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Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.
Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: orii t. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
Tomatsu S, Orii KO, Vogler C, Grubb JH, Snella EM, Gutierrez MA, Dieter T, Sukegawa K, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: orii ko, orii t. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14982-7. doi: 10.1073/pnas.232570999. Epub 2002 Oct 28. Proc Natl Acad Sci U S A. 2002. PMID: 12403825 Free PMC article.
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: orii ko, orii t. Hum Mol Genet. 2003 Dec 15;12(24):3349-58. doi: 10.1093/hmg/ddg366. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583446
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A. Tomatsu S, et al. Among authors: orii ko, orii t. Pediatr Res. 2004 Apr;55(4):592-7. doi: 10.1203/01.PDR.0000113767.60140.E9. Epub 2004 Jan 7. Pediatr Res. 2004. PMID: 14711889
546 results