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[文献書誌] Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y: "Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression"J Hum Genet. 47. 511-516 (2002)
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[文献書誌] Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima T, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H: "Three novel DNMT3B mutations in Japanese patients with ICF syndrome"Am J Med Genet. 112. 31-37 (2002)
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[文献書誌] Muroya K, Yamamoto K, Fukushima Y, Ogata T: "Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother : Implication for ring chromosome formation"Am J Med Genet. 110. 332-337 (2002)
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[文献書誌] Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondo T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, kishino T, Fukushima Y, Niikawa N, Matsumoto N: "Haploinsufficiency of NSD1 causes Sotos syndrome"Nature Genet. 30. 365-366 (2002)
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[文献書誌] Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K: "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with miror-image polydactyly of hands and feet"J Hum Genet. 47. 136-139 (2002)
