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Page 1
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: fujimaki t. Hum Mutat. 2022 Dec;43(12):2251-2264. doi: 10.1002/humu.24492. Epub 2022 Nov 7. Hum Mutat. 2022. PMID: 36284460
Central retinal vein occlusion caused by human herpesvirus 6.
Takizawa Y, Hayashi S, Fujimaki T, Mizota A, Yokoyama T, Tanaka M, Murakami A. Takizawa Y, et al. Among authors: fujimaki t. J Pediatr Ophthalmol Strabismus. 2006 May-Jun;43(3):176-8. doi: 10.3928/01913913-20060301-08. J Pediatr Ophthalmol Strabismus. 2006. PMID: 16761641
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Coppieters F, et al. Among authors: fujimaki t. Hum Mutat. 2015 Dec;36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015 Oct 1. Hum Mutat. 2015. PMID: 26316326 Free PMC article.
Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
Fujiki K, Hotta Y, Hayakawa M, Fujimaki T, Takeda M, Isashiki Y, Ohba N, Kanai A. Fujiki K, et al. Among authors: fujimaki t. Jpn J Ophthalmol. 1998 May-Jun;42(3):186-92. doi: 10.1016/s0021-5155(97)00133-0. Jpn J Ophthalmol. 1998. PMID: 9690896
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
Funayama T, Ishikawa K, Ohtake Y, Tanino T, Kurosaka D, Kimura I, Suzuki K, Ideta H, Nakamoto K, Yasuda N, Fujimaki T, Murakami A, Asaoka R, Hotta Y, Tanihara H, Kanamoto T, Mishima H, Fukuchi T, Abe H, Iwata T, Shimada N, Kudoh J, Shimizu N, Mashima Y. Funayama T, et al. Among authors: fujimaki t. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4359-67. doi: 10.1167/iovs.03-1403. Invest Ophthalmol Vis Sci. 2004. PMID: 15557444
308 results