When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

por Hureaux, Marguerite, Chantot-Bastaraud, Sandra, Cassinari, Kévin, Martinez Casado, Edouard, Cuny, Ariane, Frébourg, Thierry, Vargas-Poussou, Rosa, Bréhin, Anne-Claire
Publicado 2021

Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging

por Dabaj, Ivana, Ferey, Justine, Marguet, Florent, Gilard, Vianney, Basset, Carole, Bahri, Youssef, Brehin, Anne-Claire, Vanhulle, Catherine, Leturcq, France, Marret, Stéphane, Laquerrière, Annie, Schmitz-Afonso, Isabelle, Afonso, Carlos, Bekri, Soumeya, Tebani, Abdellah
Publicado 2021

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

por Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, Albuisson, Juliette
Publicado 2021

Genome Microevolution of Chikungunya Viruses Causing the Indian Ocean Outbreak

por Schuffenecker, Isabelle, Iteman, Isabelle, Michault, Alain, Murri, Séverine, Frangeul, Lionel, Vaney, Marie-Christine, Lavenir, Rachel, Pardigon, Nathalie, Reynes, Jean-Marc, Pettinelli, François, Biscornet, Leon, Diancourt, Laure, Michel, Stéphanie, Duquerroy, Stéphane, Guigon, Ghislaine, Frenkiel, Marie-Pascale, Bréhin, Anne-Claire, Cubito, Nadège, Desprès, Philippe, Kunst, Frank, Rey, Félix A, Zeller, Hervé, Brisse, Sylvain
Publicado 2006

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

por Husson, Thomas, Lecoquierre, François, Cassinari, Kevin, Charbonnier, Camille, Quenez, Olivier, Goldenberg, Alice, Guerrot, Anne-Marie, Richard, Anne-Claire, Drouin-Garraud, Valérie, Brehin, Anne-Claire, Soleimani, Maryam, Taton, Romain, Rotharmel, Maud, Rosier, Antoine, Chambon, Pascal, Le Meur, Nathalie, Joly-Helas, Géraldine, Saugier-Veber, Pascale, Boland, Anne, Deleuze, Jean-François, Olaso, Robert, Frebourg, Thierry, Nicolas, Gael, Guillin, Olivier, Campion, Dominique
Publicado 2020

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

por Bordet, Céline, Brice, Sandrine, Maupain, Carole, Gandjbakhch, Estelle, Isidor, Bertrand, Palmyre, Aurélien, Moerman, Alexandre, Toutain, Annick, Akloul, Linda, Brehin, Anne-Claire, Sawka, Caroline, Rooryck, Caroline, Schaefer, Elise, Nguyen, Karine, Dupin Deguine, Delphine, Rouzier, Cécile, Billy, Gipsy, Séné, Krystelle, Denjoy, Isabelle, Leheup, Bruno, Planes, Marc, Mazzella, Jean-Michael, Staraci, Stéphanie, Hebert, Mélanie, Le Boette, Elsa, Michon, Claire-Cécile, Babonneau, Marie-Lise, Curjol, Angélique, Bekhechi, Amine, Mansouri, Rafik, Raji, Ibticem, Pruny, Jean-François, Fressart, Véronique, Ader, Flavie, Richard, Pascale, Tezenas du Montcel, Sophie, Gargiulo, Marcela, Charron, Philippe
Publicado 2020

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

por Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F., Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2023