Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18 by Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie‐Gabrielle Mourot, Bruel, Ange‐Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez‐Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin‐Robinet, Christel

Get full text

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping by Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, Faivre, Laurence

Get full text

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome by Faivre, Laurence, Van Kien, Philippe Khau, Callier, Patrick, Ruiz-Pallares, Nathalie, Baudoin, Corinne, Plancke, Aurélie, Wolf, Jean-Eric, Thauvin-Robinet, Christel, Durand, Edith, Minot, Delphine, Dulieu, Véronique, Metaizeau, Jean-Damien, Leheup, Bruno, Coron, Fanny, Bidot, Samuel, Huet, Frédéric, Jondeau, Guillaume, Boileau, Catherine, Claustres, Mireille, Mugneret, Francine

Get full text

A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis by Donzel-Javouhey, Anne, Thauvin-Robinet, Christel, Cusin, Veronica, Madinier, Nathalie, Manceau, Eric, Dipanda, Dominique, Dulieu, Véronique, Mugneret, Francine, Huet, Frédéric, Teyssier, Jean-Raymond, Faivre, Laurence

Get full text

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy by Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, Sacconi, Sabrina

Get full text

Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18 by Hadouiri, Nawale, Thomas, Quentin, Darmency, Véronique, Dulieu, Véronique, De Rougemont, Marie-Gabrielle Mourot, Bruel, Ange-Line, Duffourd, Yannis, Lecoquierre, François, Colomb, Benoit, Perez-Martin, Stéphanie, Ornetti, Paul, Blanchard, Olivier, Sorlin, Arthur, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, Thauvin-Robinet, Christel

Get full text

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies by Lodi, Lorenzo, Melki, Isabelle, Bondet, Vincent, Seabra, Luis, Rice, Gillian I., Carter, Edwin, Lepelley, Alice, Martin-Niclós, Maria José, Al Adba, Buthaina, Bader-Meunier, Brigitte, Barth, Magalie, Blauwblomme, Thomas, Bodemer, Christine, Boespflug-Tanguy, Odile, Dale, Russel C., Desguerre, Isabelle, Ducrocq, Camille, Dulieu, Fabienne, Dumaine, Cécile, Ellul, Pierre, Hadchouel, Alice, Hentgen, Véronique, Hié, Miguel, Hully, Marie, Jeziorski, Eric, Lévy, Romain, Mochel, Fanny, Orcesi, Simona, Passemard, Sandrine, Pouletty, Marie, Quartier, Pierre, Renaldo, Florence, Seidl, Rainer, Shetty, Jay, Neven, Bénédicte, Blanche, Stéphane, Duffy, Darragh, Crow, Yanick J., Frémond, Marie-Louise

Get full text

First dual M 3 antagonists-PDE4 inhibitors: Synthesis and SAR of 4,6-diaminopyrimidine derivatives by Provins, Laurent, Christophe, Bernard, Danhaive, Pierre, Dulieu, Jacques, Durieu, Véronique, Gillard, Michel, Lebon, Florence, Lengelé, Sébastien, Quéré, Luc, van Keulen, BerendJan

Get full text

First dual M3 antagonists-PDE4 inhibitors : Synthesis and SAR of 4,6-diaminopyrimidine derivatives by PROVINS, Laurent, CHRISTOPHE, Bernard, DANHAIVE, Pierre, DULIEU, Jacques, DURIEU, Véronique, GILLARD, Michel, LEBON, Florence, LENGELE, Sébastien, QUERE, Luc, VAN KEULEN, Berendjan

Get full text

First dual M sub(3) antagonists-PDE4 inhibitors: Synthesis and SAR of 4,6- diaminopyrimidine derivatives by Provins, Laurent, Christophe, Bernard, Danhaive, Pierre, Dulieu, Jacques, Durieu, Veronique, Gillard, Michel, Lebon, Florence, Lengele, Sebastien, Quere, Luc, Van Keulen, BerendJan

Get full text