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Year Number of Results
2004 1
2010 4
2011 1
2012 2
2013 2
2014 3
2015 1
2016 3
2017 2
2018 8
2019 6
2020 8
2021 9
2022 5
2023 2
2024 0

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49 results

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Page 1
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: hosono k. 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
Exophthalmos associated with chronic progressive external ophthalmoplegia.
Takeda Y, Suzuki H, Hosono K, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M. Takeda Y, et al. Among authors: hosono k. Jpn J Ophthalmol. 2022 May;66(3):314-319. doi: 10.1007/s10384-022-00920-5. Epub 2022 Apr 19. Jpn J Ophthalmol. 2022. PMID: 35438395
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Among authors: hosono k. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report.
Kurata K, Hosono K, Takayama M, Katsuno M, Saitsu H, Ogata T, Hotta Y. Kurata K, et al. Among authors: hosono k. Am J Ophthalmol Case Rep. 2022 Jan 20;25:101298. doi: 10.1016/j.ajoc.2022.101298. eCollection 2022 Mar. Am J Ophthalmol Case Rep. 2022. PMID: 35112026 Free PMC article.
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: hosono k. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.
Regional differences in genes and variants causing retinitis pigmentosa in Japan.
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Komori S, Gao D, 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: hosono k. Jpn J Ophthalmol. 2021 May;65(3):338-343. doi: 10.1007/s10384-021-00824-w. Epub 2021 Feb 25. Jpn J Ophthalmol. 2021. PMID: 33629268
49 results