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A common single-nucleotide variant in T is strongly associated with chordoma.
Pillay N, Plagnol V, Tarpey PS, Lobo SB, Presneau N, Szuhai K, Halai D, Berisha F, Cannon SR, Mead S, Kasperaviciute D, Palmen J, Talmud PJ, Kindblom LG, Amary MF, Tirabosco R, Flanagan AM. Pillay N, et al. Among authors: presneau n. Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064415
A molecular map of mesenchymal tumors.
Henderson SR, Guiliano D, Presneau N, McLean S, Frow R, Vujovic S, Anderson J, Sebire N, Whelan J, Athanasou N, Flanagan AM, Boshoff C. Henderson SR, et al. Among authors: presneau n. Genome Biol. 2005;6(9):R76. doi: 10.1186/gb-2005-6-9-r76. Epub 2005 Aug 26. Genome Biol. 2005. PMID: 16168083 Free PMC article.
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study.
Presneau N, Shalaby A, Ye H, Pillay N, Halai D, Idowu B, Tirabosco R, Whitwell D, Jacques TS, Kindblom LG, Brüderlein S, Möller P, Leithner A, Liegl B, Amary FM, Athanasou NN, Hogendoorn PC, Mertens F, Szuhai K, Flanagan AM. Presneau N, et al. J Pathol. 2011 Feb;223(3):327-35. doi: 10.1002/path.2816. Epub 2010 Nov 24. J Pathol. 2011. PMID: 21171078
Comparative methylome analysis of benign and malignant peripheral nerve sheath tumors.
Feber A, Wilson GA, Zhang L, Presneau N, Idowu B, Down TA, Rakyan VK, Noon LA, Lloyd AC, Stupka E, Schiza V, Teschendorff AE, Schroth GP, Flanagan A, Beck S. Feber A, et al. Among authors: presneau n. Genome Res. 2011 Apr;21(4):515-24. doi: 10.1101/gr.109678.110. Epub 2011 Feb 1. Genome Res. 2011. PMID: 21324880 Free PMC article.
IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours.
Amary MF, Bacsi K, Maggiani F, Damato S, Halai D, Berisha F, Pollock R, O'Donnell P, Grigoriadis A, Diss T, Eskandarpour M, Presneau N, Hogendoorn PC, Futreal A, Tirabosco R, Flanagan AM. Amary MF, et al. Among authors: presneau n. J Pathol. 2011 Jul;224(3):334-43. doi: 10.1002/path.2913. Epub 2011 May 19. J Pathol. 2011. PMID: 21598255
67 results