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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG. Vissers LE, et al. Among authors: schoenmakers ef. Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8. Nat Genet. 2004. PMID: 15300250
Chromosome 3 translocations and familial renal cell cancer.
Bonné AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG. Bonné AC, et al. Among authors: schoenmakers ef. Curr Mol Med. 2004 Dec;4(8):849-54. doi: 10.2174/1566524043359593. Curr Mol Med. 2004. PMID: 15579032 Review.
Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25).
Veltman IM, Vreede LA, Cheng J, Looijenga LH, Janssen B, Schoenmakers EF, Yeh ET, van Kessel AG. Veltman IM, et al. Among authors: schoenmakers ef. Hum Mol Genet. 2005 Jul 15;14(14):1955-63. doi: 10.1093/hmg/ddi200. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917269
96 results