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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: matsushita i. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Foveal Hypoplasia in Patients with Stickler Syndrome.
Matsushita I, Nagata T, Hayashi T, Kimoto K, Kubota T, Ohji M, Kusaka S, Kondo H. Matsushita I, et al. Ophthalmology. 2017 Jun;124(6):896-902. doi: 10.1016/j.ophtha.2017.01.046. Epub 2017 Mar 7. Ophthalmology. 2017. PMID: 28283280
Electroretinograms of eyes with Stickler syndrome.
Kondo H, Fujimoto K, Imagawa M, Oku K, Matsushita I, Hayashi T, Nagata T. Kondo H, et al. Among authors: matsushita i. Doc Ophthalmol. 2020 Jun;140(3):233-243. doi: 10.1007/s10633-019-09739-x. Epub 2019 Nov 28. Doc Ophthalmol. 2020. PMID: 31781920
170 results