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Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
Wielders EA, Hettinger J, Dekker R, Kets CM, Ligtenberg MJ, Mensenkamp AR, van den Ouweland AM, Prins J, Wagner A, Dinjens WN, Dubbink HJ, van Hest LP, Menko F, Hogervorst F, Verhoef S, te Riele H. Wielders EA, et al. Among authors: van den ouweland am, van hest lp. J Med Genet. 2014 Apr;51(4):245-53. doi: 10.1136/jmedgenet-2013-101987. Epub 2014 Feb 5. J Med Genet. 2014. PMID: 24501230
Cost-effectiveness of routine screening for Lynch syndrome in colorectal cancer patients up to 70 years of age.
Leenen CH, Goverde A, de Bekker-Grob EW, Wagner A, van Lier MG, Spaander MC, Bruno MJ, Tops CM, van den Ouweland AM, Dubbink HJ, Kuipers EJ, Dinjens WN, van Leerdam ME, Steyerberg EW. Leenen CH, et al. Among authors: van den ouweland am, van leerdam me, van lier mg. Genet Med. 2016 Oct;18(10):966-73. doi: 10.1038/gim.2015.206. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938782 Free article.
Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.
Leenen CH, van Lier MG, van Doorn HC, van Leerdam ME, Kooi SG, de Waard J, Hoedemaeker RF, van den Ouweland AM, Hulspas SM, Dubbink HJ, Kuipers EJ, Wagner A, Dinjens WN, Steyerberg EW. Leenen CH, et al. Among authors: van leerdam me, van den ouweland am, van doorn hc, van lier mg. Gynecol Oncol. 2012 May;125(2):414-20. doi: 10.1016/j.ygyno.2012.01.049. Epub 2012 Feb 1. Gynecol Oncol. 2012. PMID: 22306203 Clinical Trial.
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.
Geurts-Giele WR, Leenen CH, Dubbink HJ, Meijssen IC, Post E, Sleddens HF, Kuipers EJ, Goverde A, van den Ouweland AM, van Lier MG, Steyerberg EW, van Leerdam ME, Wagner A, Dinjens WN. Geurts-Giele WR, et al. Among authors: van den ouweland am, van leerdam me, van lier mg. J Pathol. 2014 Dec;234(4):548-59. doi: 10.1002/path.4419. Epub 2014 Sep 30. J Pathol. 2014. PMID: 25111426
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators; Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE… See abstract for full author list ➔ Lakeman IMM, et al. Genet Med. 2021 Sep;23(9):1726-1737. doi: 10.1038/s41436-021-01198-7. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113011 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
Leenen CH, Geurts-Giele WR, Dubbink HJ, Reddingius R, van den Ouweland AM, Tops CM, van de Klift HM, Kuipers EJ, van Leerdam ME, Dinjens WN, Wagner A. Leenen CH, et al. Among authors: van de klift hm, van den ouweland am, van leerdam me. Clin Genet. 2011 Dec;80(6):558-65. doi: 10.1111/j.1399-0004.2010.01608.x. Epub 2011 Jan 13. Clin Genet. 2011. PMID: 21204794
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, Hogervorst FB, van den Ouweland AM, Gille JJ, Schmidt MK, van der Vaart AW, Meijers-Heijboer H, Waisfisz Q. Adank MA, et al. Among authors: van mil se, van den ouweland am, van der vaart aw. J Med Genet. 2011 Dec;48(12):860-3. doi: 10.1136/jmedgenet-2011-100380. Epub 2011 Nov 5. J Med Genet. 2011. PMID: 22058428
278 results