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Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM. Goto K, et al. Among authors: hotta y. J Med Genet. 2024 Jun 20;61(7):613-620. doi: 10.1136/jmg-2023-109750. J Med Genet. 2024. PMID: 38499336
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: hotta y. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Genetic and Clinical Features of ABCA4-Associated Retinopathy in a Japanese Nationwide Cohort.
Mizobuchi K, Hayashi T, Tanaka K, Kuniyoshi K, Murakami Y, Nakamura N, Torii K, Mizota A, Sakai D, Maeda A, Kominami T, Ueno S, Kusaka S, Nishiguchi KM, Ikeda Y, Kondo M, Tsunoda K, Hotta Y, Nakano T. Mizobuchi K, et al. Among authors: hotta y. Am J Ophthalmol. 2024 Aug;264:36-43. doi: 10.1016/j.ajo.2024.03.007. Epub 2024 Mar 16. Am J Ophthalmol. 2024. PMID: 38499139 Free article.
A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.
Watanabe K, Bunai T, Sakamoto M, Ishigaki S, Iwakura T, Ohashi N, Wakatsuki R, Takenouchi A, Iwaizumi M, Hotta Y, Saida K, Koshimizu E, Miyatake S, Saitsu H, Matsumoto N, Nakamura T. Watanabe K, et al. Among authors: hotta y. J Neurol. 2024 Sep;271(9):6227-6237. doi: 10.1007/s00415-024-12593-w. Epub 2024 Jul 30. J Neurol. 2024. PMID: 39078482
Mucosal cytokine expression associated with deep endoscopic mucosal healing in ulcerative colitis.
Uchiyama K, Takagi T, Mizushima K, Hirai Y, Murakami E, Asaeda K, Kajiwara-Kubota M, Kashiwagi S, Minagawa Y, Hotta Y, Tanaka M, Inoue K, Katada K, Kamada K, Ishikawa T, Konishi H, Kishimoto M, Naito Y, Itoh Y. Uchiyama K, et al. Among authors: hotta y. J Crohns Colitis. 2024 Oct 16:jjae158. doi: 10.1093/ecco-jcc/jjae158. Online ahead of print. J Crohns Colitis. 2024. PMID: 39412247
715 results