A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

by Bolze, Alexandre, Abhyankar, Avinash, Grant, Audrey V., Patel, Bhavi, Yadav, Ruchi, Byun, Minji, Caillez, Daniel, Emile, Jean-Francois, Pastor-Anglada, Marçal, Abel, Laurent, Puel, Anne, Govindarajan, Rajgopal, de Pontual, Loic, Casanova, Jean-Laurent
Published 2012

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

by de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne
Published 2011

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

by Desplantes, Claire, Fremond, Marie Louise, Beaupain, Blandine, Harousseau, Jean Luc, Buzyn, Agnès, Pellier, Isabelle, Roques, Gaelle, Morville, Pierre, Paillard, Catherine, Bruneau, Julie, Pinson, Lucile, Jeziorski, Eric, Vannier, Jean Pierre, Picard, Capucine, Bellanger, Florence, Romero, Norma, de Pontual, Loïc, Lapillonne, Hélène, Lutz, Patrick, Chantelot, Christine Bellanné, Donadieu, Jean
Published 2014