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HTRA1 (high temperature requirement A serine peptidase 1) gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 (age-related maculopathy susceptibility 2) gene in patients with age-related macular degeneration.
Iejima D, Itabashi T, Kawamura Y, Noda T, Yuasa S, Fukuda K, Oka C, Iwata T. Iejima D, et al. Among authors: iwata t. J Biol Chem. 2015 Jan 30;290(5):2784-97. doi: 10.1074/jbc.M114.593384. Epub 2014 Dec 17. J Biol Chem. 2015. PMID: 25519903 Free PMC article.
A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration.
Yamashiro K, Mori K, Honda S, Kano M, Yanagi Y, Obana A, Sakurada Y, Sato T, Nagai Y, Hikichi T, Kataoka Y, Hara C, Koyama Y, Koizumi H, Yoshikawa M, Miyake M, Nakata I, Tsuchihashi T, Horie-Inoue K, Matsumiya W, Ogasawara M, Obata R, Yoneyama S, Matsumoto H, Ohnaka M, Kitamei H, Sayanagi K, Ooto S, Tamura H, Oishi A, Kabasawa S, Ueyama K, Miki A, Kondo N, Bessho H, Saito M, Takahashi H, Tan X, Azuma K, Kikushima W, Mukai R, Ohira A, Gomi F, Miyata K, Takahashi K, Kishi S, Iijima H, Sekiryu T, Iida T, Awata T, Inoue S, Yamada R, Matsuda F, Tsujikawa A, Negi A, Yoneya S, Iwata T, Yoshimura N. Yamashiro K, et al. Among authors: iwata t. Sci Rep. 2017 Aug 23;7(1):9196. doi: 10.1038/s41598-017-09632-0. Sci Rep. 2017. PMID: 28835685 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: iwata t. 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. Among authors: iwata t. Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z. Sci Rep. 2020. PMID: 32533067 Free PMC article.
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. Among authors: iwata t. 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.
2,086 results