Search Results - Sarda, Pierre 

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations by Lana, Erica, Mégarbané, André, Tourrière, Hélène, Sarda, Pierre, Lefranc, Gérard, Claustres, Mireille, De Sario, Albertina

Get full text Get full text Get full text

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome by Brun, Marie-Elisabeth, Lana, Erica, Rivals, Isabelle, Lefranc, Gérard, Sarda, Pierre, Claustres, Mireille, Mégarbané, André, De Sario, Albertina

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions by Bhatt, Samarth, Moradkhani, Kamran, Mrasek, Kristin, Puechberty, Jacques, Manvelyan, Marina, Hunstig, Friederike, Lefort, Genevieve, Weise, Anja, Lespinasse, James, Sarda, Pierre, Liehr, Thomas, Hamamah, Samir, Pellestor, Franck

Get full text Get full text Get full text

Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype by 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

Get full text Get full text Get full text

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay by Amouroux, Cyril, Vincent, Marie, Blanchet, Patricia, Puechberty, Jacques, Schneider, Anouck, Chaze, Anne Marie, Girard, Manon, Tournaire, Magali, Jorgensen, Christian, Morin, Denis, Sarda, Pierre, Lefort, Geneviève, Geneviève, David

Get full text Get full text Get full text

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability by Vincent, Marie, Collet, Corinne, Verloes, Alain, Lambert, Laetitia, Herlin, Christian, Blanchet, Catherine, Sanchez, Elodie, Drunat, Séverine, Vigneron, Jacqueline, Laplanche, Jean-Louis, Puechberty, Jacques, Sarda, Pierre, Geneviève, David

Get full text Get full text Get full text

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling by Corsini, Carole, Gencik, Martin, Willems, Marjolaine, Decker, Eva, Sanchez, Elodie, Puechberty, Jacques, Schneider, Anouck, Girard, Manon, Edery, Patrick, Bretonnes, Patricia, Cottalorda, Jérôme, Lefort, Geneviève, Jeandel, Claire, Sarda, Pierre, Genevieve, David

Get full text Get full text Get full text

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus by 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

Get full text Get full text Get full text

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 by 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 

Get full text Get full text

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability by 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

Get full text Get full text Get full text

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes by 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

Get full text Get full text Get full text

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome by 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

Get full text Get full text

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome by Parri, Veronica, Katzaki, Eleni, Uliana, Vera, Scionti, Francesca, Tita, Rossella, Artuso, Rosangela, Longo, Ilaria, Boschloo, Renske, Vijzelaar, Raymon, Selicorni, Angelo, Brancati, Francesco, Dallapiccola, Bruno, Zelante, Leopoldo, Hamel, Christian P, Sarda, Pierre, Lalani, Seema R, Grasso, Rita, Buoni, Sabrina, Hayek, Joussef, Servais, Laurent, de Vries, Bert B A, Georgoudi, Nelly, Nakou, Sheena, Petersen, Michael B, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

Get full text Get full text Get full text

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction by 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.

Get full text Get full text Get full text

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome by 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.

Get full text Get full text Get full text

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis by de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F

Get full text Get full text Get full text

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing by 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

Get full text Get full text Get full text

Further delineation of Malan syndrome by 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, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

Get full text Get full text Get full text