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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM. Goto K, et al. Among authors: fujita k. J Med Genet. 2024 Mar 18:jmg-2023-109750. doi: 10.1136/jmg-2023-109750. Online ahead of print. J Med Genet. 2024. PMID: 38499336
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T. Nishiguchi KM, et al. Among authors: fujita k. Ophthalmology. 2019 Nov;126(11):1557-1566. doi: 10.1016/j.ophtha.2019.05.027. Epub 2019 Jun 6. Ophthalmology. 2019. PMID: 31257036
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Nishiguchi KM, Miya F, Mori Y, Fujita K, Akiyama M, Kamatani T, Koyanagi Y, Sato K, Takigawa T, Ueno S, Tsugita M, Kunikata H, Cisarova K, Nishino J, Murakami A, Abe T, Momozawa Y, Terasaki H, Wada Y, Sonoda KH, Rivolta C, Tsunoda T, Tsujikawa M, Ikeda Y, Nakazawa T. Nishiguchi KM, et al. Among authors: fujita k. Commun Biol. 2021 Jan 29;4(1):140. doi: 10.1038/s42003-021-01662-9. Commun Biol. 2021. PMID: 33514863 Free PMC article.
Anti-TRPM1 antibodies in patients with retinal degeneration.
Nishiguchi KM, Fujita K, Inoue T, Nakazawa T. Nishiguchi KM, et al. Among authors: fujita k. Clin Exp Ophthalmol. 2018 Dec;46(9):1087-1089. doi: 10.1111/ceo.13341. Epub 2018 Jul 1. Clin Exp Ophthalmol. 2018. PMID: 29927037 No abstract available.
5,071 results