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Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Sakai H, et al. Am J Med Genet A. 2006 Aug 15;140(16):1719-25. doi: 10.1002/ajmg.a.31353. Am J Med Genet A. 2006. PMID: 16835936
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. Nishimura A, et al. Among authors: sakai h. Am J Med Genet A. 2007 Apr 1;143A(7):694-8. doi: 10.1002/ajmg.a.31639. Am J Med Genet A. 2007. PMID: 17345643
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: sakai h. 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.
Craniosynostosis in a patient with a de novo 15q15-q22 deletion.
Hiraki Y, Moriuchi M, Okamoto N, Ishikawa N, Sugimoto Y, Eguchi K, Sakai H, Saitsu H, Mizuguchi T, Harada N, Matsumoto N. Hiraki Y, et al. Among authors: sakai h. Am J Med Genet A. 2008 Jun 1;146A(11):1462-5. doi: 10.1002/ajmg.a.32339. Am J Med Genet A. 2008. PMID: 18449934
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: sakai h. 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
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Among authors: sakai h. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.
Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N. Tadaki H, et al. Among authors: sakai h. Int J Immunogenet. 2011 Aug;38(4):287-93. doi: 10.1111/j.1744-313X.2011.01005.x. Epub 2011 Mar 7. Int J Immunogenet. 2011. PMID: 21382177
4,692 results