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Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Fujinami-Yokokawa Y, et al. Among authors: yoshitake k. Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z. Sci Rep. 2020. PMID: 32533067 Free PMC article.
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: yoshitake 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.
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: yoshitake k. Ophthalmic Genet. 2016 Jun;37(2):161-9. doi: 10.3109/13816810.2014.991931. Epub 2014 Dec 12. Ophthalmic Genet. 2016. PMID: 25495949
269 results