Yoshitake K - Search Results

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: yoshitake k. 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.

2

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: yoshitake k. Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932. Epub 2015 Jan 21. Ophthalmic Genet. 2015. PMID: 25605338

3

In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant.

Ueno S, Nakanishi A, Kominami T, Ito Y, Hayashi T, Yoshitake K, Kawamura Y, Tsunoda K, Iwata T, Terasaki H. Ueno S, et al. Among authors: yoshitake k. Jpn J Ophthalmol. 2017 Jan;61(1):92-98. doi: 10.1007/s10384-016-0484-7. Epub 2016 Oct 7. Jpn J Ophthalmol. 2017. PMID: 27718025

4

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T. Katagiri S, et al. Among authors: yoshitake k. Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. Ophthalmic Genet. 2018. PMID: 29630435

5

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.

Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T. Kawamura Y, et al. Among authors: yoshitake k. J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14. J Hum Genet. 2018. PMID: 29760528

6

Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X).

Mizobuchi K, Katagiri S, Hayashi T, Yoshitake K, Fujinami K, Kuniyoshi K, Mishima R, Tsunoda K, Iwata T, Nakano T. Mizobuchi K, et al. Among authors: yoshitake k. Am J Ophthalmol Case Rep. 2018 Dec 19;13:110-115. doi: 10.1016/j.ajoc.2018.12.019. eCollection 2019 Mar. Am J Ophthalmol Case Rep. 2018. PMID: 30619975 Free PMC article.

7

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: yoshitake k. Sci Rep. 2019 Nov 14;9(1):16851. doi: 10.1038/s41598-019-52660-1. Sci Rep. 2019. PMID: 31728034 Free PMC article.

8

Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.

Mizobuchi K, Hayashi T, Yoshitake K, Fujinami K, Tachibana T, Tsunoda K, Iwata T, Nakano T. Mizobuchi K, et al. Among authors: yoshitake k. Mol Genet Genomic Med. 2020 Aug;8(8):e1308. doi: 10.1002/mgg3.1308. Epub 2020 May 22. Mol Genet Genomic Med. 2020. PMID: 32441891 Free PMC article.

9

Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review.

Kayazawa T, Kuniyoshi K, Hatsukawa Y, Fujinami K, Yoshitake K, Tsunoda K, Shimojo H, Iwata T, Kusaka S. Kayazawa T, et al. Among authors: yoshitake k. Ophthalmic Genet. 2022 Jun;43(3):400-408. doi: 10.1080/13816810.2021.2023195. Epub 2022 Jan 13. Ophthalmic Genet. 2022. PMID: 35026968 Review.

10

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: yoshitake k. Retina. 2024 Oct 1;44(10):1836-1844. doi: 10.1097/IAE.0000000000004170. Retina. 2024. PMID: 39287548

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