GC-MS-based urine metabolic profiling of autism spectrum disorders von Emond, Patrick, Mavel, Sylvie, Aïdoud, Nacima, Nadal-Desbarats, Lydie, Montigny, Frédéric, Bonnet-Brilhault, Frédérique, Barthélémy, Catherine, Merten, Marc, Sarda, Pierre, Laumonnier, Frédéric, Vourc’h, Patrick, Blasco, Hélène, Andres, Christian R.

Volltext

Mutations in the pre-replication complex cause Meier-Gorlin syndrome von Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, van Bokhoven, Hans, Dean, John, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H, Kau, Nikolaus, Knoers, Nine V A M, MacKenzie, James, Opitz, John M, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P

Volltext

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 von Bondurand, Nadege, Dastot-Le Moal, Florence, Stanchina, Laure, Collot, Nathalie, Baral, Viviane, Marlin, Sandrine, Attie-Bitach, Tania, Giurgea, Irina, Skopinski, Laurent, Reardon, William, Toutain, Annick, Sarda, Pierre, Echaieb, Anis, Lackmy-Port-Lis, Marilyn, Touraine, Renaud, Amiel, Jeanne, Goossens, Michel, Pingault, Veronique

Volltext

Bardet-Biedl Syndrome: A Study of the Renal and Cardiovascular Phenotypes in a French Cohort von Imhoff, Olivier, Marion, Vincent, Stoetzel, Corinne, Durand, Myriam, Holder, Muriel, Sigaudy, Sabine, Sarda, Pierre, Hamel, Christian P, Brandt, Christian, Dollfus, Hélène, Moulin, Bruno

Volltext

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction von Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.

Volltext

Identification of a Novel BBS Gene ( BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome von Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J.L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène

Volltext

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype von Tordjman, Sylvie, Anderson, George M, Botbol, Michel, Toutain, Annick, Sarda, Pierre, Carlier, Michèle, Saugier-Veber, Pascale, Baumann, Clarisse, Cohen, David, Lagneaux, Céline, Tabet, Anne-Claude, Verloes, Alain

Volltext

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes von Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

Volltext

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability von Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

Volltext

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations von LANA, Erica, MEGARBANE, Andre, TOURRIERE, Helene, SARDA, Pierre, LEFRANC, Gerard, CLAUSTRES, Mireille, DE SARIO, Albertina

Volltext

Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome von Brun, Marie-Elisabeth, Lana, Erica, Rivals, Isabelle, Lefranc, Gérard, Sarda, Pierre, Claustres, Mireille, Mégarbané, André, De Sario, Albertina

Volltext

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier von Pellestor, Franck, Ph.D, Puechberty, Jacques, M.D, Weise, Anja, Ph.D, Lefort, Geneviève, M.D, Anahory, Tal, M.D, Liehr, Thomas, M.D, Sarda, Pierre, M.D

Volltext

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies von Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, Sznajer, Yves, Tison, François, Ullmann, Urielle, Van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra

Volltext

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing von Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

Volltext

Δ6- and Δ5-desaturase activities in the human fetal liver: kinetic aspects von Rodriguez, Annie, Sarda, Pierre, Nessmann, Catherine, Boulot, Pierre, Leger, Claude Louis, Descomps, Bernard

Volltext

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria von Akula, Shyam K, Chen, Allen Y, Neil, Jennifer E, Shao, Diane D, Mo, Alisa, Hylton, Norma K, DiTroia, Stephanie, Ganesh, Vijay S, Smith, Richard S, O’Kane, Katherine, Yeh, Rebecca C, Marciano, Jack H, Kirkham, Samantha, Kenny, Connor J, Song, Janet H. T, Al Saffar, Muna, Millan, Francisca, Harris, David J, Murphy, Andrea V, Klemp, Kara C, Braddock, Stephen R, Brand, Harrison, Wong, Isaac, Talkowski, Michael E, O’Donnell-Luria, Anne, Lai, Abbe, Hill, Robert Sean, Mochida, Ganeshwaran H, Doan, Ryan N, Barkovich, A. James, Yang, Edward, Amrom, Dina, Andermann, Eva, Poduri, Annapurna, Walsh, Christopher A

Volltext

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus von Cacciagli, Pierre, Sutera-Sardo, Julie, Borges-Correia, Ana, Roux, Jean-Christophe, Dorboz, Imen, Desvignes, Jean-Pierre, Badens, Catherine, Delepine, Marc, Lathrop, Mark, Cau, Pierre, Lévy, Nicolas, Girard, Nadine, Sarda, Pierre, Boespflug-Tanguy, Odile, Villard, Laurent

Volltext

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... von Valence, Stéphanie, Cochet, Emmanuelle, Rougeot, Christelle, Garel, Catherine, Chantot-Bastaraud, Sandra, Lainey, Elodie, Afenjar, Alexandra, Barthez, Marie-Anne, Bednarek, Nathalie, Doummar, Diane, Faivre, Laurence, Goizet, Cyril, Haye, Damien, Heron, Bénédicte, Kemlin, Isabelle, Lacombe, Didier, Milh, Mathieu, Moutard, Marie-Laure, Riant, Florence, Robin, Stéphanie, Roubertie, Agathe, Sarda, Pierre, Toutain, Annick, Villard, Laurent, Ville, Dorothée, Billette de Villemeur, Thierry, Rodriguez, Diana, Burglen, Lydie

Volltext

Further delineation of Malan syndrome von Priolo, Manuela, Schanze, Denny, Tatton‐Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann‐Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos‐Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw‐Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Haeringen, Arie, Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

Volltext

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway von Dubourg, Christèle, Carré, Wilfrid, Hamdi-Rozé, Houda, Mouden, Charlotte, Roume, Joëlle, Abdelmajid, Benmansour, Amram, Daniel, Baumann, Clarisse, Chassaing, Nicolas, Coubes, Christine, Faivre-Olivier, Laurence, Ginglinger, Emmanuelle, Gonzales, Marie, Levy-Mozziconacci, Annie, Lynch, Sally-Ann, Naudion, Sophie, Pasquier, Laurent, Poidvin, Amélie, Prieur, Fabienne, Sarda, Pierre, Toutain, Annick, Dupé, Valérie, Akloul, Linda, Odent, Sylvie, de Tayrac, Marie, David, Véronique

Volltext