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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Journal Article
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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Journal Article
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert-Desurmont, S, Alexandre, C, Lejeune Dumoulin, S, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Le Pessot, F, Hedouin, A, Carneiro, F, Blayau, M, Seruca, R
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Journal Article
Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion
Grandval, P, Baert-Desurmont, S, Bonnet, F, Bronner, M, Buisine, M-P, Colas, C, Noguchi, T, North, M-O, Rey, J-M, Tinat, J, Toulas, C, Olschwang, S
Published in Clinical genetics (01.07.2012)
Published in Clinical genetics (01.07.2012)
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Journal Article
Frequent mutation in North African patients with MUTYH-associated polyposis
Lefevre, JH, Colas, C, Coulet, F, Baert-Desurmont, S, Mongin, C, Tiret, E, Frebourg, T, Soubrier, F, Parc, Y
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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Journal Article
Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene
Pineda, M., Castellsagué, E., Musulén, E., Llort, G., Frebourg, T., Baert-Desurmont, S., González, S., Capellá, G., Blanco, I.
Published in Genes chromosomes & cancer (01.04.2008)
Published in Genes chromosomes & cancer (01.04.2008)
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Journal Article
The first mutations in the MYH gene reported in Moroccan colon cancer patients
Laarabi, F.Z., Cherkaoui Jaouad, I., Baert-Desurmont, S., Ouldim, K., Ibrahimi, A., Kanouni, N., Frebourg, T., Sefiani, A.
Published in Gene (15.03.2012)
Published in Gene (15.03.2012)
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Journal Article
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation
von Salomé, Jenny, Liu, Tao, Keihäs, Markku, Morak, Moni, Holinski-Feder, Elke, Berry, Ian R., Moilanen, Jukka S., Baert-Desurmont, Stéphanie, Lindblom, Annika, Lagerstedt-Robinson, Kristina
Published in Familial cancer (01.10.2018)
Published in Familial cancer (01.10.2018)
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Journal Article
Allelic imbalance of the TGF[beta]R1 is not a major contributor to the genetic predisposition to colorectal cancer
Abadie, C, Killian, A, Tinat, J, Bougeard, M, Medhaoui, D, Cailleux, A-f, Baert-desurmont, S, Frebourg, T
Published in British journal of cancer (26.04.2011)
Published in British journal of cancer (26.04.2011)
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Journal Article
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
Grandval, Philippe, Fabre, Aurélie J, Gaildrat, Pascaline, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Ferrari, Anthony, Wang, Qing, Béroud, Christophe, Olschwang, Sylviane
Published in Database : the journal of biological databases and curation (31.05.2013)
Published in Database : the journal of biological databases and curation (31.05.2013)
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Journal Article
Cardiac conduction alterations in a French family with amyloidosis of the finnish type with the p.Asp187Tyr mutation in the GSN gene
Chastan, Nathalie, Baert-Desurmont, Stéphanie, Saugier-Veber, Pascale, Dérumeaux, Geneviève, Cabot, Annick, Frébourg, Thierry, Hannequin, Didier
Published in Muscle & nerve (01.01.2006)
Published in Muscle & nerve (01.01.2006)
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Journal Article
HLA-A0201-restricted CEA-derived peptide CAP1 is not a suitable target for T-cell-based immunotherapy
Fauquembergue, Emilie, Toutirais, Olivier, Tougeron, David, Drouet, Aurélie, Le Gallo, Matthieu, Desille, Mireille, Cabillic, Florian, de La Pintière, Cécile Thomas, Iero, Manuela, Rivoltini, Licia, Baert-Desurmont, Stéphanie, Leprince, Jérôme, Vaudry, Hubert, Sesboué, Richard, Frébourg, Thierry, Latouche, Jean-Baptiste, Catros, Véronique
Published in Journal of immunotherapy (1997) (01.05.2010)
Published in Journal of immunotherapy (1997) (01.05.2010)
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Journal Article
The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences
Charbonnier, Françoise, Baert-Desurmont, Stephanie, Liang, Ping, Di Fiore, Frederic, Martin, Cosette, Frerot, Stephanie, Olschwang, Sylviane, Wang, Qing, Buisine, Marie-Pierre, Gilbert, Brigitte, Nilbert, Mef, Lindblom, Annika, Frebourg, Thierry
Published in Human mutation (01.09.2005)
Published in Human mutation (01.09.2005)
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Journal Article
The three nucleotide deletion within the 3 double prime untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome
Tinat, J, Baert-Desurmont, S, Latouche, J B, Vasseur, S, Martin, C, Bouvignies, E, FrEbourg, T
Published in Familial cancer (01.12.2008)
Published in Familial cancer (01.12.2008)
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Journal Article
The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome
Tinat, J., Baert-Desurmont, S., Latouche, J. B., Vasseur, S., Martin, C., Bouvignies, E., Frébourg, T.
Published in Familial cancer (01.12.2008)
Published in Familial cancer (01.12.2008)
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Journal Article
The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome
Tinat, J, Baert-Desurmont, S, Latouche, J B, Vasseur, S, Martin, C, Bouvignies, E, Frébourg, T
Published in Familial cancer (2008)
Published in Familial cancer (2008)
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Journal Article