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Page 1
DNA deletion and its parental origin in Angelman syndrome patients.
Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Izumikawa Y, Niikawa N. Hamabe J, et al. Among authors: niikawa n. Am J Med Genet. 1991 Oct 1;41(1):64-8. doi: 10.1002/ajmg.1320410117. Am J Med Genet. 1991. PMID: 1683160
Cytogenetic and molecular study of Angelman syndrome.
Imaizumi K, Takada F, Kuroki Y, Naritomi K, Hamabe J, Niikawa N. Imaizumi K, et al. Among authors: niikawa n. Am J Med Genet. 1990 Mar;35(3):314-8. doi: 10.1002/ajmg.1320350305. Am J Med Genet. 1990. PMID: 2309778
Japanese kindred with FG syndrome.
Kato R, Niikawa N, Nagai T, Fukushima Y. Kato R, et al. Among authors: niikawa n. Am J Med Genet. 1994 Aug 15;52(2):242-3. doi: 10.1002/ajmg.1320520226. Am J Med Genet. 1994. PMID: 7802020 No abstract available.
Standard growth curves for Japanese patients with Prader-Willi syndrome.
Nagai T, Matsuo N, Kayanuma Y, Tonoki H, Fukushima Y, Ohashi H, Murai T, Hasegawa T, Kuroki Y, Niikawa N. Nagai T, et al. Among authors: niikawa n. Am J Med Genet. 2000 Nov 13;95(2):130-4. doi: 10.1002/1096-8628(20001113)95:2<130::aid-ajmg7>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11078562
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: niikawa 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.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N. Kosho T, et al. Among authors: niikawa n. Am J Med Genet A. 2013 Jun;161A(6):1221-37. doi: 10.1002/ajmg.a.35933. Epub 2013 May 1. Am J Med Genet A. 2013. PMID: 23637025 Review.
425 results