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An NRAS mutation in a case of Erdheim-Chester disease.
Aitken SJ, Presneau N, Tirabosco R, Amary MF, O'Donnell P, Flanagan AM. Aitken SJ, et al. Among authors: presneau n. Histopathology. 2015 Jan;66(2):316-9. doi: 10.1111/his.12443. Epub 2014 Sep 2. Histopathology. 2015. PMID: 24754681 No abstract available.
Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo-adjuvant chemotherapy.
Fernanda Amary M, Ye H, Berisha F, Khatri B, Forbes G, Lehovsky K, Frezza AM, Behjati S, Tarpey P, Pillay N, Campbell PJ, Tirabosco R, Presneau N, Strauss SJ, Flanagan AM. Fernanda Amary M, et al. Among authors: presneau n. Cancer Med. 2014 Aug;3(4):980-7. doi: 10.1002/cam4.268. Epub 2014 May 27. Cancer Med. 2014. PMID: 24861215 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
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.
Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM. Behjati S, et al. Among authors: presneau n. Nat Genet. 2013 Dec;45(12):1479-82. doi: 10.1038/ng.2814. Epub 2013 Oct 27. Nat Genet. 2013. PMID: 24162739 Free PMC article.
67 results