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Page 1
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: niikawa n. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
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
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: niikawa n. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731
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: niikawa n. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324
The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.
Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. Kayashima T, et al. Among authors: niikawa n. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318
Kabuki make-up syndrome: a review.
Matsumoto N, Niikawa N. Matsumoto N, et al. Among authors: niikawa n. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561059 Review.
425 results