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Oguchi disease masked by retinitis pigmentosa.
Sonoyama H, Shinoda K, Ishigami C, Tada Y, Ideta H, Ideta R, Takahashi M, Miyake Y. Sonoyama H, et al. Among authors: ishigami c. Doc Ophthalmol. 2011 Oct;123(2):127-33. doi: 10.1007/s10633-011-9286-x. Epub 2011 Sep 16. Doc Ophthalmol. 2011. PMID: 21922265
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: ishigami c. PLoS One. 2012;7(2):e31036. doi: 10.1371/journal.pone.0031036. Epub 2012 Feb 17. PLoS One. 2012. PMID: 22363543 Free PMC article.
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y. Zhao Y, et al. Among authors: ishigami c. J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31. J Hum Genet. 2014. PMID: 25078356
A point mutation in Semaphorin 4A associates with defective endosomal sorting and causes retinal degeneration.
Nojima S, Toyofuku T, Kamao H, Ishigami C, Kaneko J, Okuno T, Takamatsu H, Ito D, Kang S, Kimura T, Yoshida Y, Morimoto K, Maeda Y, Ogata A, Ikawa M, Morii E, Aozasa K, Takagi J, Takahashi M, Kumanogoh A. Nojima S, et al. Among authors: ishigami c. Nat Commun. 2013;4:1406. doi: 10.1038/ncomms2420. Nat Commun. 2013. PMID: 23360997 Free PMC article.
13 results