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Page 1
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Among authors: hotta y. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
A case of sectorial benign flecked retina.
Tsuchiya T, Kato M, Tomita N, Koide K, Hata N, Sato M, Hotta Y, Ueno M, Nakamura M, Miyake Y. Tsuchiya T, et al. Among authors: hotta y. Jpn J Ophthalmol. 2004 Jan-Feb;48(1):72-4. doi: 10.1007/s10384-003-0002-6. Jpn J Ophthalmol. 2004. PMID: 14767656
Three novel mutations of the PAX6 gene in Japanese aniridia patients.
Kawano T, Wang C, Hotta Y, Sato M, Iwata-Amano E, Hikoya A, Fujita N, Koyama N, Shirai S, Azuma N, Ohtsubo M, Shimizu N, Minoshima S. Kawano T, et al. Among authors: hotta y. J Hum Genet. 2007;52(7):571-574. doi: 10.1007/s10038-007-0153-2. Epub 2007 Jun 14. J Hum Genet. 2007. PMID: 17568989
A case of aniridia with unilateral Peters anomaly.
Sawada M, Sato M, Hikoya A, Wang C, Minoshima S, Azuma N, Hotta Y. Sawada M, et al. Among authors: hotta y. J AAPOS. 2011 Feb;15(1):104-6. doi: 10.1016/j.jaapos.2010.11.006. J AAPOS. 2011. PMID: 21397818
Clinical features of a Japanese case with Bothnia dystrophy.
Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M, Kondo M, Minoshima S, Hotta Y. Nojima K, et al. Among authors: hotta y. Ophthalmic Genet. 2012 Jun;33(2):83-8. doi: 10.3109/13816810.2011.634877. Epub 2011 Dec 15. Ophthalmic Genet. 2012. PMID: 22171637
715 results