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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T. Schubert SA, et al. Among authors: nielsen m. Br J Cancer. 2017 Sep 5;117(6):1215-1223. doi: 10.1038/bjc.2017.240. Epub 2017 Jul 25. Br J Cancer. 2017. PMID: 28742792 Free PMC article.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K. Suerink M, et al. Among authors: nielsen m. J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415209 Review.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M. Suerink M, et al. Among authors: nielsen m. Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17. Genet Med. 2019. PMID: 31204389 Free article.
Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome.
Golubicki M, Bonjoch L, Acuña-Ochoa JG, Díaz-Gay M, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Cisterna D, Schubert SA, Nielsen M, van Wezel T, Goldberg Y, Pikarsky E, Robbio J, Roca E, Castells A, Balaguer F, Antelo M, Castellví-Bel S. Golubicki M, et al. Among authors: nielsen m. JCI Insight. 2020 Sep 17;5(18):e140698. doi: 10.1172/jci.insight.140698. JCI Insight. 2020. PMID: 32841224 Free PMC article.
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.
Dominguez-Valentin M, Haupt S, Seppälä TT, Sampson JR, Sunde L, Bernstein I, Jenkins MA, Engel C, Aretz S, Nielsen M, Capella G, Balaguer F, Evans DG, Burn J, Holinski-Feder E, Bertario L, Bonanni B, Lindblom A, Levi Z, Macrae F, Winship I, Plazzer JP, Sijmons R, Laghi L, Della Valle A, Heinimann K, Dębniak T, Fruscio R, Lopez-Koestner F, Alvarez-Valenzuela K, Katz LH, Laish I, Vainer E, Vaccaro C, Carraro DM, Monahan K, Half E, Stakelum A, Winter D, Kennelly R, Gluck N, Sheth H, Abu-Freha N, Greenblatt M, Rossi BM, Bohorquez M, Cavestro GM, Lino-Silva LS, Horisberger K, Tibiletti MG, Nascimento ID, Thomas H, Rossi NT, Apolinário da Silva L, Zaránd A, Ruiz-Bañobre J, Heuveline V, Mecklin JP, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Peltomäki P, Therkildsen C, Madsen MG, Burgdorf SK, Hopper JL, Win AK, Haile RW, Lindor N, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo J, Buchanan DD, Thibodeau SN, von Knebel Doeberitz M, Loeffler M, Rahner N, Schröck E, Steinke-Lange V, Schmiegel W, Vangala D, Perne C, Hüneburg R, Redler S, Büttner R, Weitz J, Pineda M, Duenas N, Vidal JB, Moreira L, Sánchez A, Hovig E, Nakken S, Green K, Lalloo F, Hill J, Crosbie E, Mints M, Goldb… See abstract for full author list ➔ Dominguez-Valentin M, et al. Among authors: nielsen m. EClinicalMedicine. 2023 Mar 20;58:101909. doi: 10.1016/j.eclinm.2023.101909. eCollection 2023 Apr. EClinicalMedicine. 2023. PMID: 37181409 Free PMC article.
Molecular functions of MCM8 and MCM9 and their associated pathologies.
Helderman NC, Terlouw D, Bonjoch L, Golubicki M, Antelo M, Morreau H, van Wezel T, Castellví-Bel S, Goldberg Y, Nielsen M. Helderman NC, et al. Among authors: nielsen m. iScience. 2023 Apr 27;26(6):106737. doi: 10.1016/j.isci.2023.106737. eCollection 2023 Jun 16. iScience. 2023. PMID: 37378315 Free PMC article. Review.
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
Hes FJ, Ruano D, Nieuwenhuis M, Tops CM, Schrumpf M, Nielsen M, Huijts PE, Wijnen JT, Wagner A, Gómez García EB, Sijmons RH, Menko FH, Letteboer TG, Hoogerbrugge N, Harryvan J, Kampman E, Morreau H, Vasen HF, van Wezel T. Hes FJ, et al. Among authors: nielsen m. J Med Genet. 2014 Jan;51(1):55-60. doi: 10.1136/jmedgenet-2013-102000. Epub 2013 Nov 19. J Med Genet. 2014. PMID: 24253443 Free PMC article.
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Schubert SA, Ruano D, Elsayed FA, Boot A, Crobach S, Sarasqueta AF, Wolffenbuttel B, van der Klauw MM, Oosting J, Tops CM, van Eijk R, Vasen HF, Vossen RH, Nielsen M, Castellví-Bel S, Ruiz-Ponte C, Tomlinson I, Dunlop MG, Vodicka P, Wijnen JT, Hes FJ, Morreau H, de Miranda NF, Sijmons RH, van Wezel T. Schubert SA, et al. Among authors: nielsen m. Br J Cancer. 2018 Jan;118(2):e4. doi: 10.1038/bjc.2017.380. Epub 2017 Oct 12. Br J Cancer. 2018. PMID: 29361631 Free PMC article. No abstract available.
4,510 results