Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Marion, Gauthier-Villars"'
Autor:
Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the
Externí odkaz:
https://doaj.org/article/af6164b5d9da485aafb99171c8d09aba
Autor:
Jing Liu, Daniela Ottaviani, Meriem Sefta, Céline Desbrousses, Elodie Chapeaublanc, Rosario Aschero, Nanor Sirab, Fabiana Lubieniecki, Gabriela Lamas, Laurie Tonon, Catherine Dehainault, Clément Hua, Paul Fréneaux, Sacha Reichman, Narjesse Karboul, Anne Biton, Liliana Mirabal-Ortega, Magalie Larcher, Céline Brulard, Sandrine Arrufat, André Nicolas, Nabila Elarouci, Tatiana Popova, Fariba Némati, Didier Decaudin, David Gentien, Sylvain Baulande, Odette Mariani, Florent Dufour, Sylvain Guibert, Céline Vallot, Livia Lumbroso-Le Rouic, Alexandre Matet, Laurence Desjardins, Guillem Pascual-Pasto, Mariona Suñol, Jaume Catala-Mora, Genoveva Correa Llano, Jérôme Couturier, Emmanuel Barillot, Paula Schaiquevich, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Lisa Golmard, Claude Houdayer, Hervé Brisse, Isabelle Bernard-Pierrot, Eric Letouzé, Alain Viari, Simon Saule, Xavier Sastre-Garau, François Doz, Angel M. Carcaboso, Nathalie Cassoux, Celio Pouponnot, Olivier Goureau, Guillermo Chantada, Aurélien de Reyniès, Isabelle Aerts, François Radvanyi
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-20 (2021)
Retinoblastoma is the most frequent intraocular paediatric malignancy whose molecular basis remains poorly understood. Here, the authors perform multi-omic analysis and identify two subtypes; one in a cone differentiated state and one more aggressive
Externí odkaz:
https://doaj.org/article/92fda6743ce64715a5b5d4c807ca5ced
Autor:
Maximiliano Ribeiro Guerra, Juliette Coignard, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Olivier Caron, Marion Gauthier-Villars, Isabelle Coupier, Bruno Buecher, Alain Lortholary, Jean-Pierre Fricker, Paul Gesta, Catherine Noguès, Laurence Faivre, Pascaline Berthet, Elisabeth Luporsi, Capucine Delnatte, Valérie Bonadona, Christine M. Maugard, Pascal Pujol, Christine Lasset, Michel Longy, Yves-Jean Bignon, Claude Adenis-Lavignasse, Laurence Venat-Bouvet, Hélène Dreyfus, Laurence Gladieff, Isabelle Mortemousque, Séverine Audebert-Bellanger, Florent Soubrier, Sophie Giraud, Sophie Lejeune-Dumoulin, Jean-Marc Limacher, Jean Chiesa, Anne Fajac, Anne Floquet, François Eisinger, Julie Tinat, Sandra Fert-Ferrer, Chrystelle Colas, Thierry Frebourg, Francesca Damiola, Laure Barjhoux, Eve Cavaciuti, Sylvie Mazoyer, Anne Tardivon, Fabienne Lesueur, Dominique Stoppa-Lyonnet, Nadine Andrieu
Publikováno v:
Breast Cancer Research, Vol 23, Iss 1, Pp 1-18 (2021)
Abstract Background Diagnostic ionizing radiation is a risk factor for breast cancer (BC). BC risk increases with increased dose to the chest and decreases with increased age at exposure, with possible effect modification related to familial or genet
Externí odkaz:
https://doaj.org/article/05b28748776f4262a15ac8cbdc209e60
Autor:
Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab, BCFR
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-11 (2020)
Abstract Background The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospect
Externí odkaz:
https://doaj.org/article/d2bd4331f6ac44868c0ed8e56dec068e
Autor:
Nasim Mavaddat, Antonis C. Antoniou, Thea M. Mooij, Maartje J. Hooning, Bernadette A. Heemskerk-Gerritsen, GENEPSO, Catherine Noguès, Marion Gauthier-Villars, Olivier Caron, Paul Gesta, Pascal Pujol, Alain Lortholary, EMBRACE, Daniel Barrowdale, Debra Frost, D. Gareth Evans, Louise Izatt, Julian Adlard, Ros Eeles, Carole Brewer, Marc Tischkowitz, Alex Henderson, Jackie Cook, Diana Eccles, HEBON, Klaartje van Engelen, Marian J. E. Mourits, Margreet G. E. M. Ausems, Linetta B. Koppert, John L. Hopper, Esther M. John, Wendy K. Chung, Irene L. Andrulis, Mary B. Daly, Saundra S. Buys, kConFab Investigators, Javier Benitez, Trinidad Caldes, Anna Jakubowska, Jacques Simard, Christian F. Singer, Yen Tan, Edith Olah, Marie Navratilova, Lenka Foretova, Anne-Marie Gerdes, Marie-José Roos-Blom, Flora E. Van Leeuwen, Brita Arver, Håkan Olsson, Rita K. Schmutzler, Christoph Engel, Karin Kast, Kelly-Anne Phillips, Mary Beth Terry, Roger L. Milne, David E. Goldgar, Matti A. Rookus, Nadine Andrieu, Douglas F. Easton, on behalf of IBCCS, kConFab and BCFR
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-3 (2020)
After publication of the original article [1], we were notified that columns in Table 2 were erroneously displayed.
Externí odkaz:
https://doaj.org/article/209bfc06acbe40aca02aa85e0b80b7ca
Autor:
Marion Imbert‐Bouteille, Marion Gauthier‐Villars, Dominique Leroux, Isabelle Meunier, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Sophie Lejeune, Capucine Delnatte, Caroline Abadie, Pascal Pujol, Claude Houdayer, Carole Corsini
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low‐penetrance variants are also known
Externí odkaz:
https://doaj.org/article/6ef236193ee4411a8cecb491cfe6ec97
Autor:
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d’Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, CoF-AT, GENESIS, kConFab, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
Publikováno v:
Breast Cancer Research, Vol 20, Iss 1, Pp 1-18 (2018)
Abstract Background The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo geneti
Externí odkaz:
https://doaj.org/article/b1d561356ed34398951c09ca8284ba31
Autor:
Nadine Andrieu, Christine Lasset, Julie Tinat, Chrystelle Colas, Christine M. Maugard, Laurence Venat-Bouvet, Dominique Leroux, Elisabeth Luporsi, Alain Lortholary, Laurence Gladieff, Véronique Mari, François Eisinger, Paul Gesta, Laurence Faivre, Pascal Pujol, Isabelle Coupier, Olivier Caron, Pascaline Berthet, Jean-Pierre Fricker, Valérie Bonadona, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Emmanuelle Mouret-Fourme, Catherine Noguès, Julie Lecarpentier
Supplementary Figure 1: Representation of BRCA1 and BRCA2 major functional and risk domains (location of codons)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e3d0b18c561dd3210c9389e8495be4b
https://doi.org/10.1158/1055-9965.22436737.v1
https://doi.org/10.1158/1055-9965.22436737.v1
Autor:
Nadine Andrieu, Christine Lasset, Julie Tinat, Chrystelle Colas, Christine M. Maugard, Laurence Venat-Bouvet, Dominique Leroux, Elisabeth Luporsi, Alain Lortholary, Laurence Gladieff, Véronique Mari, François Eisinger, Paul Gesta, Laurence Faivre, Pascal Pujol, Isabelle Coupier, Olivier Caron, Pascaline Berthet, Jean-Pierre Fricker, Valérie Bonadona, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Emmanuelle Mouret-Fourme, Catherine Noguès, Julie Lecarpentier
Background: Mutations in BRCA1/2 confer a high risk of breast cancer, but literature values of this risk vary. A genotype–phenotype correlation has been found in both genes, and the effect of reproductive factors differs according to mutation locat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04df1be70882ca501785ef59a4faac44
https://doi.org/10.1158/1055-9965.c.6515560.v1
https://doi.org/10.1158/1055-9965.c.6515560.v1
Autor:
Olivier Delattre, Gaëlle Pierron, Marion Gauthier-Villars, Isabelle Coupier, Véronique Mosseri, Valeria Capra, Joan Carles Ferreres Pinas, D. Gareth Evans, Stéphanie Puget, Georges Audry, Dominique Figarella-Branger, Dominique Ranchere, Paul Fréneaux, Xavier Rialland, Christophe Bergeron, Daniel Orbach, Odile Oberlin, Yves Pérel, Jean-Louis Stephan, Nicolas André, François Doz, Christelle Dufour, Stéphanie Reynaud, Laurence Brugières, Delphine Lequin, Franck Bourdeaut
Supplementary Figure S1; Supplementary Table S1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dc290443db580677737b3fb6d7ac13f
https://doi.org/10.1158/1078-0432.22443042
https://doi.org/10.1158/1078-0432.22443042