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Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Okamoto N, Toribe Y, Shimojima K, Yamamoto T. Okamoto N, et al. Am J Med Genet A. 2016 May;170A(5):1339-42. doi: 10.1002/ajmg.a.37588. Epub 2016 Feb 11. Am J Med Genet A. 2016. PMID: 26866722
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.
Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y. Kurosawa K, et al. Among authors: okamoto n. Brain Dev. 2005 Aug;27(5):378-82. doi: 10.1016/j.braindev.2005.02.004. Epub 2005 Apr 13. Brain Dev. 2005. PMID: 16023556
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: okamoto n. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101
Congenital arhinia: molecular-genetic analysis of five patients.
Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Sato D, et al. Among authors: okamoto n. Am J Med Genet A. 2007 Mar 15;143A(6):546-52. doi: 10.1002/ajmg.a.31613. Am J Med Genet A. 2007. PMID: 17304554
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: okamoto n. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohashi Y, Kako Y, Nagai T, Ohashi H. Sakazume S, et al. Among authors: okamoto n. Am J Med Genet A. 2007 Aug 1;143A(15):1703-7. doi: 10.1002/ajmg.a.31822. Am J Med Genet A. 2007. PMID: 17603795
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: okamoto n. 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.
1,879 results