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Cone dystrophy in patient with homozygous RP1L1 mutation.
Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H. Kikuchi S, et al. Among authors: takahashi h. Biomed Res Int. 2015;2015:545243. doi: 10.1155/2015/545243. Epub 2015 Jan 29. Biomed Res Int. 2015. PMID: 25692141 Free PMC article. Clinical Trial.
Multimodal imaging of a case of peripheral cone dystrophy.
Ito N, Kameya S, Gocho K, Hayashi T, Kikuchi S, Katagiri S, Gekka T, Yamaki K, Takahashi H, Tsuneoka H. Ito N, et al. Among authors: takahashi h. Doc Ophthalmol. 2015 Jun;130(3):241-51. doi: 10.1007/s10633-015-9490-1. Epub 2015 Feb 24. Doc Ophthalmol. 2015. PMID: 25708979 Free PMC article.
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, Takahashi H, Ishida N, Iwata T, Mizota A, Kameya S. Kubota D, et al. Among authors: takahashi h. Ophthalmic Genet. 2019 Oct;40(5):480-487. doi: 10.1080/13816810.2019.1686159. Epub 2019 Nov 7. Ophthalmic Genet. 2019. PMID: 31696758 Free article.
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