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Molecular and clinical study of 61 Angelman syndrome patients.
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J, et al. Saitoh S, et al. Among authors: sugimoto t. Am J Med Genet. 1994 Aug 15;52(2):158-63. doi: 10.1002/ajmg.1320520207. Am J Med Genet. 1994. PMID: 7802001 Review.
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: sugimoto t. Am J Med Genet. 1991 Oct 1;41(1):64-8. doi: 10.1002/ajmg.1320410117. Am J Med Genet. 1991. PMID: 1683160
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K. Nagai T, et al. Among authors: sugimoto t. J Med Genet. 2003 Apr;40(4):285-9. doi: 10.1136/jmg.40.4.285. J Med Genet. 2003. PMID: 12676901 Free PMC article. No abstract available.
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: sugimoto t. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241
3,554 results