Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
Lavoine, N, Colas, C, Muleris, M, Bodo, S, Duval, A, Entz-Werle, N, Coulet, F, Cabaret, O, Andreiuolo, F, Charpy, C, Sebille, G, Wang, Q, Lejeune, S, Buisine, M P, Leroux, D, Couillault, G, Leverger, G, Fricker, J P, Guimbaud, R, Mathieu-Dramard, M, Jedraszak, G, Cohen-Hagenauer, O, Guerrini-Rousseau, L, Bourdeaut, F, Grill, J, Caron, O, Baert-Dusermont, S, Tinat, J, Bougeard, G, Frébourg, T, Brugières, L
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families
Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, Paillerets, B Bressac-de, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T
Published in Journal of medical genetics (01.08.2008)
Published in Journal of medical genetics (01.08.2008)
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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome
Bougeard, G, Baert-Desurmont, S, Tournier, I, Vasseur, S, Martin, C, Brugieres, L, Chompret, A, Bressac-de Paillerets, B, Stoppa-Lyonnet, D, Bonaiti-Pellie, C, Frebourg, T
Published in Journal of medical genetics (01.06.2006)
Published in Journal of medical genetics (01.06.2006)
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A new genotoxicity assay based on p53 target gene induction
Zerdoumi, Y., Kasper, E., Soubigou, F., Adriouch, S., Bougeard, G., Frebourg, T., Flaman, J-M.
Published in Mutation research. Genetic toxicology and environmental mutagenesis (01.08.2015)
Published in Mutation research. Genetic toxicology and environmental mutagenesis (01.08.2015)
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TP53 mutations predict disease control in metastatic colorectal cancer treated with cetuximab-based chemotherapy
Oden-Gangloff, A, Di Fiore, F, Bibeau, F, Lamy, A, Bougeard, G, Charbonnier, F, Blanchard, F, Tougeron, D, Ychou, M, Boissière, F, Le Pessot, F, Sabourin, J-C, Tuech, J-J, Michel, P, Frebourg, T
Published in British journal of cancer (21.04.2009)
Published in British journal of cancer (21.04.2009)
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Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome
BOUGEARD, Gaelle, LIMACHER, Jean-Marc, FLAMAN, Jean-Michel, FREBOURG, Thierry, MARTIN, Cosette, CHARBONNIER, Francoise, KILLIAN, Audrey, DELATTRE, Olivier, LONGY, Michel, JONVEAUX, Philippe, FRICKER, Jean-Pierre, STOPPA-LYONNET, Dominique
Published in Journal of medical genetics (01.04.2001)
Published in Journal of medical genetics (01.04.2001)
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A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families
Calvete, Oriol, Martinez, Paula, Garcia-Pavia, Pablo, Benitez-Buelga, Carlos, Paumard-Hernández, Beatriz, Fernandez, Victoria, Dominguez, Fernando, Salas, Clara, Romero-Laorden, Nuria, Garcia-Donas, Jesus, Carrillo, Jaime, Perona, Rosario, Triviño, Juan Carlos, Andrés, Raquel, Cano, Juana María, Rivera, Bárbara, Alonso-Pulpon, Luis, Setien, Fernando, Esteller, Manel, Rodriguez-Perales, Sandra, Bougeard, Gaelle, Frebourg, Tierry, Urioste, Miguel, Blasco, Maria A., Benítez, Javier
Published in Nature communications (25.09.2015)
Published in Nature communications (25.09.2015)
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Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours
Aury-Landas, Juliette, Bougeard, Gaëlle, Castel, Hélène, Hernandez-Vargas, Hector, Drouet, Aurélie, Latouche, Jean-Baptiste, Schouft, Marie-Thérèse, Férec, Claude, Leroux, Dominique, Lasset, Christine, Coupier, Isabelle, Caron, Olivier, Herceg, Zdenko, Frebourg, Thierry, Flaman, Jean-Michel
Published in European journal of human genetics : EJHG (01.12.2013)
Published in European journal of human genetics : EJHG (01.12.2013)
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Inactivation of the RRB1-Pescadillo pathway involved in ribosome biogenesis induces chromosomal instability
KILLIAN, Audrey, LE MEUR, Nathalie, SESBOÜE, Richard, BOURGUIGNON, Jeannette, BOUGEARD, Gaëlle, GAUTHEROT, Julien, BASTARD, Christian, FREBOURG, Thierry, FLAMAN, Jean-Michel
Published in Oncogene (11.11.2004)
Published in Oncogene (11.11.2004)
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Serum antibodies to huntingtin interacting protein. 1: A new blood test for prostate cancer
BRADLEY, Sarah V, ORAVECZ-WILSON, Katherine I, ROSS, Theodora S, BOUGEARD, Gaelle, MIZUKAMI, Ikuko, LINA LI, MUNACO, Anthony J, SREEKUMAR, Arun, CORRADETTI, Michael N, CHINNAIYAN, Arul M, SANDA, Martin G
Published in Cancer research (Chicago, Ill.) (15.05.2005)
Published in Cancer research (Chicago, Ill.) (15.05.2005)
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TP63 gene mutation in ADULT syndrome
Amiel, J, Bougeard, G, Francannet, C, Raclin, V, Munnich, A, Lyonnet, S, Frebourg, T
Published in European journal of human genetics : EJHG (01.08.2001)
Published in European journal of human genetics : EJHG (01.08.2001)
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The Rapp-Hodgkin syndrome results from mutations of the TP63 gene
BOUGEARD, Gaëlle, HADJ-RABIA, Smaïl, FAIVRE, Laurence, SARAFAN-VASSEUR, Nasrin, FREBOURG, Thierry
Published in European journal of human genetics : EJHG (01.09.2003)
Published in European journal of human genetics : EJHG (01.09.2003)
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Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene
BOUGEARD, Gaëlle, BRUGIERES, Laurence, FREBOURG, Thierry, CHOMPRET, Agnès, GESTA, Paul, CHARBONNIER, Francoise, VALENT, Alexander, MARTIN, Cosette, RAUX, Grégory, FEUNTEUN, Jean, BRESSAC-DE PAILLERETS, Brigitte
Published in Oncogene (13.02.2003)
Published in Oncogene (13.02.2003)
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CO.21 Intérêt de la recherche des mutations de TP53 chez les patients sans mutation de KRAS traités par cetuximab plus chimiothérapie pour un cancer colorectal métastatique
Oden Gangloff, A., Di Fiore, F., Bibeau, F., Lamy, A., Bougeard, G., Charbonnier, F., Blanchard, F., Tougeron, D., Ychou, M., Boissière, F., Le Pessot, F., Sabourin, J.C., Tuech, J.J., Michel, P., Frébourg, T.
Published in Gastroentérologie clinique et biologique (01.03.2009)
Published in Gastroentérologie clinique et biologique (01.03.2009)
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