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Page 1
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: kurosawa k. 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.
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y. Niihori T, et al. Among authors: kurosawa k. J Hum Genet. 2005;50(4):192-202. doi: 10.1007/s10038-005-0239-7. Epub 2005 Apr 15. J Hum Genet. 2005. PMID: 15834506
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: kurosawa k. 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
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: kurosawa k. 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.
669 results