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Year Number of Results
1993 1
2007 1
2008 1
2009 4
2010 1
2011 2
2013 1
2015 4
2016 3
2017 4
2018 2
2019 5
2020 11
2021 11
2022 8
2023 5
2024 5

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60 results

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Page 1
Did you mean richard de boer[Author] (85 results)?
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles C, West HD, Chew E, Galavotti S, Flensburg C, Grolleman JE, Jansen EAM, Curley H, Chegwidden L, Arbe-Barnes EH, Lander N, Truscott R, Pagan J, Bajel A, Sherwood K, Martin L, Thomas H, Georgiou D, Fostira F, Goldberg Y, Adams DJ, van der Biezen SAM, Christie M, Clendenning M, Thomas LE, Deltas C, Dimovski AJ, Dymerska D, Lubinski J, Mahmood K, van der Post RS, Sanders M, Weitz J, Taylor JC, Turnbull C, Vreede L, van Wezel T, Whalley C, Arnedo-Pac C, Caravagna G, Cross W, Chubb D, Frangou A, Gruber AJ, Kinnersley B, Noyvert B, Church D, Graham T, Houlston R, Lopez-Bigas N, Sottoriva A, Wedge D; Genomics England Research Consortium; CORGI Consortium; WGS500 Consortium; Jenkins MA, Kuiper RP, Roberts AW, Cheadle JP, Ligtenberg MJL, Hoogerbrugge N, Koelzer VH, Rivas AD, Winship IM, Ponte CR, Buchanan DD, Power DG, Green A, Tomlinson IPM, Sampson JR, Majewski IJ, de Voer RM. Palles C, et al. Among authors: de voer rm. Am J Hum Genet. 2022 May 5;109(5):953-960. doi: 10.1016/j.ajhg.2022.03.018. Epub 2022 Apr 22. Am J Hum Genet. 2022. PMID: 35460607 Free PMC article.
Update on genetic predisposition to colorectal cancer and polyposis.
Valle L, de Voer RM, Goldberg Y, Sjursen W, Försti A, Ruiz-Ponte C, Caldés T, Garré P, Olsen MF, Nordling M, Castellvi-Bel S, Hemminki K. Valle L, et al. Among authors: de voer rm. Mol Aspects Med. 2019 Oct;69:10-26. doi: 10.1016/j.mam.2019.03.001. Epub 2019 Mar 18. Mol Aspects Med. 2019. PMID: 30862463 Free article. Review.
NTHL1 Tumor Syndrome.
Kuiper RP, Nielsen M, De Voer RM, Hoogerbrugge N. Kuiper RP, et al. Among authors: de voer rm. 2020 Apr 2. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Apr 2. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 32239880 Free Books & Documents. Review.
Somatic mutational signatures in polyposis and colorectal cancer.
Grolleman JE, Díaz-Gay M, Franch-Expósito S, Castellví-Bel S, de Voer RM. Grolleman JE, et al. Among authors: de voer rm. Mol Aspects Med. 2019 Oct;69:62-72. doi: 10.1016/j.mam.2019.05.002. Epub 2019 May 23. Mol Aspects Med. 2019. PMID: 31108140 Free article. Review.
Wnt genes in colonic polyposis predisposition.
Quintana I, Terradas M, Mur P, Te Paske IBAW, Peters S, Spier I, Steinke-Lange V, Maestro C, Torrents D, Puiggròs M, Royo R, Tonda R, Parra G, Piscia D, Beltrán S, Navarro M, Piñol V, Brunet J, Gonzalez-Abuin N, Aiza G, Sommer A, van Herwaarden Y, Astuti G, Holinski-Feder E, Hoogerbrugge N, de Voer RM, Aretz S, Capellá G, Valle L. Quintana I, et al. Among authors: de voer rm. Genes Dis. 2022 Dec 29;10(3):753-757. doi: 10.1016/j.gendis.2022.12.002. eCollection 2023 May. Genes Dis. 2022. PMID: 37396538 Free PMC article. No abstract available.
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
São José C, Garcia-Pelaez J, Ferreira M, Arrieta O, André A, Martins N, Solís S, Martínez-Benítez B, Ordóñez-Sánchez ML, Rodríguez-Torres M, Sommer AK, Te Paske IBAW, Caldas C, Tischkowitz M, Tusié MT; Solve-RD DITF-GENTURIS; Hoogerbrugge N, Demidov G, de Voer RM, Laurie S, Oliveira C. São José C, et al. Among authors: de voer rm. Gastric Cancer. 2023 Sep;26(5):653-666. doi: 10.1007/s10120-023-01395-0. Epub 2023 May 30. Gastric Cancer. 2023. PMID: 37249750 Free PMC article.
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: de voer r. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
Weren RD, Ligtenberg MJ, Geurts van Kessel A, De Voer RM, Hoogerbrugge N, Kuiper RP. Weren RD, et al. Among authors: de voer rm. J Pathol. 2018 Feb;244(2):135-142. doi: 10.1002/path.5002. Epub 2017 Dec 14. J Pathol. 2018. PMID: 29105096 Review.
60 results