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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K. Narumi-Kishimoto Y, et al. Among authors: kaname t. Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. Eur J Med Genet. 2019. PMID: 30267900 Free article. No abstract available.
Progressive hip joint subluxation in Saul-Wilson syndrome.
Chinen Y, Kaneshi T, Kamiya T, Hata K, Nishimura G, Kaname T. Chinen Y, et al. Among authors: kaname t. Am J Med Genet A. 2015 Nov;167A(11):2834-8. doi: 10.1002/ajmg.a.37278. Epub 2015 Aug 4. Am J Med Genet A. 2015. PMID: 26239279
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: kaname t. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
Genitopatellar syndrome: the first reported case in Japan.
Okano S, Miyamoto A, Fukuda I, Tanaka H, Hata K, Kaname T, Matsubara Y, Makita Y. Okano S, et al. Among authors: kaname t. Hum Genome Var. 2018 May 28;5:8. doi: 10.1038/s41439-018-0010-1. eCollection 2018. Hum Genome Var. 2018. PMID: 29899993 Free PMC article.
169 results