Current Issue

June 2018 - Volume 55 - 6

Phenotypes

  • Review: Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresEditor's Choice (25 May, 2018)
    Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thevenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remerand, Christine Francannet, Fanny Laffargue, Odile Boespflug-Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laetitia Lambert, Christophe Philippe, Mylène Béri-Dexheimer, Jean-Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier-Daire, Marlene Rio, Jean-Paul Bonnefont, Bernard Echenne, Hubert Journel, Lydie Burglen, Sandrine Chantot-Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre-Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin-Robinet, Réseau AChro-Puce, Jean-Michel Pedespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent-Delorme, Bénédicte Duban-Bedu, Nadia Bahi-Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean-Luc Alessandri, Dominique Martin-Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne-Laure Mosca-Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne-Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert-Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent Des Portes, Salima El Chehadeh

Position statement

Diagnostics

Cancer genetics

New disease loci

Complex traits

Clinical guidelines

  • Original article: Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients (25 May, 2018)
    Mathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, Elise Schaefer, Saint-Onge Judith, Anne Bazin, Lucile Pinson, Tania Attie-Bitach, Clarisse Baumann, Melanie Fradin, Genevieve Pierquin, Sophie Julia, Chloé Quélin, Bérénice Doray, Sylvie Berg, Catherine Vincent-Delorme, Laetitia Lambert, Nadine Bachmann, Didier Lacombe, Bertrand Isidor, Nicole Laurent, Roume Joelle, Patricia Blanchet, Sylvie Odent, Dominique Kervran, Nathalie Leporrier, Carine Abel, Karine Segers, Fabienne Guiliano, Emmanuelle Ginglinger-Fabre, Angelo Selicorni, Alice Goldenberg, Salima El Chehadeh, Christine Francannet, Benedicte Demeer, Yannis Duffourd, Christel Thauvin-Robinet, Alain Verloes, Valerie Cormier-Daire, Jean Baptiste Riviere, Laurence Faivre, Julien Thevenon