Rezultaty - Tubeuf, Hélène

Identification of genetic variants for clinical management of familial colorectal tumors od Dominguez-Valentin, Mev, Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Martins, Alexandra, Møller, Pål, Hovig, Eivind

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Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds od Dominguez-Valentin, Mev, Evans, D. Gareth R., Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Martins, Alexandra, Møller, Pål, Hovig, Eivind

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Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons od Harding, Brian N., Moccia, Amanda, Drunat, Séverine, Soukarieh, Omar, Tubeuf, Hélène, Chitty, Lyn S., Verloes, Alain, Gressens, Pierre, El Ghouzzi, Vincent, Joriot, Sylvie, Di Cunto, Ferdinando, Martins, Alexandra, Passemard, Sandrine, Bielas, Stephanie L.

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Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants od Gaildrat, Pascaline, Lebbah, Said, Tebani, Abdellah, Sudrié‐Arnaud, Bénédicte, Tostivint, Isabelle, Bollee, Guillaume, Tubeuf, Hélène, Charles, Thomas, Bertholet‐Thomas, Aurelia, Goldenberg, Alice, Barbey, Frederic, Martins, Alexandra, Saugier‐Veber, Pascale, Frébourg, Thierry, Knebelmann, Bertrand, Bekri, Soumeya

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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing od Dominguez-Valentin, Mev, Nakken, Sigve, Tubeuf, Hélène, Vodak, Daniel, Ekstrøm, Per Olaf, Nissen, Anke M., Morak, Monika, Holinski-Feder, Elke, Holth, Arild, Capella, Gabriel, Davidson, Ben, Evans, D. Gareth, Martins, Alexandra, Møller, Pål, Hovig, Eivind

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Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants od Leman, Raphaël, Tubeuf, Hélène, Raad, Sabine, Tournier, Isabelle, Derambure, Céline, Lanos, Raphaël, Gaildrat, Pascaline, Castelain, Gaia, Hauchard, Julie, Killian, Audrey, Baert-Desurmont, Stéphanie, Legros, Angelina, Goardon, Nicolas, Quesnelle, Céline, Ricou, Agathe, Castera, Laurent, Vaur, Dominique, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Boutry-Kryza, Nadia, Schultz, Inès, Caux-Moncoutier, Virginie, Rossing, Maria, Walker, Logan C., Spurdle, Amanda B., Houdayer, Claude, Martins, Alexandra, Krieger, Sophie

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Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer od Caputo, Sandrine M., Léone, Mélanie, Damiola, Francesca, Ehlen, Asa, Carreira, Aura, Gaidrat, Pascaline, Martins, Alexandra, Brandão, Rita D., Peixoto, Ana, Vega, Ana, Houdayer, Claude, Delnatte, Capucine, Bronner, Myriam, Muller, Danièle, Castera, Laurent, Guillaud-Bataille, Marine, Søkilde, Inge, Uhrhammer, Nancy, Demontety, Sophie, Tubeuf, Hélène, Castelain, Gaïa, Jensen, Uffe Birk, Petitalot, Ambre, Krieger, Sophie, Lefol, Cédrick, Moncoutier, Virginie, Boutry-Kryza, Nadia, Nielsen, Henriette Roed, Sinilnikova, Olga, Stoppa-Lyonnet, Dominique, Spurdle, Amanda B., Teixeira, Manuel R., Coulet, Florence, Thomassen, Mads, Rouleau, Etienne

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Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system od Tubeuf, Hélène, Caputo, Sandrine M., Sullivan, Teresa, Rondeaux, Julie, Krieger, Sophie, Caux-Moncoutier, Virginie, Hauchard, Julie, Castelain, Gaia, Fiévet, Alice, Meulemans, Laëtitia, Révillion, Françoise, Léoné, Mélanie, Boutry-Kryza, Nadia, Delnatte, Capucine, Guillaud-Bataille, Marine, Cleveland, Linda, Reid, Susan, Southon, Eileen, Soukarieh, Omar, Drouet, Aurélie, Giacomo, Daniela Di, Vezain, Myriam, Bonnet-Dorion, Françoise, Bourdon, Violaine, Larbre, Hélène, Muller, Danièle, Pujol, Pascal, Vaz, Fátima, Audebert-Bellanger, Séverine, Colas, Chrystelle, Venat-Bouvet, Laurence, Solano, Angela R., Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Gaildrat, Pascaline, Sharan, Shyam K, Martins, Alexandra

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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America od Rossi, Benedito Mauro, Palmero, Edenir Inêz, López-Kostner, Francisco, Sarroca, Carlos, Vaccaro, Carlos Alberto, Spirandelli, Florencia, Ashton-Prolla, Patricia, Rodriguez, Yenni, de Campos Reis Galvão, Henrique, Reis, Rui Manuel, Escremim de Paula, André, Capochin Romagnolo, Luis Gustavo, Alvarez, Karin, Della Valle, Adriana, Neffa, Florencia, Kalfayan, Pablo German, Spirandelli, Enrique, Chialina, Sergio, Gutiérrez Angulo, Melva, Castro-Mujica, Maria del Carmen, Sanchez de Monte, Julio, Quispe, Richard, da Silva, Sabrina Daniela, Rossi, Norma Teresa, Barletta-Carrillo, Claudia, Revollo, Susana, Taborga, Ximena, Morillas, L. Lena, Tubeuf, Hélène, Monteiro-Santos, Erika Maria, Piñero, Tamara Alejandra, Dominguez-Barrera, Constantino, Wernhoff, Patrik, Martins, Alexandra, Hovig, Eivind, Møller, Pål, Dominguez-Valentin, Mev

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