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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: nielsen m. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review.
Knopperts AP, Nielsen M, Niessen RC, Tops CM, Jorritsma B, Varkevisser J, Wijnen J, Siezen CL, Heine-Bröring RC, van Kranen HJ, Vos YJ, Westers H, Kampman E, Sijmons RH, Hes FJ. Knopperts AP, et al. Among authors: nielsen m. Fam Cancer. 2013 Mar;12(1):43-50. doi: 10.1007/s10689-012-9570-2. Fam Cancer. 2013. PMID: 23007840 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.
The genetic basis of uveal melanoma.
Nielsen M, Dogrusöz M, Bleeker JC, Kroes WG, van Asperen CA, Marinkovic M, Luyten GP, Jager MJ. Nielsen M, et al. J Fr Ophtalmol. 2015 Jun;38(6):516-21. doi: 10.1016/j.jfo.2015.04.003. Epub 2015 May 11. J Fr Ophtalmol. 2015. PMID: 25976137
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM. van der Klift HM, et al. Among authors: nielsen m. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Grolleman JE, et al. Among authors: nielsen m. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. Cancer Cell. 2019. PMID: 30753826 Free 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: nielsen m. Cancers (Basel). 2019 Aug 4;11(8):1114. doi: 10.3390/cancers11081114. Cancers (Basel). 2019. PMID: 31382694 Free PMC article.
Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Post CCB, Stelloo E, Smit VTHBM, Ruano D, Tops CM, Vermij L, Rutten TA, Jürgenliemk-Schulz IM, Lutgens LCHW, Jobsen JJ, Nout RA, Crosbie EJ, Powell ME, Mileshkin L, Leary A, Bessette P, Putter H, de Boer SM, Horeweg N, Nielsen M, Wezel TV, Bosse T, Creutzberg CL. Post CCB, et al. Among authors: nielsen m. J Natl Cancer Inst. 2021 Sep 4;113(9):1212-1220. doi: 10.1093/jnci/djab029. J Natl Cancer Inst. 2021. PMID: 33693762 Free PMC article.
4,513 results