Works by Presneau, Nadège


Results: 16
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    4

    A common single-nucleotide variant in T is strongly associated with chordoma.

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1185, doi. 10.1038/ng.2419
    By:
    • Pillay, Nischalan;
    • Plagnol, Vincent;
    • Tarpey, Patrick S;
    • Lobo, Samira B;
    • Presneau, Nadège;
    • Szuhai, Karoly;
    • Halai, Dina;
    • Berisha, Fitim;
    • Cannon, Stephen R;
    • Mead, Simon;
    • Kasperaviciute, Dalia;
    • Palmen, Jutta;
    • Talmud, Philippa J;
    • Kindblom, Lars-Gunnar;
    • Amary, M Fernanda;
    • Tirabosco, Roberto;
    • Flanagan, Adrienne M
    Publication type:
    Article
    5

    Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

    Published in:
    Nature Genetics, 2011, v. 43, n. 12, p. 1262, doi. 10.1038/ng.994
    By:
    • Amary, M Fernanda;
    • Damato, Stephen;
    • Halai, Dina;
    • Eskandarpour, Malihe;
    • Berisha, Fitim;
    • Bonar, Fiona;
    • McCarthy, Stan;
    • Fantin, Valeria R;
    • Straley, Kimberly S;
    • Lobo, Samira;
    • Aston, Will;
    • Green, Claire L;
    • Gale, Rosemary E;
    • Tirabosco, Roberto;
    • Futreal, Andrew;
    • Campbell, Peter;
    • Presneau, Nadège;
    • Flanagan, Adrienne M
    Publication type:
    Article
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    Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

    Published in:
    Nature Genetics, 2014, v. 46, n. 3, p. 316, doi. 10.1038/ng0314-316
    By:
    • 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
    Publication type:
    Article
    9

    Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

    Published in:
    Nature Genetics, 2013, v. 45, n. 12, p. 1479, doi. 10.1038/ng.2814
    By:
    • 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
    Publication type:
    Article
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    An NRAS mutation in a case of Erdheim-Chester disease.

    Published in:
    Histopathology, 2015, v. 66, n. 2, p. 316, doi. 10.1111/his.12443
    By:
    • Aitken, Sarah J;
    • Presneau, Nadège;
    • Tirabosco, Roberto;
    • Amary, Maria Fernanda;
    • O'Donnell, Paul;
    • Flanagan, Adrienne M
    Publication type:
    Article
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    15

    An integrated functional genomics approach identifies the regulatory network directed by brachyury ( T) in chordoma An integrated functional genomics approach identifies the regulatory network directed by brachyury ( T) in chordoma†.

    Published in:
    Journal of Pathology, 2012, v. 228, n. 3, p. 274, doi. 10.1002/path.4082
    By:
    • 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
    Publication type:
    Article
    16

    IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours.

    Published in:
    Journal of Pathology, 2011, v. 224, n. 3, p. 334, doi. 10.1002/path.2913
    By:
    • 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
    Publication type:
    Article