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Page 1
Duplication of 8p23.2: a benign cytogenetic variant?
Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Harada N, et al. Among authors: ohta t. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: ohta t. Hum Mutat. 2003 Nov;22(5):378-87. doi: 10.1002/humu.10270. Hum Mutat. 2003. PMID: 14517949
Molecular characterization of inv dup del(8p): analysis of five cases.
Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Shimokawa O, et al. Among authors: ohta t. Am J Med Genet A. 2004 Jul 15;128A(2):133-7. doi: 10.1002/ajmg.a.30063. Am J Med Genet A. 2004. PMID: 15214003
Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: ohta t. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Kayashima T, et al. Among authors: ohta t. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731
Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.
Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: ohta t. Am J Hum Genet. 2003 May;72(5):1331-7. doi: 10.1086/375166. Epub 2003 Apr 9. Am J Hum Genet. 2003. PMID: 12687502 Free PMC article.
3,616 results