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Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.
Coêlho KE, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N. Coêlho KE, et al. Among authors: fujimoto m. Am J Med Genet. 1996 Jun 14;63(3):468-71. doi: 10.1002/(SICI)1096-8628(19960614)63:3<468::AID-AJMG10>3.0.CO;2-K. Am J Med Genet. 1996. PMID: 8737654
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995
Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus.
Harada N, Abe K, Nishimura T, Sasaki K, Ishikawa M, Fujimoto M, Matsumoto T, Niikawa N. Harada N, et al. Among authors: fujimoto m. Am J Med Genet. 1998 Feb 3;75(4):432-7. doi: 10.1002/(sici)1096-8628(19980203)75:4<432::aid-ajmg17>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9482654
2,252 results