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Page 1
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: kamping e. Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. Leukemia. 2010. PMID: 19946261 No abstract available.
Germline epigenetic silencing of the tumor suppressor gene PTPRJ in early-onset familial colorectal cancer.
Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, Schackert HK, Görgens H, Hahn MM, Kamping EJ, Vreede L, Hoenselaar E, van der Looij E, Goossens M, Churchman M, Carvajal-Carmona L, Tomlinson IP, de Bruijn DR, Van Kessel AG, Kuiper RP. Venkatachalam R, et al. Among authors: kamping ej. Gastroenterology. 2010 Dec;139(6):2221-4. doi: 10.1053/j.gastro.2010.08.063. Epub 2010 Oct 29. Gastroenterology. 2010. PMID: 21036128 No abstract available.
A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.
Zhang J, Wang X, de Voer RM, Hehir-Kwa JY, Kamping EJ, Weren RDA, Nelen M, Hoischen A, Ligtenberg MJL, Hoogerbrugge N, Yang X, Yang Z, Fan X, Wang L, Liu H, Wang J, Kuiper RP, van Kessel AG. Zhang J, et al. Oncotarget. 2017 Apr 11;8(15):24533-24547. doi: 10.18632/oncotarget.15593. Oncotarget. 2017. PMID: 28445943 Free PMC article.
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.
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: kamping e. Cancer Genet Cytogenet. 2009 Dec;195(2):105-11. doi: 10.1016/j.cancergencyto.2009.07.001. Cancer Genet Cytogenet. 2009. PMID: 19963109
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer.
Diets IJ, Waanders E, Ligtenberg MJ, van Bladel DAG, Kamping EJ, Hoogerbrugge PM, Hopman S, Olderode-Berends MJ, Gerkes EH, Koolen DA, Marcelis C, Santen GW, van Belzen MJ, Mordaunt D, McGregor L, Thompson E, Kattamis A, Pastorczak A, Mlynarski W, Ilencikova D, van Silfhout AV, Gardeitchik T, de Bont ES, Loeffen J, Wagner A, Mensenkamp AR, Kuiper RP, Hoogerbrugge N, Jongmans MC. Diets IJ, et al. Among authors: kamping ej. Clin Cancer Res. 2018 Apr 1;24(7):1594-1603. doi: 10.1158/1078-0432.CCR-17-1725. Epub 2018 Jan 19. Clin Cancer Res. 2018. PMID: 29351919
Acquired mutations in TET2 are common in myelodysplastic syndromes.
Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH. Langemeijer SM, et al. Among authors: kamping ej. Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31. Nat Genet. 2009. PMID: 19483684
32 results