Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis von Marrakchi, Slaheddine, Guigue, Philippe, Renshaw, Blair R, Puel, Anne, Pei, Xue-Yuan, Fraitag, Sylvie, Zribi, Jihen, Bal, Elodie, Cluzeau, Céline, Chrabieh, Maya, Towne, Jennifer E, Douangpanya, Jason, Pons, Christian, Mansour, Sourour, Serre, Valérie, Makni, Hafedh, Mahfoudh, Nadia, Fakhfakh, Faiza, Bodemer, Christine, Feingold, Josué, Hadj-Rabia, Smail, Favre, Michel, Genin, Emmanuelle, Sahbatou, Mourad, Munnich, Arnold, Casanova, Jean-Laurent, Sims, John E, Turki, Hamida, Bachelez, Hervé, Smahi, Asma

Volltext

Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression von Mochel, Fanny, Charles, Perrine, Seguin, François, Barritault, Julie, Coussieu, Christiane, Perin, Laurence, Le Bouc, Yves, Gervais, Christiane, Carcelain, Guislaine, Vassault, Anne, Feingold, Josué, Rabier, Daniel, Durr, Alexandra

Volltext

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis von Monnot, Sophie, Samuels, David C, Hesters, Laetitia, Frydman, Nelly, Gigarel, Nadine, Burlet, Philippe, Kerbrat, Violaine, Lamazou, Frédéric, Frydman, René, Benachi, Alexandra, Feingold, Josué, Rotig, Agnes, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Volltext

Identifying modifier genes of monogenic disease: strategies and difficulties von Génin, Emmanuelle, Feingold, Josué, Clerget-Darpoux, Françoise

Volltext

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system von Monnot, Sophie, Gigarel, Nadine, Samuels, David C., Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Volltext

Long-term outcome of presymptomatic testing in Huntington disease von Gargiulo, Marcela, Lejeune, Séverine, Tanguy, Marie-Laure, Lahlou-Laforêt, Khadija, Faudet, Anne, Cohen, David, Feingold, Josué, Durr, Alexandra

Volltext

Screening of OPTN in French familial amyotrophic lateral sclerosis von Millecamps, Stéphanie, Boillée, Séverine, Chabrol, Elodie, Camu, William, Cazeneuve, Cécile, Salachas, François, Pradat, Pierre-François, Danel-Brunaud, Véronique, Vandenberghe, Nadia, Corcia, Philippe, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaëlle, Seilhean, Danielle, Brice, Alexis, Feingold, Josué, Meininger, Vincent, LeGuern, Eric

Volltext

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy von Cartault, François, Munier, Patrick, Benko, Edgar, Desguerre, Isabelle, Hanein, Sylvain, Boddaert, Nathalie, Bandiera, Simonetta, Vellayoudom, Jeanine, Krejbich-Trotot, Pascale, Bintner, Marc, Hoarau, Jean-Jacques, Girard, Muriel, Génin, Emmanuelle, de Lonlay, Pascale, Fourmaintraux, Alain, Naville, Magali, Rodriguez, Diana, Feingold, Josué, Renouil, Michel, Munnich, Arnold, Westhof, Eric, Fähling, Michael, Lyonnet, Stanislas, Henrion-Caude, Alexandra

Volltext

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?) von Moutard, Marie-Laure, Kieffer, Virginie, Feingold, Josué, Lewin, Fanny, Baron, Jean-Michel, Adamsbaum, Catherine, Gélot, Antoinette, Isapof, Arnaud, Kieffer, François, de Villemeur, Thierry Billette

Volltext

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration von Zerbib, Jennyfer, Seddon, Johanna M, Richard, Florence, Reynolds, Robyn, Leveziel, Nicolas, Benlian, Pascale, Borel, Patrick, Feingold, Josué, Munnich, Arnold, Soubrane, Gisèle, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H

Volltext

Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans von Gigarel, Nadine, Hesters, Laetitia, Samuels, David C., Monnot, Sophie, Burlet, Philippe, Kerbrat, Violaine, Lamazou, Frédéric, Benachi, Alexandra, Frydman, René, Feingold, Josué, Rotig, Agnes, Munnich, Arnold, Bonnefont, Jean-Paul, Frydman, Nelly, Steffann, Julie

Volltext

Female Predominance and Transmission Distortion in the Long-QT Syndrome von Imboden, Medea, Swan, Heikki, Denjoy, Isabelle, Van Langen, Irene Marijke, Latinen-Forsblom, Päivi Johanna, Napolitano, Carlo, Fressart, Véronique, Breithardt, Guenter, Berthet, Myriam, Priori, Silvia, Hainque, Bernard, Wilde, Arthur Arnold Maria, Schulze-Bahr, Eric, Feingold, Josué, Guicheney, Pascale

Volltext

Genome-Wide Scan for Autism Susceptibility Genes von Philippe, Anne, Martinez, Maria, Guilloud-Bataille, Michel, Gillberg, Christopher, Råstam, Maria, Sponheim, Eili, Coleman, Mary, Zappella, Michele, Aschauer, Harald, Van Maldergem, Lionel, Penet, Christiane, Feingold, Josué, Brice, Alexis, Leboyer, Marion

Volltext

A locus for simple pure febrile seizures maps to chromosome 6q22–q24 von Nabbout, Rima, Prud’homme, Jean‐François, Herman, Alexandra, Feingold, Josué, Brice, Alexis, Dulac, Olivier, LeGuern, Eric

Volltext

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients von Lorenz, Delia, Klebe, Stephan, Stevanin, Giovanni, Thier, Sandra, Nebel, Almut, Feingold, Josué, Frederiksen, Henrik, Denis, Elodie, Christensen, Kaare, Schreiber, Stefan, Brice, Alexis, Deuschl, Günther, Dürr, Alexandra

Volltext

The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical Parkinsonism von Camuzat, Agnès, Romana, Marc, Dürr, Alexandra, Feingold, Josué, Brice, Alexis, Ruberg, Merle, Lannuzel, Annie

Volltext

Involvement of the modifier gene of a human Mendelian disorder in a negative selection process von Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge

Volltext

Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis von Corvol, Harriet, Nathan, Nadia, Charlier, Celine, Chadelat, Katarina, Le Rouzic, Philippe, Tabary, Olivier, Fauroux, Brigitte, Henrion-Caude, Alexandra, Feingold, Josue, Boelle, Pierre-Yves, Clement, Annick

Volltext

The Incidence of Rett Syndrome in France von Bienvenu, Thierry, Philippe, Christophe, De Roux, Nicolas, Raynaud, Martine, Bonnefond, Jean Paul, Pasquier, Laurent, Lesca, Gaetan, Mancini, Josette, Jonveaux, Philippe, Moncla, Anne, Feingold, Josué, Chelly, Jamel, Villard, Laurent

Volltext

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever von Belmahi, Latifa, Sefiani, Abdelaziz, Fouveau, Corinne, Feingold, Josué, Delpech, Marc, Grateau, Gilles, Dodé, Catherine

Volltext