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Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T. Katagiri S, et al. Among authors: kuniyoshi k. Sci Rep. 2018 Jul 31;8(1):11507. doi: 10.1038/s41598-018-29891-9. Sci Rep. 2018. PMID: 30065301 Free PMC article.
Novel mutations in enhanced S-cone syndrome.
Kuniyoshi K, Hayashi T, Sakuramoto H, Nakao A, Sato T, Utsumi T, Tsuneoka H, Shimomura Y. Kuniyoshi K, et al. Ophthalmology. 2013 Feb;120(2):431.e1-6. doi: 10.1016/j.ophtha.2012.08.032. Ophthalmology. 2013. PMID: 23374571 No abstract available.
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: kuniyoshi k. PLoS One. 2014 Sep 30;9(9):e108721. doi: 10.1371/journal.pone.0108721. eCollection 2014. PLoS One. 2014. PMID: 25268133 Free PMC article.
Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.
Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Fujinami K, et al. Among authors: kuniyoshi k. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670. Invest Ophthalmol Vis Sci. 2016. PMID: 27623337
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T. Kondo H, et al. Among authors: kuniyoshi k. Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019. Hum Genome Var. 2019. PMID: 30652005 Free PMC article.
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance.
Kameya S, Fujinami K, Ueno S, Hayashi T, Kuniyoshi K, Ideta R, Kikuchi S, Kubota D, Yoshitake K, Katagiri S, Sakuramoto H, Kominami T, Terasaki H, Yang L, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Miyake Y, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Kameya S, et al. Among authors: kuniyoshi k. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. Invest Ophthalmol Vis Sci. 2019. PMID: 31390656
199 results