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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J. Hayashi S, et al. Among authors: okamoto n. J Hum Genet. 2011 Feb;56(2):110-24. doi: 10.1038/jhg.2010.129. Epub 2010 Oct 28. J Hum Genet. 2011. PMID: 20981036
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J. Honda S, et al. Among authors: okamoto n. Am J Med Genet A. 2012 Jun;158A(6):1292-303. doi: 10.1002/ajmg.a.35321. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528406
Novel FIG4 mutations in Yunis-Varon syndrome.
Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N. Nakajima J, et al. Among authors: okamoto n. J Hum Genet. 2013 Dec;58(12):822-4. doi: 10.1038/jhg.2013.104. Epub 2013 Oct 3. J Hum Genet. 2013. PMID: 24088667
Early manifestations of BPAN in a pediatric patient.
Okamoto N, Ikeda T, Hasegawa T, Yamamoto Y, Kawato K, Komoto T, Imoto I. Okamoto N, et al. Am J Med Genet A. 2014 Dec;164A(12):3095-9. doi: 10.1002/ajmg.a.36779. Epub 2014 Sep 26. Am J Med Genet A. 2014. PMID: 25263061
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K. Kuroda Y, et al. Among authors: okamoto n. Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914220 No abstract available.
1,878 results