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SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: niikawa n. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: niikawa n. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
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.
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.
Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura KI, Sosonkina N, Harada N, Shimokawa O, Nakayama D, Yoshimura S, Matsumoto N, Niikawa N, Ishimaru T. Miura S, et al. Among authors: niikawa n. J Hum Genet. 2006;51(5):412-417. doi: 10.1007/s10038-006-0376-7. Epub 2006 Apr 19. J Hum Genet. 2006. PMID: 16622586
Angelman syndrome caused by an identical familial 1,487-kb deletion.
Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: niikawa n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.
425 results