Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomasManié, Elodie ; Popova, Tatiana ; Battistella, Aude ; Tarabeux, Julien ; Caux‐Moncoutier, Virginie ; Golmard, Lisa ; Smith, Nicholas K. ; Mueller, Christopher R. ; Mariani, Odette ; Sigal‐Zafrani, Brigitte ; Dubois, Thierry ; Vincent‐Salomon, Anne ; Houdayer, Claude ; Stoppa‐Lyonnet, Dominique ; Stern, Marc‐HenriInternational journal of cancer, 2016-02, Vol.138 (4), p.891-900 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteinsAnczuków, Olga ; Ware, Mark D ; Buisson, Monique ; Zetoune, Almoutassem B ; Stoppa-Lyonnet, Dominique ; Sinilnikova, Olga M ; Mazoyer, SylvieHuman mutation, 2008, Vol.29 (1), p.65-73 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsHoudayer, Claude ; Caux-Moncoutier, Virginie ; Krieger, Sophie ; Barrois, Michel ; Bonnet, Françoise ; Bourdon, Violaine ; Bronner, Myriam ; Buisson, Monique ; Coulet, Florence ; Gaildrat, Pascaline ; Lefol, Cédrick ; Léone, Mélanie ; Mazoyer, Sylvie ; Muller, Danielle ; Remenieras, Audrey ; Révillion, Françoise ; Rouleau, Etienne ; Sokolowska, Joanna ; Vert, Jean-Philippe ; Lidereau, Rosette ; Soubrier, Florent ; Sobol, Hagay ; Sevenet, Nicolas ; Bressac-de Paillerets, Brigitte ; Hardouin, Agnès ; Tosi, Mario ; Sinilnikova, Olga M. ; Stoppa-Lyonnet, DominiqueHuman mutation, 2012-08, Vol.33 (8), p.1228-1238 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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“Decoding hereditary breast cancer” benefits and questions from multigene panel testingColas, Chrystelle ; Golmard, Lisa ; de Pauw, Antoine ; Caputo, Sandrine M. ; Stoppa-Lyonnet, DominiqueBreast (Edinburgh), 2019-06, Vol.45, p.29-35 [Periódico revisado por pares]Netherlands: Elsevier LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer PredispositionSantana Dos Santos, Elizabeth ; Lallemand, François ; Burke, Leslie ; Stoppa-Lyonnet, Dominique ; Brown, Melissa ; Caputo, Sandrine M ; Rouleau, EtienneCancers, 2018-11, Vol.10 (11), p.453 [Periódico revisado por pares]Switzerland: MDPITexto completo disponível |
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Material Type: Artigo
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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragmentsCasilli, Federica ; Di Rocco, Zorika Christiana ; Gad, Sophie ; Tournier, Isabelle ; Stoppa-Lyonnet, Dominique ; Frebourg, Thierry ; Tosi, MarioHuman mutation, 2002-09, Vol.20 (3), p.218-226 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancersNatrajan, Rachael ; Mackay, Alan ; Lambros, Maryou B ; Weigelt, Britta ; Wilkerson, Paul M ; Manie, Elodie ; Grigoriadis, Anita ; A'Hern, Roger ; van der Groep, Petra ; Kozarewa, Iwanka ; Popova, Tatiana ; Mariani, Odette ; Turajlic, Samra ; Furney, Simon J ; Marais, Richard ; Rodruigues, Daniel-Nava ; Flora, Adriana C ; Wai, Patty ; Pawar, Vidya ; McDade, Simon ; Carroll, Jason ; Stoppa-Lyonnet, Dominique ; Green, Andrew R ; Ellis, Ian O ; Swanton, Charles ; van Diest, Paul ; Delattre, Olivier ; Lord, Christopher J ; Foulkes, William D ; Vincent-Salomon, Anne ; Ashworth, Alan ; Stern, Marc Henri ; Reis-Filho, Jorge SThe Journal of pathology, 2012-05, Vol.227 (1), p.29-41 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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8 |
Material Type: Artigo
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The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriersGarcia, Amandine I. ; Cox, David G. ; Barjhoux, Laure ; Verny-Pierre, Carole ; Barnes, Daniel ; Antoniou, Antonis C. ; Stoppa-Lyonnet, Dominique ; Sinilnikova, Olga M. ; Mazoyer, SylvieHuman mutation, 2011-09, Vol.32 (9), p.1004-1007 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patientsCaux-Moncoutier, Virginie ; Castéra, Laurent ; Tirapo, Carole ; Michaux, Dorothée ; Rémon, Marie-Alice ; Laugé, Anthony ; Rouleau, Etienne ; De Pauw, Antoine ; Buecher, Bruno ; Gauthier-Villars, Marion ; Viovy, Jean-Louis ; Stoppa-Lyonnet, Dominique ; Houdayer, ClaudeHuman mutation, 2011-03, Vol.32 (3), p.325-334 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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10 |
Material Type: Artigo
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Prophylactic salpingo‐oophorectomy in a series of 89 women carrying a BRCA1 or a BRCA2 mutationLaki, Fatima ; Kirova, Youlia M. ; This, Pascale ; Plancher, Corinne ; Asselain, Bernard ; Sastre, Xavier ; Stoppa‐Lyonnet, Dominique ; Salmon, RemyCancer, 2007-05, Vol.109 (9), p.1784-1790 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |