检索结果 - Golmard, Lisa

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon 由 Jalkh, Nadine, Nassar-Slaba, Jinane, Chouery, Eliane, Salem, Nabiha, Uhrchammer, Nancy, Golmard, Lisa, Stoppa-Lyonnet, Domique, Bignon, Yves-Jean, Mégarbané, André

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EPID-04. PREDCAP, the French registry of predisposition to pediatric cancers 由 Guerrini-Rousseau, Lea, Hoarau, Pauline, Bougeard, Gaelle, Golmard, Lisa, Colas, Chrystelle, Gauthier-Villars, Marion, Houdayer, Claude, Frebourg, Thierry, Bourdeaut, Franck, Brugieres, Laurence

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Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands 由 Gueguen, Lorraine, Delaval, Ronan, Blanluet, Maud, Sartelet, Hervé, Leou, Sylvie, Dubois d’Enghien, Catherine, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Testevuide, Pascale, Faguer, Stanislas

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Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study 由 Ferré, François Côme, Frank, Michael, Gogly, Bruno, Golmard, Lisa, Naveau, Adrien, Chérifi, Hafida, Emmerich, Joseph, Gaultier, Frédérick, Berdal, Ariane, Jeunemaitre, Xavier, Fournier, Benjamin P J

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Mosaicism and prenatal diagnosis options: insights from retinoblastoma 由 Dehainault, Catherine, Golmard, Lisa, Millot, Gaël A, Charpin, Agathe, Laugé, Anthony, Tarabeux, Julien, Aerts, Isabelle, Cassoux, Nathalie, Stoppa-Lyonnet, Dominique, Gauthier-Villars, Marion, Houdayer, Claude

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ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis 由 Fiévet, Alice, Bernard, Virginie, Tenreiro, Henrique, Dehainault, Catherine, Girard, Elodie, Deshaies, Vivien, Hupe, Philippe, Delattre, Olivier, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude

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Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic 由 Saghatchian, Mahasti, Abehsera, Marc, Yamgnane, Amina, Geyl, Caroline, Gauthier, Emilien, Hélin, Valérie, Bazire, Matéo, Villoing-Gaudé, Laure, Reyes, Cécile, Gentien, David, Golmard, Lisa, Stoppa-Lyonnet, Dominique

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Differential Kinase Activation in Peripheral Blood Mononuclear Cells from Non-Small-Cell Lung Cancer Patients Treated with Nivolumab 由 Noé, Gaëlle, Bellesoeur, Audrey, Golmard, Lisa, Thomas-Schoemann, Audrey, Boudou-Rouquette, Pascaline, Tiako Meyo, Manuela, Puszkiel, Alicja, Arrondeau, Jennifer, Alexandre, Jérome, Goldwasser, François, Blanchet, Benoit, Vidal, Michel

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Clinical and kinomic analysis identifies peripheral blood mononuclear cells as a potential pharmacodynamic biomarker in metastatic renal cell carcinoma patients treated with suniti... 由 Noé, Gaёlle, Bellesoeur, Audrey, Thomas-Schoemann, Audrey, Rangarajan, Savithri, Naji, Faris, Puszkiel, Alicja, Huillard, Olivier, Saidu, Nathaniel, Golmard, Lisa, Alexandre, Jerome, Goldwasser, Francois, Blanchet, Benoit, Vidal, Michel

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Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model 由 Tarabeux, Julien, Zeitouni, Bruno, Moncoutier, Virginie, Tenreiro, Henrique, Abidallah, Khadija, Lair, Séverine, Legoix-Né, Patricia, Leroy, Quentin, Rouleau, Etienne, Golmard, Lisa, Barillot, Emmanuel, Stern, Marc-Henri, Rio-Frio, Thomas, Stoppa-Lyonnet, Dominique, Houdayer, Claude

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The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome 由 Frank, Michael, Albuisson, Juliette, Ranque, Brigitte, Golmard, Lisa, Mazzella, Jean-Michael, Bal-Theoleyre, Laurence, Fauret, Anne-Laure, Mirault, Tristan, Denarié, Nicolas, Mousseaux, Elie, Boutouyrie, Pierre, Fiessinger, Jean-Noël, Emmerich, Joseph, Messas, Emmanuel, Jeunemaitre, Xavier

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Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma 由 Salviat, Flore, Gauthier-Villars, Marion, Carton, Matthieu, Cassoux, Nathalie, Lumbroso-Le Rouic, Livia, Dehainault, Catherine, Levy, Christine, Golmard, Lisa, Aerts, Isabelle, Doz, François, Bonnet-Serrano, Fidéline, Hayek, Stéphanie, Savignoni, Alexia, Stoppa-Lyonnet, Dominique, Houdayer, Claude

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A targeted genomic alteration analysis predicts survival of melanoma patients under BRAF inhibitors 由 Louveau, Baptiste, Delyon, Julie, De Moura, Coralie Reger, Battistella, Maxime, Jouenne, Fanelie, Golmard, Lisa, Sadoux, Aurelie, Podgorniak, Marie-Pierre, Chami, Ichrak, Marco, Oren, Caramel, Julie, Dalle, Stephane, Feugeas, Jean-Paul, Dumaz, Nicolas, Lebbe, Celeste, Mourah, Samia

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Germline mutation in the RAD51B gene confers predisposition to breast cancer 由 Golmard, Lisa, Caux-Moncoutier, Virginie, Davy, Grégoire, Al Ageeli, Essam, Poirot, Brigitte, Tirapo, Carole, Michaux, Dorothée, Barbaroux, Catherine, d’Enghien, Catherine Dubois, Nicolas, André, Castéra, Laurent, Sastre-Garau, Xavier, Stern, Marc-Henri, Houdayer, Claude, Stoppa-Lyonnet, Dominique

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Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial 由 Callens, Céline, Vaur, Dominique, Soubeyran, Isabelle, Rouleau, Etienne, Just, Pierre-Alexandre, Guillerm, Erell, Golmard, Lisa, Goardon, Nicolas, Sevenet, Nicolas, Cabaret, Odile, Harter, Philipp, Gonzalez-Martin, Antonio, Fujiwara, Keiichi, Cecere, Sabrina Chiara, Colombo, Nicoletta, Marth, Christian, Vergote, Ignace, Maenpaa, Johanna, Pujade-Lauraine, Eric, Ray-Coquard, Isabelle

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Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus 由 Harakalova, Magdalena, van der Smagt, Jasper, de Kovel, Carolien G F, van't Slot, Ruben, Poot, Martin, Nijman, Isaac J, Medic, Jelena, Joziasse, Irene, Deckers, Jaap, Roos-Hesselink, Jolien W, Wessels, Marja W, Baars, Hubert F, Weiss, Marjan M, Pals, Gerard, Golmard, Lisa, Jeunemaitre, Xavier, Lindhout, Dick, Cuppen, Edwin, Baas, Annette F

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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers 由 Golmard, Lisa, Castéra, Laurent, Krieger, Sophie, Moncoutier, Virginie, Abidallah, Khadija, Tenreiro, Henrique, Laugé, Anthony, Tarabeux, Julien, Millot, Gael A., Nicolas, André, Laé, Marick, Abadie, Caroline, Berthet, Pascaline, Polycarpe, Florence, Frébourg, Thierry, Elan, Camille, de Pauw, Antoine, Gauthier-Villars, Marion, Buecher, Bruno, Stern, Marc-Henri, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Houdayer, Claude

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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing 由 Lesueur, Fabienne, Eon-Marchais, Séverine, Bonnet-Boissinot, Sarah, Beauvallet, Juana, Dondon, Marie-Gabrielle, Golmard, Lisa, Rouleau, Etienne, Garrec, Céline, Martinez, Mathilde, Toulas, Christine, Nguyen, Tan Dat, Brayotel, Fanny, Crivelli, Louise, Maugard, Christine M., Bubien, Virginie, Sevenet, Nicolas, Gesta, Paul, Chieze-Valero, Stéphanie, Nambot, Sophie, Goussot, Vincent, Mari, Véronique, Popovici, Cornel, Prieur, Fabienne, Morin-Meschin, Marie-Emmanuelle, Tinat, Julie, Lortholary, Alain, Dreyfus, Hélène, Bidart, Marie, Collonge-Rame, Marie-Agnès, Mozelle-Nivoix, Monique, Gladieff, Laurence, Giraud, Sophie, Boutry-Kryza, Nadia, Chiesa, Jean, Denizeau, Philippe, Bignon, Yves-Jean, Uhrhammer, Nancy, Cohen-Haguenauer, Odile, Vilquin, Paul, Mailliez, Audrey, Coupier, Isabelle, Rey, Jean-Marc, Lacaze, Elodie, Béra, Odile, Colas, Chrystelle, Coulet, Florence, Delnatte, Capucine, Houdayer, Claude, Lasset, Christine, Lemonnier, Jérôme, Longy, Michel, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Vaur, Dominique, Andrieu, Nadine, Caron, Olivier

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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression 由 Liu, Jing, Ottaviani, Daniela, Sefta, Meriem, Desbrousses, Céline, Chapeaublanc, Elodie, Aschero, Rosario, Sirab, Nanor, Lubieniecki, Fabiana, Lamas, Gabriela, Tonon, Laurie, Dehainault, Catherine, Hua, Clément, Fréneaux, Paul, Reichman, Sacha, Karboul, Narjesse, Biton, Anne, Mirabal-Ortega, Liliana, Larcher, Magalie, Brulard, Céline, Arrufat, Sandrine, Nicolas, André, Elarouci, Nabila, Popova, Tatiana, Némati, Fariba, Decaudin, Didier, Gentien, David, Baulande, Sylvain, Mariani, Odette, Dufour, Florent, Guibert, Sylvain, Vallot, Céline, Rouic, Livia Lumbroso-Le, Matet, Alexandre, Desjardins, Laurence, Pascual-Pasto, Guillem, Suñol, Mariona, Catala-Mora, Jaume, Llano, Genoveva Correa, Couturier, Jérôme, Barillot, Emmanuel, Schaiquevich, Paula, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Golmard, Lisa, Houdayer, Claude, Brisse, Hervé, Bernard-Pierrot, Isabelle, Letouzé, Eric, Viari, Alain, Saule, Simon, Sastre-Garau, Xavier, Doz, François, Carcaboso, Angel M., Cassoux, Nathalie, Pouponnot, Celio, Goureau, Olivier, Chantada, Guillermo, de Reyniès, Aurélien, Aerts, Isabelle, Radvanyi, François

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Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D 由 Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, Dieter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S, LaDuca, Holly, Ramus, Susan J, Menon, Usha, Rosenthal, Adam N, Jacobs, Ian, Gayther, Simon A, Dicks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M, Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V O, Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D, Traficante, Nadia, Diez, Orland, Balmaña, Judith, Gruber, Stephen B, Chenevix-Trench, Georgia, Investigators, kConFab, Jensen, Allan, Kjær, Susanne K, Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J, Robson, Mark, Gronwald, Jacek, Domchek, Susan M, Culver, Julie O, de la Hoya, Miguel, Easton, Douglas F, Foulkes, William D, Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K, Pharoah, Paul D P, Antoniou, Antonis C

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