BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated

por Küry, Sébastien, Airaud, Fabrice, Piloquet, Philippe, Bézieau, Stéphane
Publicado 2010

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

por Vincent, Marie, Benbrik, Nadir, Romefort, Bénédicte, Colombel, Agnès, Bézieau, Stéphane, Isidor, Bertrand
Publicado 2017

Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

por Geay, Antoine, Aral, Bernard, Bourgeois, Valentin, Martin, Pauline, Airaud, Fabrice, Garrec, Céline, Bézieau, Stéphane, Gardie, Betty, Girodon, François
Publicado 2020

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

por Bonneau, Valérie, Nizon, Mathilde, Latypova, Xenia, Gaultier, Aurélie, Hoarau, Eugénie, Bézieau, Stéphane, Minguet, Guy, Turrini, Mauro, Jourdain, Maud, Isidor, Bertrand
Publicado 2021

MEM: An Algorithm for the Reliable Detection of Microsatellite Instability (MSI) on a Small NGS Panel in Colorectal Cancer

por Herbreteau, Guillaume, Airaud, Fabrice, Pierre-Noël, Elise, Vallée, Audrey, Bézieau, Stéphane, Théoleyre, Sandrine, Blons, Hélène, Garinet, Simon, Denis, Marc Guillaume
Publicado 2021

Differential Roles of Hath1, MUC2 and P27Kip1 in Relation with Gamma-Secretase Inhibition in Human Colonic Carcinomas: A Translational Study

por Souazé, Frédérique, Bou-Hanna, Chantal, Kandel, Christine, Leclair, François, Devallière, Julie, Charreau, Béatrice, Bézieau, Stéphane, Mosnier, Jean-François, Laboisse, Christian L.
Publicado 2013

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

por Maaziz, Nada, Garrec, Céline, Airaud, Fabrice, Bobée, Victor, Contentin, Nathalie, Cayssials, Emilie, Rimbert, Antoine, Aral, Bernard, Bézieau, Stéphane, Gardie, Betty, Girodon, François
Publicado 2023

Genetic variations of the A13/A14 repeat located within the EGFR 3′ untranslated region have no oncogenic effect in patients with colorectal cancer

por Sarafan-Vasseur, Nasrin, Sefrioui, David, Tougeron, David, Lamy, Aude, Blanchard, France, Le Pessot, Florence, Di Fiore, Frédéric, Michel, Pierre, Bézieau, Stéphane, Latouche, Jean-Baptiste, Frebourg, Thierry, Sesboüé, Richard
Publicado 2013

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

por Küry, Sébastien, Buecher, Bruno, Robiou-du-Pont, Sébastien, Scoul, Catherine, Colman, Hélène, Le Neel, Tanguy, Le Houérou, Claire, Faroux, Roger, Ollivry, Jean, Lafraise, Bernard, Chupin, Louis-Dominique, Sébille, Véronique, Bézieau, Stéphane
Publicado 2008

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples

por Badoer, Cindy, Garrec, Céline, Goossens, Dirk, Ellison, Gillian, Mills, John, Dzial, Mélina, Housni, Hakim El, Berwouts, Sarah, Concolino, Paola, Guevellou, Virginie Guibert-Le, Delnatte, Capucine, Favero, Jurgen Del, Capoluongo, Ettore, Bézieau, Stéphane
Publicado 2016

High-Density of FcγRIIIA(+) (CD16(+)) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independen...

por Denis Musquer, Marie, Jouand, Nicolas, Pere, Morgane, Lamer, Juliette Eugène, Bézieau, Stéphane, Matysiak, Tamara, Faroux, Roger, Caroli Bosc, François-Xavier, Rousselet, Marie-Christine, Leclair, François, Mosnier, Jean-François, Toquet, Claire, Gervois, Nadine, Bossard, Céline
Publicado 2021

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture

por Veyradier, Agnès, Boisseau, Pierre, Fressinaud, Edith, Caron, Claudine, Ternisien, Catherine, Giraud, Mathilde, Zawadzki, Christophe, Trossaert, Marc, Itzhar-Baïkian, Nathalie, Dreyfus, Marie, d’Oiron, Roseline, Borel-Derlon, Annie, Susen, Sophie, Bezieau, Stéphane, Denis, Cécile V., Goudemand, Jenny
Publicado 2016

The density of Tbet+ tumor-infiltrating T lymphocytes reflects an effective and druggable preexisting adaptive antitumor immune response in colorectal cancer, irrespective of the m...

por Ott, Eva, Bilonda, Linda, Dansette, Delphine, Deleine, Cécile, Duchalais, Emilie, Podevin, Juliette, Volteau, Christelle, Bennouna, Jaafar, Touchefeu, Yann, Fourquier, Pierre, El Alami Thomas, Wassila, Chetritt, Jérome, Bezieau, Stéphane, Denis, Marc, Toquet, Claire, Mosnier, Jean-François, Jarry, Anne, Bossard, Céline
Publicado 2019

A dominant vimentin variant causes a rare syndrome with premature aging

por Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand
Publicado 2020

Identification of shared genetic variants between schizophrenia and lung cancer

por Zuber, Verena, Jönsson, Erik G., Frei, Oleksandr, Witoelar, Aree, Thompson, Wesley K., Schork, Andrew J., Bettella, Francesco, Wang, Yunpeng, Djurovic, Srdjan, Smeland, Olav B., Dieset, Ingrid, Fanous, Ayman H., Desikan, Rahul S., Küry, Sébastien, Bézieau, Stéphane, Dale, Anders M., Mills, Ian G., Andreassen, Ole A.
Publicado 2018

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

por Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien
Publicado 2022

Leptin gene variants and colorectal cancer risk: Sex-specific associations

por Chun, Kelsey A., Kocarnik, Jonathan M., Hardikar, Sheetal S., Robinson, Jamaica R., Berndt, Sonja I., Chan, Andrew T., Figueiredo, Jane C., Lindor, Noralane M., Song, Mingyang, Schoen, Robert E., Hayes, Richard B., Potter, John D., Nassir, Rami, Bézieau, Stéphane, Le Marchand, Loic, Slattery, Martha L., White, Emily, Peters, Ulrike, Newcomb, Polly A.
Publicado 2018

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

por Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Publicado 2019

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

por Nizon, Mathilde, Laugel, Vincent, Flanigan, Kevin M., Pastore, Matthew, Waldrop, Megan A., Rosenfeld, Jill A., Marom, Ronit, Xiao, Rui, Gerard, Amanda, Pichon, Olivier, Caignec, Cédric Le, Gérard, Marion, Dieterich, Klaus, Cho, Megan Truitt, McWalter, Kirsty, Hiatt, Susan, Thompson, Michelle L., Bézieau, Stéphane, Wadley, Alexandrea, Wierenga, Klaas J., Egly, Jean-Marc, Isidor, Bertrand
Publicado 2019

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

por Karaghiannis, Valéna, Maric, Darko, Garrec, Céline, Maaziz, Nada, Buffet, Alexandre, Schmitt, Loïc, Antunes, Vincent, Airaud, Fabrice, Aral, Bernard, Le Roy, Amandine, Corbineau, Sébastien, Mansour-Hendili, Lamisse, Lesieur, Valentine, Rimbert, Antoine, Laporte, Fabien, Delamare, Marine, Rab, Minke, Bézieau, Stéphane, Cassinat, Bruno, Galacteros, Frédéric, Gimenez-Roqueplo, Anne-Paule, Burnichon, Nelly, Cario, Holger, van Wijk, Richard, Bento, Celeste, Girodon, François, Hoogewijs, David, Gardie, Betty
Publicado 2023