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2019 3
2020 11
2021 5
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Page 1
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Yang L, et al. Among authors: fujinami yokokawa y. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. Sci Rep. 2020. PMID: 32218477 Free PMC article.
Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S. Lie H, et al. Among authors: fujinami yokokawa y. Ophthalmic Genet. 2021 Apr;42(2):144-149. doi: 10.1080/13816810.2020.1861307. Epub 2020 Dec 29. Ophthalmic Genet. 2021. PMID: 33372566
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M. Georgiou M, et al. Among authors: fujinami yokokawa y. Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11. Am J Ophthalmol. 2021. PMID: 33309813 Free PMC article.
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Liu X, Meng X, Yang L, Long Y, Fujinami-Yokokawa Y, Ren J, Kurihara T, Tsubota K, Tsunoda K, Fujinami K, Li S; East Asia Inherited Retinal Disease Society Study Group. Liu X, et al. Among authors: fujinami yokokawa y. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):694-707. doi: 10.1002/ajmg.c.31838. Epub 2020 Aug 26. Am J Med Genet C Semin Med Genet. 2020. PMID: 32845068
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: fujinami yokokawa y. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3432-3446. doi: 10.1167/iovs.19-26650. Invest Ophthalmol Vis Sci. 2019. PMID: 31390656
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder.
Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Liu X, et al. Among authors: fujinami yokokawa y. Transl Vis Sci Technol. 2020 May 11;9(6):2. doi: 10.1167/tvst.9.6.2. eCollection 2020 May. Transl Vis Sci Technol. 2020. PMID: 32821499 Free PMC article.
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. Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z. Sci Rep. 2020. PMID: 32533067 Free PMC article.
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group. Fujinami K, et al. Among authors: fujinami yokokawa y. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):675-693. doi: 10.1002/ajmg.c.31830. Epub 2020 Sep 1. Am J Med Genet C Semin Med Genet. 2020. PMID: 32875684
Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population.
Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group. Fujinami K, et al. Among authors: fujinami yokokawa y. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):656-674. doi: 10.1002/ajmg.c.31826. Epub 2020 Aug 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 32820593
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