Search Results - "Fermey, Pierre"

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers by Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R, Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry

“…The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical…”
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Familial solitary chondrosarcoma resulting from germline EXT2 mutation by Heddar, Abdelkader, Fermey, Pierre, Coutant, Sophie, Angot, Emilie, Sabourin, Jean‐Christophe, Michelin, Paul, Parodi, Nathalie, Charbonnier, Françoise, Vezain, Myriam, Bougeard, Gaëlle, Baert‐Desurmont, Stéphanie, Frébourg, Thierry, Tournier, Isabelle

“…Germline mutations of EXT2, encoding Exostosin Glycosyltransferase 2, are associated with multiple osteochondromas (MO), an autosomal dominant disease…”
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