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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, Bartz S, Peri B, Beunders G, Verbeek N, van Gassen K, Thiffault I, Cadieux-Dion M, Huerta-Saenz L, Wagner M, Konstantopoulou V, Vodopiutz J, Griese M, Boel A, Callewaert B, Brunner HG, Kleefstra T, Hoogerbrugge N, de Vries BBA, Hwa V, Dauber A, Hehir-Kwa JY, Kuiper RP, Jongmans MCJ. Diets IJ, et al. Among authors: kuiper rp. Am J Hum Genet. 2019 Apr 4;104(4):758-766. doi: 10.1016/j.ajhg.2019.02.023. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929739 Free PMC article.
No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.
Kiemeney LA, Kuiper RP, Pfundt R, van Reijmersdal S, Schoenberg MP, Aben KK, Niermeijer MF, Witjes JA, Schoenmakers EF. Kiemeney LA, et al. Among authors: kuiper rp. Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):180-3. doi: 10.1158/1055-9965.EPI-05-0714. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 16434610 Free article. No abstract available.
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
BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia.
van Galen JC, Kuiper RP, van Emst L, Levers M, Tijchon E, Scheijen B, Waanders E, van Reijmersdal SV, Gilissen C, van Kessel AG, Hoogerbrugge PM, van Leeuwen FN. van Galen JC, et al. Among authors: kuiper rp. Blood. 2010 Jun 10;115(23):4810-9. doi: 10.1182/blood-2009-05-223081. Epub 2010 Mar 30. Blood. 2010. PMID: 20354172 Free article.
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.
132 results