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Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.
Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N. Jongmans MC, et al. Among authors: schoenmakers ef. Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. Leukemia. 2010. PMID: 19946261 No abstract available.
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.
The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer.
Kuiper RP, Vreede L, Venkatachalam R, Ricketts C, Kamping E, Verwiel E, Govaerts L, Debiec-Rychter M, Lerut E, van Erp F, Hoogerbrugge N, van Kempen L, Schoenmakers EF, Bonne A, Maher ER, Geurts van Kessel A. Kuiper RP, et al. Among authors: schoenmakers ef. Cancer Genet Cytogenet. 2009 Dec;195(2):105-11. doi: 10.1016/j.cancergencyto.2009.07.001. Cancer Genet Cytogenet. 2009. PMID: 19963109
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
Characterization of a recurrent t(1;2)(p36;p24) in human uterine leiomyoma.
van Rijk A, Sweers M, Huys E, Kersten M, Merkx G, van Kessel AG, Debiec-Rychter M, Schoenmakers EF. van Rijk A, et al. Among authors: schoenmakers ef. Cancer Genet Cytogenet. 2009 Aug;193(1):54-62. doi: 10.1016/j.cancergencyto.2009.03.011. Cancer Genet Cytogenet. 2009. PMID: 19602464
96 results