Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Behjati, Sam, Tarpey, Patrick S, Presneau, Nadège, Scheipl, Susanne, Pillay, Nischalan, Van Loo, Peter, Wedge, David C, Cooke, Susanna L, Gundem, Gunes, Davies, Helen, Nik-Zainal, Serena, Martin, Sancha, McLaren, Stuart, Goodie, Victoria, Robinson, Ben, Butler, Adam, Teague, Jon W, Halai, Dina, Khatri, Bhavisha, Myklebost, Ola, Baumhoer, Daniel, Jundt, Gernot, Hamoudi, Rifat, Tirabosco, Roberto, Amary, M Fernanda, Futreal, P Andrew, Stratton, Michael R, Campbell, Peter J, Flanagan, Adrienne M
Published in Nature genetics (01.12.2013)
Published in Nature genetics (01.12.2013)
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Editorial: Advances in Cancer Diagnosis and Treatment
Hajjawi, Mark O. R., Wang, Qiuyu, Presneau, Nadege, Ladomery, Michael R.
Published in British journal of biomedical science (06.09.2024)
Published in British journal of biomedical science (06.09.2024)
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Detection of USP6 gene rearrangement in nodular fasciitis: an important diagnostic tool
Amary, M. Fernanda, Ye, Hongtao, Berisha, Fitim, Tirabosco, Roberto, Presneau, Nadege, Flanagan, Adrienne M.
Published in Virchows Archiv : an international journal of pathology (01.07.2013)
Published in Virchows Archiv : an international journal of pathology (01.07.2013)
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GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma
Delaney, David, Diss, Tim C, Presneau, Nadege, Hing, Sandra, Berisha, Fitim, Idowu, Bernadine D, O'Donnell, P, Skinner, John A, Tirabosco, Roberto, Flanagan, Adrienne M
Published in Modern pathology (01.05.2009)
Published in Modern pathology (01.05.2009)
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IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours
Amary, M Fernanda, Bacsi, Krisztian, Maggiani, Francesca, Damato, Stephen, Halai, Dina, Berisha, Fitim, Pollock, Robin, O'Donnell, Paul, Grigoriadis, Anita, Diss, Tim, Eskandarpour, Malihe, Presneau, Nadège, Hogendoorn, Pancras CW, Futreal, Andrew, Tirabosco, Roberto, Flanagan, Adrienne M
Published in The Journal of pathology (01.07.2011)
Published in The Journal of pathology (01.07.2011)
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Familial tumoral calcinosis and hyperostosis–hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3
Joseph, Leo, Hing, Sandra N., Presneau, Nadege, O’Donnell, Paul, Diss, Tim, Idowu, Bernadine D., Joseph, Selvanayagam, Flanagan, Adrienne Margaret, Delaney, David
Published in Skeletal radiology (01.01.2010)
Published in Skeletal radiology (01.01.2010)
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LIM Domains-Containing Protein 1 (LIMD1), a Tumor Suppressor Encoded at Chromosome 3p21.3, Binds pRB and Represses E2F-Driven Transcription
Sharp, Tyson V., Munoz, Fernando, Bourboulia, Dimitra, Presneau, Nadege, Darai, Eva, Wang, Hsei-Wei, Cannon, Mark, Butcher, David N., Nicholson, Andrew G., Klein, George, Imreh, Stephan, Boshoff, Chris
Published in Proceedings of the National Academy of Sciences - PNAS (23.11.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (23.11.2004)
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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
AMARY, M. Fernanda, DAMATO, Stephen, ASTON, Will, GREEN, Claire L, GALE, Rosemary E, TIRABOSCO, Roberto, FUTREAL, Andrew, CAMPBELL, Peter, PRESNEAU, Nadege, FLANAGAN, Adrienne M, HALAI, Dina, ESKANDARPOUR, Malihe, BERISHA, Fitim, BONAR, Fiona, MCCARTHY, Stan, FANTIN, Valeria R, STRALEY, Kimberly S, LOBO, Samira
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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Post-translational regulation contributes to the loss of LKB1 expression through SIRT1 deacetylase in osteosarcomas
Presneau, Nadège, Duhamel, Laure Alice, Ye, Hongtao, Tirabosco, Roberto, Flanagan, Adrienne M, Eskandarpour, Malihe
Published in British journal of cancer (25.07.2017)
Published in British journal of cancer (25.07.2017)
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An integrated functional genomics approach identifies the regulatory network directed by brachyury (T) in chordoma
Nelson, Andrew C, Pillay, Nischalan, Henderson, Stephen, Presneau, Nadège, Tirabosco, Roberto, Halai, Dina, Berisha, Fitim, Flicek, Paul, Stemple, Derek L, Stern, Claudio D, Wardle, Fiona C, Flanagan, Adrienne M
Published in The Journal of pathology (01.11.2012)
Published in The Journal of pathology (01.11.2012)
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Renal tumouroids: challenges of manufacturing 3D cultures from patient derived primary cells
Nyga, Agata, Stamati, Katerina, Redondo, Patricia A., Azimi, Tayebeh, Feber, Andrew, Neves, Joana B., Hamoudi, Rifat, Presneau, Nadège, El Sheikh, Soha, Tran, Maxine G. B., Emberton, Mark, Loizidou, Marilena, Cheema, Umber
Published in Journal of cell communication and signaling (01.12.2022)
Published in Journal of cell communication and signaling (01.12.2022)
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A common single-nucleotide variant in T is strongly associated with chordoma
PILLAY, Nischalan, PLAGNOL, Vincent, KASPERAVICIUTE, Dalia, PALMEN, Jutta, TALMUD, Philippa J, KINDBLOM, Lars-Gunnar, AMARY, M. Fernanda, TIRABOSCO, Roberto, FLANAGAN, Adrienne M, TARPEY, Patrick S, LOBO, Samira B, PRESNEAU, Nadege, SZUHAI, Karoly, HALAI, Dina, BERISHA, Fitim, CANNON, Stephen R, MEAD, Simon
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses
Aitken, Sarah J., Presneau, Nadège, Kalimuthu, Sangeetha, Dileo, Palma, Berisha, Fitim, Tirabosco, Roberto, Amary, M. Fernanda, Flanagan, Adrienne M.
Published in Virchows Archiv : an international journal of pathology (01.08.2015)
Published in Virchows Archiv : an international journal of pathology (01.08.2015)
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Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study
Presneau, Nadège, Shalaby, Asem, Ye, Hongtao, Pillay, Nischalan, Halai, Dina, Idowu, Bernadine, Tirabosco, Roberto, Whitwell, Duncan, Jacques, Thomas S, Kindblom, Lars-Gunnar, Brüderlein, Silke, Möller, Peter, Leithner, Andreas, Liegl, Bernadette, Amary, Fernanda M, Athanasou, Nicholas N, Hogendoorn, Pancras CW, Mertens, Fredrik, Szuhai, Karoly, Flanagan, Adrienne M
Published in The Journal of pathology (01.02.2011)
Published in The Journal of pathology (01.02.2011)
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The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target
Shalaby, Asem, Presneau, Nadège, Ye, Hongtao, Halai, Dina, Berisha, Fitim, Idowu, Bernadine, Leithner, Andreas, Liegl, Bernadette, Briggs, Timothy RW, Bacsi, Krisztian, Kindblom, Lars-Gunnar, Athanasou, Nicholas, Amary, Maria Fernanda, Hogendoorn, Pancras CW, Tirabosco, Roberto, Flanagan, Adrienne M
Published in The Journal of pathology (01.02.2011)
Published in The Journal of pathology (01.02.2011)
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Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast‐rich mimics
Presneau, Nadège, Baumhoer, Daniel, Behjati, Sam, Pillay, Nischalan, Tarpey, Patrick, Campbell, Peter J, Jundt, Gernot, Hamoudi, Rifat, Wedge, David C, Loo, Peter Van, Hassan, A Bassim, Khatri, Bhavisha, Ye, Hongtao, Tirabosco, Roberto, Amary, M Fernanda, Flanagan, Adrienne M
Published in The journal of pathology. Clinical research (01.04.2015)
Published in The journal of pathology. Clinical research (01.04.2015)
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The quest for a tumor suppressor gene phenotype
Presneau, Nadege, Manderson, Emily N, Tonin, Patricia N
Published in Current molecular medicine (01.11.2003)
Published in Current molecular medicine (01.11.2003)
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Fibroblastic growth factor receptor 1 amplification in osteosarcoma is associated with poor response to neo‐adjuvant chemotherapy
Fernanda Amary, M., Ye, Hongtao, Berisha, Fitim, Khatri, Bhavisha, Forbes, Georgina, Lehovsky, Katie, Frezza, Anna M., Behjati, Sam, Tarpey, Patrick, Pillay, Nischalan, Campbell, Peter J., Tirabosco, Roberto, Presneau, Nadège, Strauss, Sandra J., Flanagan, Adrienne M.
Published in Cancer medicine (Malden, MA) (01.08.2014)
Published in Cancer medicine (Malden, MA) (01.08.2014)
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An NRAS mutation in a case of Erdheim-Chester disease
Aitken, Sarah J, Presneau, Nadège, Tirabosco, Roberto, Amary, Maria Fernanda, O'Donnell, Paul, Flanagan, Adrienne M
Published in Histopathology (01.01.2015)
Published in Histopathology (01.01.2015)
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Frequency of Mouse Double Minute 2 (MDM2) and Mouse Double Minute 4 (MDM4) amplification in parosteal and conventional osteosarcoma subtypes
Duhamel, Laure A E, Ye, Hongtao, Halai, Dina, Idowu, Bernadine D, Presneau, Nadège, Tirabosco, Roberto, Flanagan, Adrienne M
Published in Histopathology (01.01.2012)
Published in Histopathology (01.01.2012)
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