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Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.
Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, Aoi T, Hashimoto K, Nakazawa T, Wada Y, Ueno S, Gao D, Murakami A, Hotta Y, Ikeda Y, Nishiguchi KM, Momozawa Y, Sonoda KH, Akiyama M, Fujimoto A. Sano Y, et al. Among authors: murakami a, murakami y. J Med Genet. 2022 Nov;59(11):1133-1138. doi: 10.1136/jmedgenet-2022-108428. Epub 2022 Jun 15. J Med Genet. 2022. PMID: 35710107 Free PMC article.
REP-1 gene mutations in Japanese patients with choroideremia.
Fujiki K, Hotta Y, Hayakawa M, Saito A, Mashima Y, Mori M, Yoshii M, Murakami A, Matsumoto M, Hayasaka S, Tagami N, Isashiki Y, Ohba N, Kanai A. Fujiki K, et al. Among authors: murakami a. Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):735-40. doi: 10.1007/s004170050305. Graefes Arch Clin Exp Ophthalmol. 1999. PMID: 10447648
Paraoxonase 1 gene polymorphisms influence clinical features of open-angle glaucoma.
Inagaki Y, Mashima Y, Funayama T, Ohtake Y, Fuse N, Yasuda N, Fukuchi T, Murakami A, Hotta Y. Inagaki Y, et al. Among authors: murakami a. Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):984-90. doi: 10.1007/s00417-005-0200-7. Epub 2006 Jan 13. Graefes Arch Clin Exp Ophthalmol. 2006. PMID: 16411107
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH. Koyanagi Y, et al. Among authors: murakami a, murakami y. J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17. J Med Genet. 2019. PMID: 31213501
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C. Nikopoulos K, et al. Among authors: murakami a. Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4. Nat Commun. 2019. PMID: 31253780 Free PMC article.
1,667 results