2009 version of the Chompret criteria for Li Fraumeni syndrome von Tinat, Julie, Bougeard, Gaelle, Baert-Desurmont, Stéphanie, Vasseur, Stéphanie, Martin, Cosette, Bouvignies, Emilie, Caron, Olivier, Bressac-de Paillerets, Brigitte, Berthet, Pascaline, Dugast, Catherine, Bonaïti-Pellié, Catherine, Stoppa-Lyonnet, Dominique, Frébourg, Thierry

Volltext

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum von Campion, Dominique, Dumanchin, Cécile, Hannequin, Didier, Dubois, Bruno, Belliard, Serge, Puel, Michèle, Thomas-Anterion, Catherine, Michon, Agnès, Martin, Cosette, Charbonnier, Françoise, Raux, Grégory, Camuzat, Agnès, Penet, Christiane, Mesnage, Valérie, Martinez, Maria, Clerget-Darpoux, Françoise, Brice, Alexis, Frebourg, Thierry

Volltext

Diversity of the clinical presentation of the MMR gene biallelic mutations von Bougeard, Gaëlle, Olivier-Faivre, Laurence, Baert-Desurmont, Stéphanie, Tinat, Julie, Martin, Cosette, Bouvignies, Emilie, Vasseur, Stéphanie, Huet, Frédéric, Couillault, Gérard, Vabres, Pierre, Le Pessot, Florence, Chapusot, Caroline, Malka, David, Bressac-de Paillerets, Brigitte, Tosi, Mario, Frebourg, Thierry

Volltext

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome von 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

Volltext

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer von CHARBONNIER, Francoise, OLSCHWANG, Sylviane, QING WANG, BOISSON, Cécile, MARTIN, Cosette, BUISINE, Marie-Pierre, PUISIEUX, Alain, FREBOURG, Thierry

Volltext

Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children von Bougeard, Gaëlle, Charbonnier, Françoise, Moerman, Alexandre, Martin, Cosette, Ruchoux, Marie M., Drouot, Nathalie, Frébourg, Thierry

Volltext

Segregation of a Missense Mutation in the Microtubule-Associated Protein Tau Gene with Familial Frontotemporal Dementia and Parkinsonism von Dumanchin, Cécile, Camuzat, Agnès, Campion, Dominique, Verpillat, Patrice, Hannequin, Didier, Dubois, Bruno, Saugier-Veber, Pascale, Martin, Cosette, Penet, Christiane, Charbonnier, Françoise, Agid, Yves, Frebourg, Thierry, Brice, Alexis

Volltext

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques von Dumanchin, Cecile, Tournier, Isabelle, Martin, Cosette, Didic, Mira, Belliard, Serge, Carlander, Bertrand, Rouhart, François, Duyckaerts, Charles, Pellissier, Jean-François, Latouche, Jean Baptiste, Hannequin, Didier, Frebourg, Thierry, Tosi, Mario, Campion, Dominique

Volltext

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer von BAERT-DESURMONT, Stephanie, BUISINE, Marie-Pierre, BESSENAY, Emilie, FREROT, Stephanie, LOVECCHIO, Tonio, MARTIN, Cosette, OLSCHWANG, Sylviane, QING WANG, FREBOURG, Thierry

Volltext

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease von Campion, Dominique, Flaman, Jean-Michel, Brice, Alexis, Hannequin, Didier, Dubois, Bruno, Martin, Cosette, Moreau, Viviane, Charbonnier, Françoise, Didierjean, Olivier, Tardieu, Sandrine, Penet, Christiane, Puel, Michèle, Pasquier, Florence, Le Doze, François, Bellis, Gil, Calenda, Alphonse, Heilig, Roland, Martinez, Maria, Mallet, Jacques, Bellis, Michel, Clerget-Darpoux, Françoise, Agid, Yves, Frebourg, Thierry

Volltext

Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene von BOUGEARD, Gaëlle, BRUGIERES, Laurence, FREBOURG, Thierry, CHOMPRET, Agnès, GESTA, Paul, CHARBONNIER, Francoise, VALENT, Alexander, MARTIN, Cosette, RAUX, Grégory, FEUNTEUN, Jean, BRESSAC-DE PAILLERETS, Brigitte

Volltext

Presenilins Interact with Rab11, a Small GTPase Involved in the Regulation of Vesicular Transport von Dumanchin, Cécile, Czech, Christian, Campion, Dominique, Cuif, Marie Hélène, Poyot, Thomas, Martin, Cosette, Charbonnier, Françoise, Goud, Bruno, Pradier, Laurent, Frebourg, Thierry

Volltext

The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences von 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

Volltext

Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome von LE MEUR, Nathalie, MARTIN, Cosette, FREBOURG, Thierry, SAUGIER-VEBER, Pascale, JOLY, Géraldine, LEMOINE, Francoise, MOIROT, Hélène, ROSSI, Annick, BACHY, Bruno, CABOT, Annick, JOLY, Pascal

Volltext

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer von Baert-Desurmont, Stephanie, Buisine, Marie-Pierre, Bessenay, Emilie, Frerot, Stephanie, Lovecchio, Tonio, Martin, Cosette, Olschwang, Sylviane, Wang, Qing, Frebourg, Thierry

Volltext

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 von 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

Volltext

High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis von Robert, Valérie, Michel, Pierre, Flaman, Jean Michel, Chiron, Anne, Martin, Cosette, Charbonnier, Francoise, Paillot, Bernard, Frebourg, Thierry

Volltext

Apolipoprotein E and Alzheimer disease : Genotype-specific risks by age and sex von BICKEBÖLLER, H, CAMPION, D, DUBOIS, B, LEDOZE, F, THOMAS-ANTERION, C, PASQUIER, F, PUEL, M, DEMONET, J.-F, MOREAUD, O, BABRON, M.-C, MEULIEN, D, GUEZ, D, BRICE, A, CHARTIER-HARLIN, B. M.-C, FREBOURG, T, AGID, Y, MARTINEZ, M, CLERGET-DARPOUX, F, AMOUYEL, P, HANNEQUIN, D, DIDIERJEAN, O, PENET, C, MARTIN, C, PEREZ-TUR, J, MICHON, A

Volltext

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method von Tournier, Isabelle, Raux, Grégory, Fiore, Fréderic Di, Maréchal, Isabelle, Leclerc, Carole, Martin, Cosette, Wang, Qing, Buisine, Marie-Pierre, Stoppa-Lyonnet, Dominique, Olschwang, Sylviane, Frébourg, Thierry, Tosi, Mario

Volltext

Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method: Allele-Specific Expression Measured By DHPLC von Tournier, Isabelle, Raux, Grégory, Fiore, Fréderic Di, Maréchal, Isabelle, Leclerc, Carole, Martin, Cosette, Wang, Qing, Buisine, Marie-Pierre, Stoppa-Lyonnet, Dominique, Olschwang, Sylviane, Frébourg, Thierry, Tosi, Mario

Volltext