CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

por Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Publicado 2014

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

por Saugier-Veber, Pascale, Marguet, Florent, Lecoquierre, François, Adle-Biassette, Homa, Guimiot, Fabien, Cipriani, Sara, Patrier, Sophie, Brasseur-Daudruy, Marie, Goldenberg, Alice, Layet, Valérie, Capri, Yline, Gérard, Marion, Frébourg, Thierry, Laquerrière, Annie
Publicado 2017

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

por Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
Publicado 2013

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

por Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Publicado 2019

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

por Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T
Publicado 2018

Severe Phenotype in Patients with Large Deletions of NF1

por Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O., Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Pasmant, Eric
Publicado 2021

GENESIS: a French national resource to study the missing heritability of breast cancer

por Sinilnikova, Olga M., Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Damiola, Francesca, Barjhoux, Laure, Marcou, Morgane, Verny-Pierre, Carole, Sornin, Valérie, Toulemonde, Lucie, Beauvallet, Juana, Le Gal, Dorothée, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Dugast, Catherine, Gesta, Paul, Fricker, Jean-Pierre, Noguès, Catherine, Faivre, Laurence, Luporsi, Elisabeth, Berthet, Pascaline, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis, Claude, Venat-Bouvet, Laurence, Demange, Liliane, Dreyfus, Hélène, Frenay, Marc, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Chevrier, Annie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Colas, Chrystelle, Fert-Ferrer, Sandra, Penet, Clotilde, Frebourg, Thierry, Collonge-Rame, Marie-Agnès, Barouk-Simonet, Emmanuelle, Layet, Valérie, Leroux, Dominique, Cohen-Haguenauer, Odile, Prieur, Fabienne, Mouret-Fourme, Emmanuelle, Cornélis, François, Jonveaux, Philippe, Bera, Odile, Cavaciuti, Eve, Tardivon, Anne, Lesueur, Fabienne, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Publicado 2016

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022