi Kei, Katagiri Satoshi, Miyamichi Daisuke, Nishina Sachiko, Sato Miho, Azuma Noriyuki, Nakano Tadashi, Hotta Yoshihi
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
Investigative ophthalmology & visual science 2020 12 61 (14): 36.
Di Iorio Valentina, Karali Marianthi, Melillo Paolo, Testa Francesco, Brunetti-Pierri Raffaella, Musacchia Francesco, Condroyer Christel, Neidhardt John, Audo Isabelle, Zeitz Christina, Banfi Sandro, Simonelli Frances
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