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HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: yamamoto t. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Among authors: yamamoto t. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T. Eto K, et al. Among authors: yamamoto t. Am J Med Genet A. 2013 Dec;161A(12):3049-56. doi: 10.1002/ajmg.a.36156. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24039031
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T. Shimada S, et al. Among authors: yamamoto t. Brain Dev. 2015 May;37(5):515-26. doi: 10.1016/j.braindev.2014.08.002. Epub 2014 Aug 27. Brain Dev. 2015. PMID: 25172301
17,035 results
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