Bilaketaren emaitzak - Mazoyer, Sylvie

Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues nork Zetoune, Almoutassem B, Fontanière, Sandra, Magnin, Delphine, Anczuków, Olga, Buisson, Monique, Zhang, Chang X, Mazoyer, Sylvie

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Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot nork Puget, Nadine, Gad, Sophie, Perrin-Vidoz, Laure, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Lenoir, Gilbert M., Mazoyer, Sylvie

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Down-regulation of BRCA1 expression by miR-146a and miR-146b-5p in triple negative sporadic breast cancers nork Garcia, Amandine I, Buisson, Monique, Bertrand, Pascale, Rimokh, Ruth, Rouleau, Etienne, Lopez, Bernard S, Lidereau, Rosette, Mikaélian, Ivan, Mazoyer, Sylvie

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BRCA1-Dependent Translational Regulation in Breast Cancer Cells nork Dacheux, Estelle, Vincent, Anne, Nazaret, Nicolas, Combet, Christophe, Wierinckx, Anne, Mazoyer, Sylvie, Diaz, Jean-Jacques, Lachuer, Joël, Venezia, Nicole Dalla

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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability nork Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick

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Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene nork Tessereau, Chloé, Buisson, Monique, Monnet, Nastasia, Imbert, Marine, Barjhoux, Laure, Schluth-Bolard, Caroline, Sanlaville, Damien, Conseiller, Emmanuel, Ceppi, Maurizio, Sinilnikova, Olga M., Mazoyer, Sylvie

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Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequen... nork Unger, Meredith A., Nathanson, Katherine L., Calzone, Kathleen, Antin-Ozerkis, Danielle, Shih, Helen A., Martin, Anne-Marie, Lenoir, Gilbert M., Mazoyer, Sylvie, L. Weber, Barbara

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Estimation of the RNU2 macrosatellite mutation rate by BRCA1 mutation tracing nork Tessereau, Chloé, Lesecque, Yann, Monnet, Nastasia, Buisson, Monique, Barjhoux, Laure, Léoné, Mélanie, Feng, Bingjian, Goldgar, David E., Sinilnikova, Olga M., Mousset, Sylvain, Duret, Laurent, Mazoyer, Sylvie

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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer nork Rebbeck, Timothy R., Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M., Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F., Antoniou, Antonis C., Nathanson, Katherine L.

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Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene nork Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Benetollo, Claire, Saccaro, Clément, Guguin, Justine, Sala, Gabriel, Cologne, Audric, Delous, Marion, Lesca, Gaetan, Padgett, Richard A., Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie

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New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients nork Cologne, Audric, Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Campan-Fournier, Amandine, Bober, Michael B., De Die-Smulders, Christine E.M., Paulussen, Aimee D.C., Pinson, Lucile, Toutain, Annick, Roifman, Chaim M., Leutenegger, Anne-Louise, Mazoyer, Sylvie, Edery, Patrick, Lacroix, Vincent

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Familial Site-specific Ovarian Cancer Is Linked to BRCA1 on 17q12-21 nork Steichen-Gersdorf, Elisabeth, Gallion, Holly H., Ford, Deborah, Girodet, Catherine, Easton, Douglas F., DiCioccio, Richard A., Evans, Gareth, Ponder, Margaret A., Pye, Carole, Mazoyer, Sylvie, Noguchi, Tetsuro, Karengueven, Fabienne, Sobol, Hagay, Hardouin, A., Bignon, Yves-Jean, Piver, M. Steven, Smith, Simon A., Ponder, Bruce A. J.

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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2 nork Blein, Sophie, Barjhoux, Laure, Damiola, Francesca, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Marcou, Morgane, Caron, Olivier, Lortholary, Alain, Buecher, Bruno, Vennin, Philippe, Berthet, Pascaline, Noguès, Catherine, Lasset, Christine, Gauthier-Villars, Marion, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Thomas, Gilles, Sinilnikova, Olga M., Cox, David G.

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Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study nork Garcia, Amandine I, Buisson, Monique, Damiola, Francesca, Tessereau, Chloé, Barjhoux, Laure, Verny-Pierre, Carole, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Caron, Olivier, Gautier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Vennin, Philippe, Belotti, Muriel, Lortholary, Alain, Gesta, Paul, Dugast, Catherine, Noguès, Catherine, Fricker, Jean-Pierre, Faivre, Laurence, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M, Mazoyer, Sylvie

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5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints nork Caputo, Sandrine M., Telly, Dominique, Briaux, Adrien, Sesen, Julie, Ceppi, Maurizio, Bonnet, Françoise, Bourdon, Violaine, Coulet, Florence, Castera, Laurent, Delnatte, Capucine, Hardouin, Agnès, Mazoyer, Sylvie, Schultz, Inès, Sevenet, Nicolas, Uhrhammer, Nancy, Bonnet, Céline, Tilkin-Mariamé, Anne-Françoise, Houdayer, Claude, Moncoutier, Virginie, Andrieu, Catherine, Bièche, Ivan, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Lidereau, Rosette, Toulas, Christine, Rouleau, Etienne

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Whole Exome Sequencing Suggests Much of Non-BRCA1/BRCA2 Familial Breast Cancer Is Due to Moderate and Low Penetrance Susceptibility Alleles nork Gracia-Aznarez, Francisco Javier, Fernandez, Victoria, Pita, Guillermo, Peterlongo, Paolo, Dominguez, Orlando, de la Hoya, Miguel, Duran, Mercedes, Osorio, Ana, Moreno, Leticia, Gonzalez-Neira, Anna, Rosa-Rosa, Juan Manuel, Sinilnikova, Olga, Mazoyer, Sylvie, Hopper, John, Lazaro, Conchi, Southey, Melissa, Odefrey, Fabrice, Manoukian, Siranoush, Catucci, Irene, Caldes, Trinidad, Lynch, Henry T., Hilbers, Florentine S. M., van Asperen, Christi J., Vasen, Hans F. A., Goldgar, David, Radice, Paolo, Devilee, Peter, Benitez, Javier

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort nork Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort nork Leman, Raphaël, Gaildrat, Pascaline, Gac, Gérald L, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Paillerets, Brigitte Bressac-de, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort nork Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers nork Lesueur, Fabienne, Mebirouk, Noura, Jiao, Yue, Barjhoux, Laure, Belotti, Muriel, Laurent, Maïté, Léone, Mélanie, Houdayer, Claude, Bressac-de Paillerets, Brigitte, Vaur, Dominique, Sobol, Hagay, Noguès, Catherine, Longy, Michel, Mortemousque, Isabelle, Fert-Ferrer, Sandra, Mouret-Fourme, Emmanuelle, Pujol, Pascal, Venat-Bouvet, Laurence, Bignon, Yves-Jean, Leroux, Dominique, Coupier, Isabelle, Berthet, Pascaline, Mari, Véronique, Delnatte, Capucine, Gesta, Paul, Collonge-Rame, Marie-Agnès, Giraud, Sophie, Bonadona, Valérie, Baurand, Amandine, Faivre, Laurence, Buecher, Bruno, Lasset, Christine, Gauthier-Villars, Marion, Damiola, Francesca, Mazoyer, Sylvie, Caputo, Sandrine M., Andrieu, Nadine, Stoppa-Lyonnet, Dominique

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