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Page 1
Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
Oishi A, Fujinami K, Mawatari G, Naoi N, Ikeda Y, Ueno S, Kuniyoshi K, Hayashi T, Kondo H, Mizota A, Shinoda K, Kusuhara S, Nakamura M, Iwata T, Tsujikawa A, Tsunoda K. Oishi A, et al. Among authors: mawatari g. Genes (Basel). 2021 Nov 18;12(11):1817. doi: 10.3390/genes12111817. Genes (Basel). 2021. PMID: 34828423 Free PMC article.
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
Mawatari G, Fujinami K, Liu X, Yang L, Yokokawa YF, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Mawatari G, et al. Hum Genome Var. 2019 Aug 2;6:34. doi: 10.1038/s41439-019-0065-7. eCollection 2019. Hum Genome Var. 2019. PMID: 31645972 Free PMC article.
Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants.
Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group. Mawatari G, et al. Hum Genome Var. 2020 Feb 10;7:3. doi: 10.1038/s41439-019-0086-2. eCollection 2020. Hum Genome Var. 2020. PMID: 32047640 Free PMC article.
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: mawatari g. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. Sci Rep. 2020. PMID: 32218477 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.
[No title available]
[No authors listed] [No authors listed] PMID: 33419980
[No title available]
[No authors listed] [No authors listed] PMID: 33558473
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques.
Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group. Fujinami-Yokokawa Y, et al. Br J Ophthalmol. 2021 Sep;105(9):1272-1279. doi: 10.1136/bjophthalmol-2020-318544. Epub 2021 Apr 20. Br J Ophthalmol. 2021. PMID: 33879469 Free PMC article.
CLEC3B is a novel causative gene for macular-retinal dystrophy.
Zhou R, Mawatari G, Cai XB, Shen RJ, Wang YH, Wang YT, Guo YM, Guo FY, Yuan J, Pan D, Nao-I N, Jin ZB. Zhou R, et al. Among authors: mawatari g. Genet Med. 2022 Jun;24(6):1249-1260. doi: 10.1016/j.gim.2022.02.012. Epub 2022 Mar 22. Genet Med. 2022. PMID: 35331648 Free article.
13 results