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1دورية أكاديمية
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
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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 -
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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
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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 -
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المؤلفون: Laurent Castera, Antoine De Pauw, Florence Polycarpe, Khadija Abidallah, Dominique Vaur, Julien Tarabeux, Dominique Stoppa-Lyonnet, Claude Houdayer, Marick Laé, Marc-Henri Stern, Lisa Golmard, Bruno Buecher, Pascaline Berthet, Marion Gauthier-Villars, Henrique Tenreiro, Sophie Krieger, Caroline Abadie, Gaël A. Millot, Anthony Laugé, André Nicolas, Virginie Moncoutier, Thierry Frebourg, Camille Elan
المساهمون: Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Dynamique de l'information génétique : bases fondamentales et cancer (DIG CANCER), Centre National de la Recherche Scientifique (CNRS)-Institut Curie [Paris]-Sorbonne Université (SU), CHU Pontchaillou [Rennes], Normandie, Université, Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Institut Curie [Paris]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (12), pp.1345-1353. ⟨10.1038/s41431-017-0021-2⟩
European Journal of Human Genetics, 2017, 25 (12), pp.1345-1353. ⟨10.1038/s41431-017-0021-2⟩مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, medicine.medical_specialty, RAD51, Breast Neoplasms, Germline, Article, [SDU] Sciences of the Universe [physics], XRCC2, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, XRCC3, Internal medicine, Genetics, Medicine, Humans, Gene, Genetics (clinical), Germ-Line Mutation, Aged, Ovarian Neoplasms, business.industry, Middle Aged, medicine.disease, 3. Good health, DNA-Binding Proteins, 030104 developmental biology, [SDU]Sciences of the Universe [physics], 030220 oncology & carcinogenesis, RAD51C, Female, Rad51 Recombinase, business, Ovarian cancer
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المؤلفون: V Guibert, Henrique Tenreiro, Dominique Stoppa-Lyonnet, Anthony Laugé, Stéphane Bézieau, Marion Gauthier-Villars, Adrien Briaux, A. De Pauw, Khadija Abidallah, Etienne Rouleau, Bruno Buecher, Claude Houdayer, Cédrick Lefol, Lisa Golmard, Capucine Delnatte, Paul Gesta, Virginie Moncoutier, Julien Tarabeux, Agnès Collet, Sandrine M. Caputo, Catherine Barbaroux, G Amorim, F Copigny, M Giraudeau, Christophe Guy, O Ingster, M-H Stern
المصدر: Oncogene. 35:1324-1327
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, endocrine system diseases, Genetic counseling, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, BRCA2 Mutation, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Molecular Biology, Gene, Ovarian Neoplasms, De novo mutation, Middle Aged, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), Female, Ovarian cancer
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المؤلفون: Quentin Leroy, Julien Tarabeux, Bruno Zeitouni, Dominique Stoppa-Lyonnet, Thomas Rio-Frio, Khadija Abidallah, Lisa Golmard, Marc-Henri Stern, Virginie Moncoutier, Henrique Tenreiro, Etienne Rouleau, Claude Houdayer, Emmanuel Barillot, Séverine Lair, Patricia Legoix-Né
مصطلحات موضوعية: Pipeline (computing), Context (language use), Breast Neoplasms, Computational biology, Biology, Turnaround time, Sensitivity and Specificity, Article, symbols.namesake, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Genetic testing, Sequence Deletion, Sanger sequencing, BRCA2 Protein, Gene Rearrangement, Ovarian Neoplasms, medicine.diagnostic_test, BRCA1 Protein, Computational Biology, High-Throughput Nucleotide Sequencing, Ion semiconductor sequencing, Gene rearrangement, Sequence Analysis, DNA, symbols, Female, Software, Blood sampling
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287232725b53b33e114cb985d3e71306
https://europepmc.org/articles/PMC3953907/