Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study von Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia

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Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability von Thevenon, Julien, Lopez, Estelle, Keren, Boris, Heron, Delphine, Mignot, Cyril, Altuzarra, Cecilia, Béri-Dexheimer, Mylène, Bonnet, Céline, Magnin, Eloi, Burglen, Lydie, Minot, Delphine, Vigneron, Jacqueline, Morle, Sophie, Anheim, Mathieu, Charles, Perrine, Brice, Alexis, Gallagher, Louise, Amiel, Jeanne, Haffen, Emmanuel, Mach, Corinne, Depienne, Christel, Doummar, Diane, Bonnet, Marlène, Duplomb, Laurence, Carmignac, Virginie, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Roze, Virginie, Aral, Bernard, Razavi, Ferechte, Jonveaux, Philippe, Faivre, Laurence, Thauvin-Robinet, Christel

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De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis von Auger, Julie, Bonnet, Céline, Valduga, Mylène, Philippe, Christophe, Bertolo-Houriez, Emmanuelle, Beri-Dexheimer, Mylène, Schweitzer, Cyril, Leheup, Bruno, Jonveaux, Philippe

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De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection von Thevenon, Julien, Callier, Patrick, Thauvin‐Robinet, Christel, Mejean, Nathalie, Falcon‐Eicher, Sylvie, Maynadie, Marc, de Maistre, Emmanuel, Bidot, Samuel, Huet, Frédéric, Beri‐Dexheimer, Mylène, Jonveaux, Philippe, Mugneret, Francine, Faivre, Laurence

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Retracted: Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X‐linked... von Bonnet, Céline, Masurel‐Paulet, Alice, Khan, Asma Ali, Béri‐Dexheimer, Mylène, Callier, Patrick, Mugneret, Francine, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence, Jonveaux, Philippe

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De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection von Thevenon, Julien, Callier, Patrick, Thauvin-Robinet, Christel, Mejean, Nathalie, Falcon-Eicher, Sylvie, Maynadie, Marc, de Maistre, Emmanuel, Bidot, Samuel, Huet, Frédéric, Beri-Dexheimer, Mylène, Jonveaux, Philippe, Mugneret, Francine, Faivre, Laurence

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Identification of an Acute Basophilic Leukaemia Carrying a Rare e6a2 BCR-ABL Transcript von Grégoire, Marie-José, Latger-Cannard, Véronique, Staal, Anne, Bologna, Serge, Leotard, Brigitte, Rault, Jean-Philippe, Béry-Dexheimer, Mylène, Jonveaux, Philippe

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

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Cobalamin Potentiates Vinblastine Cytotoxicity Through Downregulation of mdr-1 Gene Expression in HepG2 Cells von Marguerite, Véronique, Beri-Dexheimer, Myléne, Ortiou, Sandrine, Guéant, Jean-Louis, Merten, Marc

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RUNXIT1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability von TUAN HUYNH, Minh, BERI-DEXHEIMER, Mylène, BONNET, Céline, BRONNER, Myriam, ALI KHAN, Asma, ALLOU, Lila, PHILIPPE, Christophe, VIGNERON, Jacqueline, JONVEAUX, Philippe

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Recherche de gènes candidats responsables d'anomalies du développement grâce à la caractérisation moléculaire de microremaniements chromosomiques von Beri-Dexheimer, Mylène

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De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection von Thevenon, Julien, Callier, Patrick, Thauvin-Robinet, Christel, Mejean, Nathalie, Falcon-Eicher, Sylvie, Maynadie, Marc, de Maistre, Emmanuel, Bidot, Samuel, Huet, Frédéric, Beri-Dexheimer, Mylène, Jonveaux, Philippe, Mugneret, Francine, Faivre, Laurence

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