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107 results

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Page 1
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. Genes Chromosomes Cancer. 2010 Jul;49(7):635-41. doi: 10.1002/gcc.20773. Genes Chromosomes Cancer. 2010. PMID: 20461756
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, Kuiper RP, Ligtenberg MJ, van Kessel AG, van Krieken JH, Kiemeney LA, Hoogerbrugge N. Jongmans MC, et al. Eur J Hum Genet. 2011 Aug;19(8):870-4. doi: 10.1038/ejhg.2011.37. Epub 2011 Mar 16. Eur J Hum Genet. 2011. PMID: 21407260 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.
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N. Weren RD, et al. Nat Genet. 2015 Jun;47(6):668-71. doi: 10.1038/ng.3287. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938944
[Constitutional mismatch repair deficiency syndrome].
Jongmans MC, Gidding CE, Loeffen J, Wesseling P, Mensenkamp A, Hoogerbrugge N. Jongmans MC, et al. Ned Tijdschr Geneeskd. 2015;159:A8602. Ned Tijdschr Geneeskd. 2015. PMID: 26200421 Dutch.
Analyzing structure-function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells.
Rank L, Veith S, Gwosch EC, Demgenski J, Ganz M, Jongmans MC, Vogel C, Fischbach A, Buerger S, Fischer JM, Zubel T, Stier A, Renner C, Schmalz M, Beneke S, Groettrup M, Kuiper RP, Bürkle A, Ferrando-May E, Mangerich A. Rank L, et al. Nucleic Acids Res. 2016 Dec 1;44(21):10386-10405. doi: 10.1093/nar/gkw859. Epub 2016 Sep 29. Nucleic Acids Res. 2016. PMID: 27694308 Free PMC article.
Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences.
Waanders E, Scheijen B, Jongmans MC, Venselaar H, van Reijmersdal SV, van Dijk AH, Pastorczak A, Weren RD, van der Schoot CE, van de Vorst M, Sonneveld E, Hoogerbrugge N, van der Velden VH, Gruhn B, Hoogerbrugge PM, van Dongen JJ, Geurts van Kessel A, van Leeuwen FN, Kuiper RP. Waanders E, et al. Leukemia. 2017 Apr;31(4):821-828. doi: 10.1038/leu.2016.277. Epub 2016 Oct 13. Leukemia. 2017. PMID: 27733777
107 results