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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: dymerska d. 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.
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: dymerska d. 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.
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.
Skopelitou D, Srivastava A, Miao B, Kumar A, Dymerska D, Paramasivam N, Schlesner M, Lubinski J, Hemminki K, Försti A, Reddy Bandapalli O. Skopelitou D, et al. Among authors: dymerska d. Mol Genet Genomics. 2022 Jul;297(4):965-979. doi: 10.1007/s00438-022-01896-0. Epub 2022 May 13. Mol Genet Genomics. 2022. PMID: 35562597 Free PMC article.
Lynch syndrome mutations shared by the Baltic States and Poland.
Dymerska D, Kurzawski G, Suchy J, Roomere H, Toome K, Metspalu A, Janavičius R, Elsakov P, Irmejs A, Berzina D, Miklaševičs E, Gardovskis J, Rebane E, Kelve M, Kładny J, Huzarski T, Gronwald J, Dębniak T, Byrski T, Stembalska A, Surdyka D, Siołek M, Szwiec M, Banaszkiewicz Z, Wiśniowski R, Kilar E, Scott RJ, Lubiński J. Dymerska D, et al. Clin Genet. 2014 Aug;86(2):190-3. doi: 10.1111/cge.12251. Epub 2013 Sep 5. Clin Genet. 2014. PMID: 24032978 No abstract available.
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
Miao B, Skopelitou D, Srivastava A, Giangiobbe S, Dymerska D, Paramasivam N, Kumar A, Kuświk M, Kluźniak W, Paszkowska-Szczur K, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Miao B, et al. Among authors: dymerska d. Int J Mol Sci. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295. Int J Mol Sci. 2022. PMID: 35163215 Free PMC article.
Cancer Predisposition Genes in Cancer-Free Families.
Zheng G, Catalano C, Bandapalli OR, Paramasivam N, Chattopadhyay S, Schlesner M, Sijmons R, Hemminki A, Dymerska D, Lubinski J, Hemminki K, Försti A. Zheng G, et al. Among authors: dymerska d. Cancers (Basel). 2020 Sep 27;12(10):2770. doi: 10.3390/cancers12102770. Cancers (Basel). 2020. PMID: 32992489 Free PMC article.
23 results