المؤلفون: Mathias Schwartz, Sabrina Ibadioune, Sophie Vacher, Marie-Charlotte Villy, Olfa Trabelsi-Grati, Jessica Le Gall, Sandrine M. Caputo, Hélène Delhomelle, Mathilde Warcoin, Virginie Moncoutier, Christine Bourneix, Nadia Boutry-Kryza, Antoine De Pauw, Marc-Henri Stern, Bruno Buecher, Emmanuelle Mouret-Fourme, Chrystelle Colas, Dominique Stoppa-Lyonnet, Julien Masliah-Planchon, Lisa Golmard, Ivan Bieche

المصدر: Breast, Vol 73, Iss , Pp 103620- (2024)

مصطلحات موضوعية: HBOC syndrome, Breast neoplasm, Genetic testing, Homologous recombination, DNA methylation, Epigenomics, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0960977623007464; https://doaj.org/toc/1532-3080

URL الوصول: https://doaj.org/article/26c803158b324842ba32dcea78dd92a6

المؤلفون: Sandrine M. Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Françoise Bonnet, Violaine Bourdon, Florence Coulet, Laurent Castera, Capucine Delnatte, Agnès Hardouin, Sylvie Mazoyer, Inès Schultz, Nicolas Sevenet, Nancy Uhrhammer, Céline Bonnet, Anne-Françoise Tilkin-Mariamé, Claude Houdayer, Virginie Moncoutier, Catherine Andrieu, French COVAR Group Collaborators, Ivan Bièche, Marc-Henri Stern, Dominique Stoppa-Lyonnet, Rosette Lidereau, Christine Toulas, Etienne Rouleau

المصدر: Cancers, Vol 13, Iss 13, p 3171 (2021)

مصطلحات موضوعية: large genomic rearrangement, BRCA1 gene, large duplication, triplication, variant of unknown significance, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/13/13/3171; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/69f54c8c0ec1496b9442ff90346e2b46

المؤلفون: Agnès Collet, Julien Tarabeux, Elodie Girard, Catherine Dubois DEnghien, Lisa Golmard, Vivien Deshaies, Alban Lermine, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Florence Copigny, Catherine Dehainault, Henrique Tenreiro, Christophe Guy, Khadija Abidallah, Catherine Barbaroux, Etienne Rouleau, Nicolas Servant, Antoine De Pauw, Dominique Stoppa-Lyonnet, Claude Houdayer

المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)

مصطلحات موضوعية: HaloPlex, cancer, predisposition, genetic diagnosis, next generation sequencing, gene panel, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.aimspress.com/Genetics/article/558/fulltext.html; https://doaj.org/toc/2377-1143

URL الوصول: https://doaj.org/article/591a498b3eab416195ca9d1d0e38505d

المؤلفون: Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru A Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmaña, Alicia Barroso, Javier Benítez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Åke Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura Cortesi, Esther Darder, Jesús Del Valle, Orland Diez, ENIGMA Consortium, Séverine Eon-Marchais, Florentia Fostira, GENESIS Study Collaborators, Francesca Gensini, Claude Houdayer, Marketa Janatova, Johanna I Kiiski, Irene Konstantopoulou, Katerina Kubelka-Sabit, Conxi Lázaro, Fabienne Lesueur, Siranoush Manoukian, Ruta Marcinkute, Ugnius Mickys, Virginie Moncoutier, SWE-BRCA Group, Aleksander Myszka, Tu Nguyen-Dumont, Finn Cilius Nielsen, Rimvydas Norvilas, Edith Olah, Ana Osorio, Laura Papi, Bernard Peissel, Ana Peixoto, Dijana Plaseska-Karanfilska, Timea Pócza, Maria Rossing, Vilius Rudaitis, Marta Santamariña, Catarina Santos, Snezhana Smichkoska, Melissa C Southey, Dominique Stoppa-Lyonnet, Manuel Teixeira, Therese Törngren, Angela Toss, Miguel Urioste, Ana Vega, Zdenka Vlckova, Drakoulis Yannoukakos, Valentina Zampiga, Zdenek Kleibl, Paolo Radice, Heli Nevanlinna, Hans Ehrencrona, Ramunas Janavicius, Paolo Peterlongo

المصدر: Cancers, Vol 12, Iss 2, p 292 (2020)

مصطلحات موضوعية: breast cancer predisposition, breast cancer risk factors, fancm truncating variants, mutation spectrum, ptvs, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6694/12/2/292; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/07ddb4373ae84811a8d691deec9dbbd6

المؤلفون: Roseline Vibert, Jessica Le Gall, Bruno Buecher, Emmanuelle Mouret-Fourme, Guillaume Bataillon, Véronique Becette, Olfa Trabelsi-Grati, Virginie Moncoutier, Catherine Dehainault, Jennifer Carriere, Mathias Schwartz, Voreak Suybeng, Ivan Bieche, Chrystelle Colas, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Lisa Golmard

المصدر: Journal of Medical Genetics. 60:460-463

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d21c76f975e9ed02a26800b75dc505e0
https://doi.org/10.1136/jmg-2022-108467

المؤلفون: Mathias Schwartz, Virginie Moncoutier, Adrien Peytral, Jessica Le Gall, Voreak Suybeng, Mélanie Pagès, Julien Masliah‐Planchon, Olfa Trabelsi‐Grati, Samia Melaabi, Céline Callens, Ivan Bièche, Hélène Delhomelle, Antoine De Pauw, Claire Saule, Emmanuelle Mouret‐Fourme, Marion Gauthier‐Villars, Bruno Buecher, Chrystelle Colas, Dominique Stoppa‐Lyonnet, Lisa Golmard

المصدر: Clinical Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b16e16015053dd804c7e0a2808abf553
https://doi.org/10.1111/cge.14327

المؤلفون: Etienne Rouleau, Agnès Hardouin, Claude Houdayer, Maurizio Ceppi, Florence Coulet, Christine Toulas, Laurent Castera, Violaine Bourdon, Dominique Stoppa-Lyonnet, Inès Schultz, Virginie Moncoutier, Anne-Françoise Tilkin-Mariamé, Sandrine M. Caputo, Ivan Bièche, Céline Bonnet, Julie Sesen, Françoise Bonnet, Dominique Telly, Adrien Briaux, Capucine Delnatte, Catherine Andrieu, Rosette Lidereau, Nicolas Sevenet, Sylvie Mazoyer, Nancy Uhrhammer, Marc-Henri Stern

المصدر: Cancers
Volume 13
Issue 13
Cancers, Vol 13, Iss 3171, p 3171 (2021)

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Biology, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Gene duplication, large duplication, Gene, RC254-282, Segmental duplication, Genetics, Sanger sequencing, Breakpoint, large genomic rearrangement, Intron, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, variant of unknown significance, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, symbols, BRCA1 gene, triplication, Comparative genomic hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45bc4b52269a25669c0c4ff0a33255a7

المؤلفون: Marie-Noëlle Bonnet-Dupeyron, Helene Dreyfus, Nadia Boutry-Kryza, Cornel Popovici, Laurent Castera, Nancy Uhrhammer, Anthony Laugé, Yves-Jean Bignon, Hélène Delhomelle, Alice Fiévet, Christophe Guy, Noémie Bronnec, Bruno Buecher, Fabienne Prieur, Sophie Demontety, Vincent Goussot, Emmanuelle Mouret-Fourme, Claire Saule, Helene Zattara, Sarah Malsa, Paul Gesta, Cindy Meira, Erell Guillerm, Isabelle Turbiez, Agathe Ricou, Mélanie Léoné, Pierre Vande Perre, Sarab Lizard, Pascaline Berthet, Norbert Lignon, Adrien Buisson, Anne-Marie Birot, Philippe Denizeau, Etienne Rouleau, Odile Cohen-Haguenauer, Veronica Goldbarg, Virginie Moncoutier, Charlotte Benigni, Emmanuelle Barouk-Simonet, Flavie Boulouard, Caroline Jacquot-Sawka, Alice Yvard, Hakima Lallaoui, Veronica Cusin, Angélina Legros, Muriel Belotti, Christine Maugard, Marine Guillaud-Bataille, Jean-Marc Limacher, Marion Gauthier-Villars, Louise Crivelli, Afane Brahimi, Odile Cabaret, Ophelie Bertrand, Michel Longy, Gabrielle Le Guyadec, Doriane Livon, Amelie Bloucard, Dominique Stoppa-Lyonnet, Capucine Delnatte, Caroline Lecerf, Jennifer Carriere, Virginie Guibert, Véronique Mari, Anne-Sophie Allary, Florence Coulet, Françoise Bonnet, Paul Vilquin, Noémie Basset, Khadija Abidallah, Pierre Macquere, Nicolas Derive, Manon Boulaire, Stephanie Chieze-Valéro, Marine Le Mentec, Mathilde Gay-Bellile, Anne-Laure Conoy, Henri Margot, Pierre Devulder, Mathias Schwartz, Isabelle Tennevet, Stéphane Bézieau, Francesca Damiola, Violaine Bourdon, Audrey Mailliez, Zoe Nevière, Nicolas Viellard, Laurence Venat, Antoine De Pauw, Brigitte Bressac-de Paillerets, Agnès Hardouin, Sofiane Lacoste, Sandra Fert-Ferrer, Maud Privat, Helene Larbre, Dominique Vaur, Etienne Muller, Françoise Revillion, Clémentine Legrand, Rosette Lidereau, Laurence Gladieff, Sabine Raad, Jean Chiesa, Diane Molière, Ahmed Bouras, Nicolas Sevenet, Patrick R. Benusiglio, Sophie Giraud, Christine Toulas, Voreak Suybeng, Florine Oca, Tetsuro Noguchi, Catherine Dehainault, Sophie Lejeune, Céline Heude, Catherine Dubois d’Enghein, Thien-vu Nguyen Minh Tuan, Olivier Caron, Mathilde Warcoin, Christine Lasset, Claude Houdayer, Jessica Moretta-Serra, Julie Tinat, Hagay Sobol, Natalie Jones, Fanny Brayotel, Anne Fajac, Virginie Bubien, Maud Blanluet, Jean-Marc Rey, Anne Durlach, Sandrine M. Caputo, Isabelle Coupier, Fatoumata Simaga, Sophie Krieger, Catherine Noguès, Fabrice Airaud, Robin Fouillet, Celine Garrec, Valérie Bonadona, Julie Menjard, Bérengère Legendre, Chrystelle Colas, Christelle Berthemin, Camille Cohen, Caroline Abadie, Olivier Ingster, Audrey Remenieras, Anaïs Dupré, Jessica Le Gall, Lisa Golmard, Marie Bidart, Henrique Tenreiro, J Bombled, Marie-Charlotte Villy, Marie-Agnès Collonge-Rame, Sophie Dussart, Alain Lortholary, Lucie Salle, Samira Fekairi

المساهمون: Service de Génétique Oncologique, Institut Curie [Paris], Université Paris sciences et lettres (PSL), Département de Biologie des Tumeurs, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Centre Léon Bérard [Lyon], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut Gustave Roussy (IGR), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Institut de biochimie et génétique cellulaires (IBGC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de Références Cancers Rares (PREDIR), INCA, Institut national du cancer [Boulogne] (INCA), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), Centre Hospitalier Universitaire de Reims (CHU Reims), dormoy, valerian, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]

المصدر: Am J Hum Genet
American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (10), pp.1907-1923. ⟨10.1016/j.ajhg.2021.09.003⟩

مصطلحات موضوعية: Cosegregation, Genotype, [SDV]Life Sciences [q-bio], Breast Neoplasms, Biology, Article, 03 medical and health sciences, Likely benign, Genetics, medicine, Humans, Clinical significance, Genetic Predisposition to Disease, Genetic Testing, Uncertain significance, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, BRCA2 Protein, Ovarian Neoplasms, 0303 health sciences, Cancer predisposition, BRCA1 Protein, 030305 genetics & heredity, Cancer, Genetic Variation, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Classification methods, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dafdf5194001f759e2968c0631e77f95
https://pubmed.ncbi.nlm.nih.gov/34597585

المؤلفون: Khadija Abidallah, Felipe Suarez, Emmanuelle Ginglinger, Bertrand Degos, Céline Bellesme, Jean‐Paul Carriere, Nizar Mahlaoui, Guillaume Rieunier, Dorine Bellanger, Patrick Calvas, Olivier Flabeau, Dominique Stoppa-Lyonnet, Christelle Rougeot, Diane Doummar, Noel Philippe, Nathalie Auger, Virginie Moncoutier, Michèle Mathieu-Dramard, Christine Ioos, Anna Castrioto, Marie Hully, Béatrice Parfait, François Tison, Agnès Collet, Marie-Christine Nougues, Catherine Dubois d'Enghien, Alice Masurel, Karine Dahan, Thilo Dörk, Hélène Antoine-Poirel, Cecilia Altuzarra, François Demeocq, Alice Fiévet, Pierre Bordigoni, Nathalie Aladjidi, Claire Ewenczyk, Aurélie Siri, Karine Nguyen, Mathieu Anheim, Fabienne Prieur, Marc-Henri Stern, Caroline Bourjault, Fabien Touzot, Julia Sophie, Fanny Couderc, Agathe Roubertie

المصدر: Human mutation. 40(10)

مصطلحات موضوعية: Genotype, DNA Mutational Analysis, Disease, Ataxia Telangiectasia Mutated Proteins, Biology, medicine.disease_cause, Cell Line, 03 medical and health sciences, Ataxia Telangiectasia, Immune system, Genetics, medicine, Humans, splice, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Kinase, 030305 genetics & heredity, Cell Cycle, Genetic Variation, Subcellular localization, medicine.disease, Phenotype, Alternative Splicing, Ataxia-telangiectasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::169d2867167544410434395ec2c71015
https://pubmed.ncbi.nlm.nih.gov/31050087

المؤلفون: Anthony Laugé, Vivien Deshaies, Catherine Dubois d'Enghien, Lisa Golmard, Agnès Collet, Catherine Barbaroux, Claude Houdayer, Nicolas Servant, Virginie Moncoutier, Etienne Rouleau, Alban Lermine, Cédrick Lefol, Catherine Dehainault, Florence Copigny, Julien Tarabeux, Dominique Stoppa-Lyonnet, Henrique Tenreiro, Antoine De Pauw, Khadija Abidallah, Christophe Guy, Elodie Girard

المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)

مصطلحات موضوعية: lcsh:QH426-470, Pseudogene, Biology, DNA sequencing, genetic diagnosis, 03 medical and health sciences, 0302 clinical medicine, gene panel, Gene panel, medicine, cancer, Indel, 030304 developmental biology, next generation sequencing, Genetics, 0303 health sciences, Point mutation, Cancer, General Medicine, medicine.disease, lcsh:Genetics, predisposition, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), HaloPlex, Genetic diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a12076f3d586dee6dfc953635d70a8d
https://doi.org/10.3934/genet.2015.4.263