Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
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
Published in Genome medicine (23.05.2023)
Published in Genome medicine (23.05.2023)
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Journal Article
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
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
Published in Journal of medical genetics (01.06.2012)
Published in Journal of medical genetics (01.06.2012)
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Journal Article
Clinical phenotype of germline RUNX1 haploinsufficiency : from point mutations to large genomic deletions
BERI-DEXHEIMER, Mylène, LATGER-CANNARD, Véronique, JONVEAUX, Philippe, PHILIPPE, Christophe, BONNET, Céline, CHAMBON, Pascal, ROTH, Virginie, GREGOIRE, Marie-José, BORDIGONI, Pierre, LECOMPTE, Thomas, LEHEUP, Bruno
Published in European journal of human genetics : EJHG (01.08.2008)
Published in European journal of human genetics : EJHG (01.08.2008)
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Journal Article
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 intellectual disability
Bonnet, Céline, Masurel-Paulet, Alice, Khan, Asma Ali, Béri-Dexheimer, Mylène, Callier, Patrick, Mugneret, Francine, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Jonveaux, Philippe
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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Journal Article
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability
Huynh, Minh Tuan, Béri-Dexheimer, Mylène, Bonnet, Céline, Bronner, Myriam, Khan, Asma Ali, Allou, Lila, Philippe, Christophe, Vigneron, Jacqueline, Jonveaux, Philippe
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
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Journal Article
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis
Auger, Julie, Bonnet, Céline, Valduga, Mylène, Philippe, Christophe, Bertolo-Houriez, Emmanuelle, Beri-Dexheimer, Mylène, Schweitzer, Cyril, Leheup, Bruno, Jonveaux, Philippe
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability
Beneteau, Claire, Landais, Emilie, Doco-Fenzy, Martine, Gavazzi, Cyrille, Philippe, Christophe, Béri-Dexheimer, Mylène, Bonnet, Céline, Vigneron, Jacqueline, Walrafen, Pierre, Motte, Jacques, Leheup, Bruno, Jonveaux, Philippe
Published in Journal of medical genetics (01.09.2011)
Published in Journal of medical genetics (01.09.2011)
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Journal Article
Gene-gene interactions of IL13 and IL4RA variants in immediate allergic reactions to betalactam antibiotics
Guéant-Rodriguez, Rosa-Maria, Romano, Antonino, Béri-Dexheimer, Mylène, Viola, Marinella, Gaeta, Francesco, Guéant, Jean-Louis
Published in Pharmacogenetics and genomics (01.10.2006)
Published in Pharmacogenetics and genomics (01.10.2006)
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Journal Article
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection
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
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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Journal Article
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 intellectual disability
Bonnet, Céline, Masurel‐Paulet, Alice, Khan, Asma Ali, Béri‐Dexheimer, Mylène, Callier, Patrick, Mugneret, Francine, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence, Jonveaux, Philippe
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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Journal Article
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Thomas, Hortense, Alix, Tom, Renard, Émeline, Renaud, Mathilde, Wourms, Justine, Zuily, Stéphane, Leheup, Bruno, Geneviève, David, Dreumont, Natacha, Schmitt, Emmanuelle, Bronner, Myriam, Muller, Marc, Divoux, Marion, Wandzel, Marion, Ravel, Jean-Marie, Dexheimer, Mylène, Becker, Aurélie, Roth, Virginie, Willems, Marjolaine, Coubes, Christine, Vieville, Gaëlle, Devillard, Françoise, Schaefer, Élise, Baer, Sarah, Piton, Amélie, Gérard, Bénédicte, Vincent, Marie, Nizon, Mathilde, Cogné, Benjamin, Ruaud, Lyse, Couque, Nathalie, Putoux, Audrey, Edery, Patrick, Lesca, Gaëtan, Chatron, Nicolas, Till, Marianne, Faivre, Laurence, Tran-Mau-Them, Frédéric, Alessandri, Jean-Luc, Lebrun, Marine, Quélin, Chloé, Odent, Sylvie, Dubourg, Christèle, David, Véronique, Faoucher, Marie, Mignot, Cyril, Keren, Boris, Pisan, Élise, Afenjar, Alexandra, Julia, Sophie, Bieth, Éric, Banneau, Guillaume, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lecoquierre, François, Nicolas, Gaël, Charbonnier, Camille, De Saint Martin, Anne, Naudion, Sophie, Degoutin, Manon, Rondeau, Sophie, Michot, Caroline, Cormier-Daire, Valérie, Oussalah, Abderrahim, Pourié, Carine, Lambert, Laëtitia, Bonnet, Céline
Published in Journal of medical genetics (29.08.2024)
Published in Journal of medical genetics (29.08.2024)
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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
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
Published in Journal of medical genetics (01.06.2018)
Published in Journal of medical genetics (01.06.2018)
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Journal Article
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection
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
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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Journal Article
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity
Sloboda, Natacha, Sorlin, Arthur, Valduga, Mylène, Beri-Dexheimer, Mylène, Bilbault, Claire, Fouyssac, Fanny, Becker, Aurélie, Lambert, Laëtitia, Bonnet, Céline, Leheup, Bruno
Published in Frontiers in immunology (16.08.2019)
Published in Frontiers in immunology (16.08.2019)
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Journal Article
Identification of an acute basophilic leukaemia carrying a rare e6a2 BCR-ABL transcript
Grégoire, Marie-José, Latger-Cannard, Véronique, Staal, Anne, Bologna, Serge, Leotard, Brigitte, Rault, Jean-Philippe, Béry-Dexheimer, Mylène, Jonveaux, Philippe
Published in Acta haematologica (01.01.2006)
Published in Acta haematologica (01.01.2006)
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Journal Article
Cobalamin Potentiates Vinblastine Cytotoxicity Through Downregulation of mdr-1 Gene Expression in HepG2 Cells
Marguerite, Véronique, Beri-Dexheimer, Myléne, Ortiou, Sandrine, Guéant, Jean-Louis, Merten, Marc
Published in Cellular physiology and biochemistry (01.01.2007)
Published in Cellular physiology and biochemistry (01.01.2007)
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Journal Article
RUNXIT1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability
TUAN HUYNH, Minh, BERI-DEXHEIMER, Mylène, BONNET, Céline, BRONNER, Myriam, ALI KHAN, Asma, ALLOU, Lila, PHILIPPE, Christophe, VIGNERON, Jacqueline, JONVEAUX, Philippe
Published in American journal of medical genetics. Part A (2012)
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Published in American journal of medical genetics. Part A (2012)
Journal Article
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection
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
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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