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Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium. Fiorentino A, et al. Among authors: hayashi t. Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17. Hum Mutat. 2018. PMID: 28967191
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: hayashi t. PLoS One. 2014 Sep 30;9(9):e108721. doi: 10.1371/journal.pone.0108721. eCollection 2014. PLoS One. 2014. PMID: 25268133 Free PMC article.
RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: hayashi t. Ophthalmic Genet. 2016 Jun;37(2):161-9. doi: 10.3109/13816810.2014.991931. Epub 2014 Dec 12. Ophthalmic Genet. 2016. PMID: 25495949
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
Nakanishi A, Ueno S, Hayashi T, Katagiri S, Kominami T, Ito Y, Gekka T, Masuda Y, Tsuneoka H, Shinoda K, Hirakata A, Inoue M, Fujinami K, Tsunoda K, Iwata T, Terasaki H. Nakanishi A, et al. Among authors: hayashi t. Am J Ophthalmol. 2016 Aug;168:86-94. doi: 10.1016/j.ajo.2016.04.023. Epub 2016 May 7. Am J Ophthalmol. 2016. PMID: 27163236
9,758 results