Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2,239 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A, Mizobuchi K, Inooka T, Yoshitake K, Minematsu N, Tsunoda K, Kuniyoshi K, Kawai Y, Omae Y, Tokunaga K; NCBN Controls WGS Consortium; Hayashi T, Ueno S, Iwata T. Suga A, et al. Among authors: ueno s. Genet Med Open. 2024 Mar 26;2:101843. doi: 10.1016/j.gimo.2024.101843. eCollection 2024. Genet Med Open. 2024. PMID: 39669618 Free PMC article.
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
Mizobuchi K, Hayashi T, Katagiri S, Yoshitake K, Fujinami K, Yang L, Kuniyoshi K, Shinoda K, Machida S, Kondo M, Ueno S, Terasaki H, Matsuura T, Tsunoda K, Iwata T, Nakano T. Mizobuchi K, et al. Among authors: ueno s. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. Sci Rep. 2019. PMID: 31728034 Free PMC article.
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN.
Inooka T, Hayashi T, Tsunoda K, Kuniyoshi K, Kondo H, Mizobuchi K, Suga A, Iwata T, Yoshitake K, Kondo M, Goto K, Ota J, Kominami T, Nishiguchi KM, Ueno S. Inooka T, et al. Among authors: ueno s. Retina. 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. Retina. 2024. PMID: 39287548
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. Among authors: ueno s. 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.
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: ueno s. 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.
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A, Yoshitake K, Minematsu N, Tsunoda K, Fujinami K, Miyake Y, Kuniyoshi K, Hayashi T, Mizobuchi K, Ueno S, Terasaki H, Kominami T, Nao-I N, Mawatari G, Mizota A, Shinoda K, Kondo M, Kato K, Sekiryu T, Nakamura M, Kusuhara S, Yamamoto H, Yamamoto S, Mochizuki K, Kondo H, Matsushita I, Kameya S, Fukuchi T, Hatase T, Horiguchi M, Shimada Y, Tanikawa A, Yamamoto S, Miura G, Ito N, Murakami A, Fujimaki T, Hotta Y, Tanaka K, Iwata T. Suga A, et al. Among authors: ueno s. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.
Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, Torii K, Mizota A, Sakai D, Maeda A, Kominami T, Ueno S, Kusaka S, Nishiguchi KM, Ikeda Y, Kondo M, Tsunoda K, Hotta Y, Nakano T. Mizobuchi K, et al. Among authors: ueno s. Am J Ophthalmol. 2024 Aug;264:36-43. doi: 10.1016/j.ajo.2024.03.007. Epub 2024 Mar 16. Am J Ophthalmol. 2024. PMID: 38499139 Free article.
2,239 results