A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

by Brézin, Antoine P., Nedelec, Brigitte, Barjol, Amandine, Rothschild, Pierre-Raphael, Delpech, Marc, Valleix, Sophie
Published 2011

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

by Dodé, Catherine, Teixeira, Luis, Levilliers, Jacqueline, Fouveaut, Corinne, Bouchard, Philippe, Kottler, Marie-Laure, Lespinasse, James, Lienhardt-Roussie, Anne, Mathieu, Michèle, Moerman, Alexandre, Morgan, Graeme, Murat, Arnaud, Toublanc, Jean-Edmont, Wolczynski, Slawomir, Delpech, Marc, Petit, Christine, Young, Jacques, Hardelin, Jean-Pierre
Published 2006

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

by Niel-Butschi, Florence, Kantelip, Bernadette, Iwaszkiewicz, Justyna, Zoete, Vincent, Boimard, Mathieu, Delpech, Marc, Bourges, Jean-Louis, Renard, Gilles, D’Hermies, François, Pisella, Pierre-Jean, Hamel, Christian, Delbosc, Bernard, Valleix, Sophie
Published 2011

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

by Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Published 2015

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

by Valleix, Sophie, Verona, Guglielmo, Jourde-Chiche, Noémie, Nédelec, Brigitte, Mangione, P. Patrizia, Bridoux, Frank, Mangé, Alain, Dogan, Ahmet, Goujon, Jean-Michel, Lhomme, Marie, Dauteuille, Carolane, Chabert, Michèle, Porcari, Riccardo, Waudby, Christopher A., Relini, Annalisa, Talmud, Philippa J., Kovrov, Oleg, Olivecrona, Gunilla, Stoppini, Monica, Christodoulou, John, Hawkins, Philip N., Grateau, Gilles, Delpech, Marc, Kontush, Anatol, Gillmore, Julian D., Kalopissis, Athina D., Bellotti, Vittorio
Published 2016