Roberto Tirabosco
Royal National Orthopaedic Hospital
125 Papers
251 Citations
Roberto Tirabosco is an academic researcher from Royal National Orthopaedic Hospital. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 42, co-authored 110 publications.
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Papers
Frequent alterations in p16/CDKN2A identified by immunohistochemistry and FISH in chordoma.
Lucia Cottone,Nadia Eden,Inga Usher,Patrick Lombard,Hongtao Ye,Lorena Ligammari,Daniel Lindsay,Sebastian Brandner,Jože Pižem,Nischalan Pillay,Nischalan Pillay,Roberto Tirabosco,Fernanda Amary,Fernanda Amary,Adrienne M. Flanagan,Adrienne M. Flanagan +15 more
- 08 Jan 2020
TL;DR: It was identified that mRNA levels were comparable in tumours with and without p16 protein expression, but other events including DNA promoter hypermethylation, copy number neutral loss of heterozygosity and expression of candidate microRNAs previously implicated in the regulation of CDKN2A expression were not identified to explain the protein loss.
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Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma: characterization of five cases.
M Fernanda Amary,M Fernanda Amary,Paul O'Donnell,Paul O'Donnell,Fitim Berisha,Roberto Tirabosco,Timothy W. R. Briggs,Rob Pollock,Adrienne M. Flanagan,Adrienne M. Flanagan +9 more
TL;DR: Pseudomyogenic hemangioendothelioma represents a distinct recently characterized tumor type presenting in young adults, with a tendency towards multicentric bone and soft tissue involvement.
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Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
Sarah J. Aitken,Nadege Presneau,Sangeetha N Kalimuthu,Palma Dileo,Fitim Berisha,Roberto Tirabosco,M Fernanda Amary,Adrienne M. Flanagan +7 more
TL;DR: Next-generation sequencing is highly sensitive for the detection of CTNNB1 mutations and has the advantage of detecting additional mutations compared to those detected by mutation-specific restriction enzyme digestion (sensitivity 82.41 %).
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DNA methylation-based profiling of bone and soft tissue tumours: a validation study of the 'DKFZ Sarcoma Classifier'.
Iben Lyskjaer,Solange De Noon,Solange De Noon,Roberto Tirabosco,Ana Maia Rocha,Ana Maia Rocha,Daniel Lindsay,Daniel Lindsay,Fernanda Amary,Fernanda Amary,Hongtao Ye,Daniel Schrimpf,Daniel Schrimpf,Damian Stichel,Martin Sill,Christian Koelsche,Christian Koelsche,Nischalan Pillay,Andreas von Deimling,Andreas von Deimling,Stephan Beck,Adrienne M. Flanagan,Adrienne M. Flanagan +22 more
- 05 May 2021
TL;DR: In this article, a DNA methylation-based classifier for the diagnosis of bone and soft tissue neoplasms is presented. But, although a higher tumour purity resulted in a greater likelihood of a prediction being made, it did not correlate with classifier accuracy.
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Analysis of the fibroblastic growth factor receptor-RAS/RAF/MEK/ERK-ETS2/brachyury signalling pathway in chordomas
Asem Shalaby,Nadege Presneau,Bernadine Idowu,Lisa Thompson,Tim Briggs,Roberto Tirabosco,Timothy C. Diss,Adrienne M. Flanagan +7 more
TL;DR: The aim of this study was to attempt to identify the molecular genetic events that are responsible for the pathogenesis of chordomas with particular focus on the FGFR signalling pathway on the basis of the evidence in the ascidian and Xenopus models that the expression of brachyury requires the activation of this pathway.
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