Mizobuchi K - Search Results

1

Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.

Nakajima A, Kuniyoshi K, Iwahashi C, Mano F, Hayashi T, Kondo H, Mizobuchi K, Matsushita I, Suga A, Yoshitake K, Nakano T, Iwata T, Matsumoto C, Kusaka S. Nakajima A, et al. Among authors: mizobuchi k. Front Med (Lausanne). 2023 Nov 16;10:1280564. doi: 10.3389/fmed.2023.1280564. eCollection 2023. Front Med (Lausanne). 2023. PMID: 38034549 Free PMC article.

2

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.

Katagiri S, Negishi Y, Mizobuchi K, Urashima M, Nakano T, Hayashi T. Katagiri S, et al. Among authors: mizobuchi k. J Ophthalmol. 2017;2017:1079687. doi: 10.1155/2017/1079687. Epub 2017 Aug 20. J Ophthalmol. 2017. PMID: 28912966 Free PMC article.

3

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: mizobuchi k. Ophthalmic Genet. 2018 Jun;39(3):357-365. doi: 10.1080/13816810.2018.1459737. Epub 2018 Apr 9. Ophthalmic Genet. 2018. PMID: 29630435

4

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y. Katagiri S, et al. Among authors: mizobuchi k. Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018. Mol Vis. 2018. PMID: 29681726 Free PMC article.

5

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Hosono K, et al. Among authors: mizobuchi k. Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z. Sci Rep. 2018. PMID: 29844330 Free PMC article.

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. 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

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.

Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T. Kutsuma T, et al. Among authors: mizobuchi k. Doc Ophthalmol. 2019 Jun;138(3):229-239. doi: 10.1007/s10633-019-09679-6. Epub 2019 Mar 15. Doc Ophthalmol. 2019. PMID: 30877594

8

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y. Kurata K, et al. Among authors: mizobuchi k. Int J Mol Sci. 2019 Mar 26;20(6):1518. doi: 10.3390/ijms20061518. Int J Mol Sci. 2019. PMID: 30917587 Free PMC article.

9

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y. Hayashi T, et al. Among authors: mizobuchi k. Doc Ophthalmol. 2020 Apr;140(2):147-157. doi: 10.1007/s10633-019-09727-1. Epub 2019 Oct 3. Doc Ophthalmol. 2020. PMID: 31583501

10

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

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