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DNA mismatch repair: from biophysics to bedside.
Lebbink JH, Drost M, de Wind N. Lebbink JH, et al. Among authors: de wind n. DNA Repair (Amst). 2016 Feb;38:1-2. doi: 10.1016/j.dnarep.2015.11.007. Epub 2015 Dec 8. DNA Repair (Amst). 2016. PMID: 26777339 No abstract available.
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.
Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry; Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB. Parsons MT, et al. Among authors: de wind n. Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2. Mol Carcinog. 2015. PMID: 24302565 Free PMC article.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Among authors: de wind n. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ. Andersen SD, et al. Among authors: de wind n. Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23. Hum Mutat. 2012. PMID: 22753075
126 results