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Page 1
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: kuiper rp. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene.
Bonne A, Vreede L, Kuiper RP, Bodmer D, Jansen C, Eleveld M, van Erp F, Arkesteijn G, Hoogerbrugge N, van Ravenswaaij C, Schoenmakers EF, Geurts van Kessel A. Bonne A, et al. Among authors: kuiper rp. Cancer Genet Cytogenet. 2007 Nov;179(1):11-8. doi: 10.1016/j.cancergencyto.2007.07.005. Cancer Genet Cytogenet. 2007. PMID: 17981209
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Ligtenberg MJ, et al. Among authors: kuiper rp. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. Nat Genet. 2009. PMID: 19098912
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. Cancer Genet Cytogenet. 2009 Dec;195(2):105-11. doi: 10.1016/j.cancergencyto.2009.07.001. Cancer Genet Cytogenet. 2009. PMID: 19963109
Germline copy number variation and cancer risk.
Kuiper RP, Ligtenberg MJ, Hoogerbrugge N, Geurts van Kessel A. Kuiper RP, et al. Curr Opin Genet Dev. 2010 Jun;20(3):282-9. doi: 10.1016/j.gde.2010.03.005. Epub 2010 Apr 8. Curr Opin Genet Dev. 2010. PMID: 20381334 Review.
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
Jongmans MC, Hoogerbrugge PM, Hilkens L, Flucke U, van der Burgt I, Noordam K, Ruiterkamp-Versteeg M, Yntema HG, Nillesen WM, Ligtenberg MJ, van Kessel AG, Kuiper RP, Hoogerbrugge N. Jongmans MC, et al. Among authors: kuiper rp. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773. Genes Chromosomes Cancer. 2010. PMID: 20461756
The epigenetics of (hereditary) colorectal cancer.
Venkatachalam R, Ligtenberg MJ, Hoogerbrugge N, de Bruijn DR, Kuiper RP, Geurts van Kessel A. Venkatachalam R, et al. Among authors: kuiper rp. Cancer Genet Cytogenet. 2010 Nov;203(1):1-6. doi: 10.1016/j.cancergencyto.2010.08.013. Cancer Genet Cytogenet. 2010. PMID: 20951312 Review.
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: kuiper rp. 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.
131 results