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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: ueno s. J Med Genet. 2024 Mar 18:jmg-2023-109750. doi: 10.1136/jmg-2023-109750. Online ahead of print. J Med Genet. 2024. PMID: 38499336
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y. Hosono K, et al. Among authors: ueno s. PLoS One. 2012;7(2):e31036. doi: 10.1371/journal.pone.0031036. Epub 2012 Feb 17. PLoS One. 2012. PMID: 22363543 Free PMC article.
Focal cone ERGs of rhodopsin Pro347Leu transgenic rabbits.
Ueno S, Koyasu T, Kominami T, Sakai T, Kondo M, Yasuda S, Terasaki H. Ueno S, et al. Vision Res. 2013 Oct 18;91:118-23. doi: 10.1016/j.visres.2013.08.006. Epub 2013 Aug 21. Vision Res. 2013. PMID: 23973440 Free article.
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: ueno s. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
Changes in vitreous temperature during intravitreal surgery.
Iguchi Y, Asami T, Ueno S, Ushida H, Maruko R, Oiwa K, Terasaki H. Iguchi Y, et al. Among authors: ueno s. Invest Ophthalmol Vis Sci. 2014 Apr 11;55(4):2344-9. doi: 10.1167/iovs.13-13065. Invest Ophthalmol Vis Sci. 2014. PMID: 24508794
2,186 results