Kameya S - Search Results

1

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: kameya s. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460

2

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6.

Kameya S, Hawes NL, Chang B, Heckenlively JR, Naggert JK, Nishina PM. Kameya S, et al. Hum Mol Genet. 2002 Aug 1;11(16):1879-86. doi: 10.1093/hmg/11.16.1879. Hum Mol Genet. 2002. PMID: 12140190

3

A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. Kabuto T, et al. Among authors: kameya s. Mol Vis. 2012;18:1031-9. Epub 2012 Apr 24. Mol Vis. 2012. PMID: 22605915 Free PMC article.

4

High-resolution en face images of microcystic macular edema in patients with autosomal dominant optic atrophy.

Gocho K, Kikuchi S, Kabuto T, Kameya S, Shinoda K, Mizota A, Yamaki K, Takahashi H. Gocho K, et al. Among authors: kameya s. Biomed Res Int. 2013;2013:676803. doi: 10.1155/2013/676803. Epub 2013 Nov 28. Biomed Res Int. 2013. PMID: 24369534 Free PMC article.

5

High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation.

Gocho K, Kameya S, Akeo K, Kikuchi S, Usui A, Yamaki K, Hayashi T, Tsuneoka H, Mizota A, Takahashi H. Gocho K, et al. Among authors: kameya s. J Ophthalmol. 2014;2014:283603. doi: 10.1155/2014/283603. Epub 2014 Sep 3. J Ophthalmol. 2014. PMID: 25276414 Free PMC article.

6

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Kubota D, Gocho K, Akeo K, Kikuchi S, Sugahara M, Matsumoto CS, Shinoda K, Mizota A, Yamaki K, Takahashi H, Kameya S. Kubota D, et al. Among authors: kameya s. Doc Ophthalmol. 2016 Jun;132(3):233-43. doi: 10.1007/s10633-016-9540-3. Epub 2016 Apr 12. Doc Ophthalmol. 2016. PMID: 27071392 Free PMC article.

7

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Fujinami K, Kameya S, Kikuchi S, Ueno S, Kondo M, Hayashi T, Shinoda K, Machida S, Kuniyoshi K, Kawamura Y, Akahori M, Yoshitake K, Katagiri S, Nakanishi A, Sakuramoto H, Ozawa Y, Tsubota K, Yamaki K, Mizota A, Terasaki H, Miyake Y, Iwata T, Tsunoda K. Fujinami K, et al. Among authors: kameya s. Invest Ophthalmol Vis Sci. 2016 Sep 1;57(11):4837-46. doi: 10.1167/iovs.16-19670. Invest Ophthalmol Vis Sci. 2016. PMID: 27623337

8

Closure of a full-thickness macular hole without vitrectomy in choroideraemia.

Ishikawa K, Gekka T, Hayashi T, Kikuchi S, Kameya S, Tsuneoka H. Ishikawa K, et al. Among authors: kameya s. Clin Exp Optom. 2017 May;100(3):294-295. doi: 10.1111/cxo.12467. Epub 2016 Sep 14. Clin Exp Optom. 2017. PMID: 27628750 Free article. No abstract available.

9

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H. Hayashi T, et al. Among authors: kameya s. Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1. Jpn J Ophthalmol. 2017. PMID: 28668999

10

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.

Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K, Tsunoda K, Hayashi T, Kikuchi S, Kameya S, Iwata T, Terasaki H. Kominami A, et al. Among authors: kameya s. Ophthalmic Genet. 2018 Apr;39(2):255-262. doi: 10.1080/13816810.2017.1408846. Epub 2017 Dec 8. Ophthalmic Genet. 2018. PMID: 29220607

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