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9,350 results

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Page 1
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. Miyake N, et al. Among authors: kato m. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913813
WDR45 mutations in three male patients with West syndrome.
Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: kato m. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. Hori I, et al. Among authors: kato m. Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13. Am J Med Genet A. 2016. PMID: 27075689
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S. Negishi Y, et al. Among authors: kato m. BMC Med Genet. 2017 Jan 13;18(1):4. doi: 10.1186/s12881-016-0363-6. BMC Med Genet. 2017. PMID: 28086757 Free PMC article.
Novel MCA/ID syndrome with ASH1L mutation.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Okamoto N, et al. Among authors: kato m. Am J Med Genet A. 2017 Jun;173(6):1644-1648. doi: 10.1002/ajmg.a.38193. Epub 2017 Apr 10. Am J Med Genet A. 2017. PMID: 28394464
Progressive subglottic stenosis in a child with Pallister-Killian syndrome.
Shiohama T, Fujii K, Shimizu K, Ohashi H, Takatani T, Okamoto N, Nishimura G, Kato M, Shimojo N. Shiohama T, et al. Among authors: kato m. Congenit Anom (Kyoto). 2018 May;58(3):102-104. doi: 10.1111/cga.12240. Epub 2017 Aug 29. Congenit Anom (Kyoto). 2018. PMID: 28745802
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
Okamoto N, Tsuchiya Y, Miya F, Tsunoda T, Yamashita K, Boroevich KA, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K, Kitagawa D. Okamoto N, et al. Among authors: kato m. Am J Med Genet A. 2017 Oct;173(10):2690-2696. doi: 10.1002/ajmg.a.38391. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777490
9,350 results