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Page 1
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
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
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Niikawa N, et al. Am J Med Genet. 1988 Nov;31(3):565-89. doi: 10.1002/ajmg.1320310312. Am J Med Genet. 1988. PMID: 3067577 Review.
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: niikawa n. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: niikawa n. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044
StyI polymorphism at the D15S11 locus.
Hamabe J, Niikawa N. Hamabe J, et al. Among authors: niikawa n. Nucleic Acids Res. 1990 Sep 25;18(18):5579. doi: 10.1093/nar/18.18.5579. Nucleic Acids Res. 1990. PMID: 1977123 Free PMC article.
425 results