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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
Overbeek KA, Rodríguez-Girondo MD, Wagner A, van der Stoep N, van den Akker PC, Oosterwijk JC, van Os TA, van der Kolk LE, Vasen HFA, Hes FJ, Cahen DL, Bruno MJ, Potjer TP. Overbeek KA, et al. Among authors: van den akker pc, van os ta, van der stoep n, van der kolk le. J Med Genet. 2021 Apr;58(4):264-269. doi: 10.1136/jmedgenet-2019-106562. Epub 2020 Jun 1. J Med Genet. 2021. PMID: 32482799 Free PMC article.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP, Bollen S, Grimbergen AJEM, van Doorn R, Gruis NA, van Asperen CJ, Hes FJ, van der Stoep N; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. Int J Cancer. 2019 May 15;144(10):2453-2464. doi: 10.1002/ijc.31984. Epub 2019 Jan 21. Int J Cancer. 2019. PMID: 30414346 Free PMC article.
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
Potjer TP, van der Grinten TWJ, Lakeman IMM, Bollen SH, Rodríguez-Girondo M, Iles MM, Barrett JH, Kiemeney LA, Gruis NA, van Asperen CJ, van der Stoep N. Potjer TP, et al. Among authors: van asperen cj, van der grinten twj, van der stoep n. J Med Genet. 2021 Nov;58(11):760-766. doi: 10.1136/jmedgenet-2020-107251. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994281 Free PMC article.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
Potjer TP, Helgadottir H, Leenheer M, van der Stoep N, Gruis NA, Höiom V, Olsson H, van Doorn R, Vasen HFA, van Asperen CJ, Dekkers OM, Hes FJ; Dutch Working Group for Clinical Oncogenetics. Potjer TP, et al. Among authors: van asperen cj, van doorn r, van der stoep n. J Med Genet. 2018 Oct;55(10):661-668. doi: 10.1136/jmedgenet-2017-105205. Epub 2018 Apr 16. J Med Genet. 2018. PMID: 29661971 Free article.
Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.
Potjer TP, van der Stoep N, Houwing-Duistermaat JJ, Konings IC, Aalfs CM, van den Akker PC, Ausems MG, Dommering CJ, van der Kolk LE, Maiburg MC, Spruijt L, Wagner A, Vasen HF, Hes FJ. Potjer TP, et al. Among authors: van den akker pc, van der stoep n, van der kolk le. BMC Res Notes. 2015 Jun 26;8:264. doi: 10.1186/s13104-015-1235-4. BMC Res Notes. 2015. PMID: 26111702 Free PMC article.
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Out AA, van Minderhout IJ, van der Stoep N, van Bommel LS, Kluijt I, Aalfs C, Voorendt M, Vossen RH, Nielsen M, Vasen HF, Morreau H, Devilee P, Tops CM, Hes FJ. Out AA, et al. Among authors: van bommel ls, van minderhout ij, van der stoep n. Fam Cancer. 2015 Jun;14(2):247-57. doi: 10.1007/s10689-015-9780-5. Fam Cancer. 2015. PMID: 25604157 Free PMC article.
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Chau C, van Doorn R, van Poppelen NM, van der Stoep N, Mensenkamp AR, Sijmons RH, van Paassen BW, van den Ouweland AMW, Naus NC, van der Hout AH, Potjer TP, Bleeker FE, Wevers MR, van Hest LP, Jongmans MCJ, Marinkovic M, Bleeker JC, Jager MJ, Luyten GPM, Nielsen M. Chau C, et al. Among authors: van paassen bw, van der hout ah, van doorn r, van den ouweland amw, van poppelen nm, van der stoep n, van hest lp. Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114. Cancers (Basel). 2019. PMID: 31382694 Free PMC article.
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Grazziotin TC, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard A, Puig S, van der Stoep N, Wadt KAW, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Study Group. Taylor NJ, et al. Among authors: van der stoep n. J Invest Dermatol. 2017 Dec;137(12):2606-2612. doi: 10.1016/j.jid.2017.07.829. Epub 2017 Aug 19. J Invest Dermatol. 2017. PMID: 28830827 Free PMC article.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Goossens R, van den Boogaard ML, Lemmers RJLF, Balog J, van der Vliet PJ, Willemsen IM, Schouten J, Maggio I, van der Stoep N, Hoeben RC, Tapscott SJ, Geijsen N, Gonçalves MAFV, Sacconi S, Tawil R, van der Maarel SM. Goossens R, et al. Among authors: van der maarel sm, van den boogaard ml, van der stoep n, van der vliet pj. J Med Genet. 2019 Dec;56(12):828-837. doi: 10.1136/jmedgenet-2019-106402. Epub 2019 Nov 1. J Med Genet. 2019. PMID: 31676591
99 results