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)
Get full text
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)
Get full text
Journal Article
Immune constitution monitoring after PBMC transplantation in complete DiGeorge syndrome: An eight-year follow-up
Daguindau, Nicolas, Decot, Véronique, Nzietchueng, Rosine, Ferrand, Christophe, Picard, Capucine, Latger-Cannard, Véronique, Gregoire, Marie José, Beri, Mylène, Salmon, Alexandra, Stoltz, Jean François, Bordigoni, Pierre, Bensoussan, Danièle
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
Published in Clinical immunology (Orlando, Fla.) (01.08.2008)
Get full text
Journal Article
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Thierry, Gaelle, Bénéteau, Claire, Pichon, Olivier, Flori, Elisabeth, Isidor, Bertrand, Popelard, Françoise, Delrue, Marie-Ange, Duboscq-Bidot, Laetitia, Thuresson, Ann-Charlotte, van Bon, Bregje W.M., Cailley, Dorothée, Rooryck, Caroline, Paubel, Agathe, Metay, Corinne, Dusser, Anne, Pasquier, Laurent, Béri, Mylène, Bonnet, Céline, Jaillard, Sylvie, Dubourg, Christèle, Tou, Bassim, Quéré, Marie-Pierre, Soussi-Zander, Cecilia, Toutain, Annick, Lacombe, Didier, Arveiler, Benoit, de Vries, Bert B.A., Jonveaux, Philippe, David, Albert, Le Caignec, Cédric
Published in American journal of medical genetics. Part A (01.07.2012)
Published in American journal of medical genetics. Part A (01.07.2012)
Get full text
Journal Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine
Published in European journal of human genetics : EJHG (01.06.2013)
Published in European journal of human genetics : EJHG (01.06.2013)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Extended spectrum of MBD5 mutations in neurodevelopmental disorders
Bonnet, Céline, Ali Khan, Asma, Bresso, Emmanuel, Vigouroux, Charlène, Béri, Mylène, Lejczak, Sarah, Deemer, Bénédicte, Andrieux, Joris, Philippe, Christophe, Moncla, Anne, Giurgea, Irina, Devignes, Marie-Dominique, Leheup, Bruno, Jonveaux, Philippe
Published in European journal of human genetics : EJHG (01.12.2013)
Published in European journal of human genetics : EJHG (01.12.2013)
Get full text
Journal Article
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction
Landais, Emilie, Leroy, Camille, Kleinfinger, Pascale, Brunet, Stéphanie, Koubi, Valérie, Pietrement, Christine, Poli-Mérol, Marie-Laurence, Fiquet, Caroline, Souchon, Pierre-François, Beri, Mylène, Jonveaux, Philippe, Garnotel, Roselyne, Gaillard, Dominique, Doco-Fenzy, Martine
Published in American journal of medical genetics. Part A (01.06.2015)
Published in American journal of medical genetics. Part A (01.06.2015)
Get full text
Journal Article
Chromosomally integrated HHV-6: slow decrease of HHV-6 viral load after hematopoietic stem-cell transplantation
Jeulin, Hélène, Guéry, Matthieu, Clément, Laurence, Salmon, Alexandra, Beri, Mylène, Bordigoni, Pierre, Venard, Véronique
Published in Transplantation (15.11.2009)
Published in Transplantation (15.11.2009)
Get more information
Journal Article
Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication
Piard, Juliette, Philippe, Christophe, Marvier, Marie, Beneteau, Claire, Roth, Virginie, Valduga, Mylène, Béri, Mylène, Bonnet, Céline, Grégoire, Marie-José, Jonveaux, Philippe, Leheup, Bruno
Published in American journal of medical genetics. Part A (01.08.2010)
Published in American journal of medical genetics. Part A (01.08.2010)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
Dubourg, Christèle, Sanlaville, Damien, Doco-Fenzy, Martine, Le Caignec, Cédric, Missirian, Chantal, Jaillard, Sylvie, Schluth-Bolard, Caroline, Landais, Emilie, Boute, Odile, Philip, Nicole, Toutain, Annick, David, Albert, Edery, Patrick, Moncla, Anne, Martin-Coignard, Dominique, Vincent-Delorme, Catherine, Mortemousque, Isabelle, Duban-Bedu, Bénédicte, Drunat, Sèverine, Beri, Mylène, Mosser, Jean, Odent, Sylvie, David, Véronique, Andrieux, Joris
Published in European journal of medical genetics (01.03.2011)
Published in European journal of medical genetics (01.03.2011)
Get full text
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)
Get full text
Journal Article
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism
Mosca-Boidron, Anne-Laure, Valduga, Mylène, Thauvin-Robinet, Christel, Lagarde, Nathalie, Marle, Nathalie, Henry, Céline, Pinoit, Jean-Michel, Huet, Frédéric, Béri-Deixheimer, Mylène, Ragon, Clémence, Gueneau, Lucie, Payet, Muriel, Callier, Patrick, Mugneret, Francine, Jonveaux, Philippe, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
Get full text
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)
Get more information
Journal Article
Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'
BERI-DEIXHEIMER, Mylène, GREGOIRE, Marie-José, TOUTAIN, Annick, BROCHET, Karène, BRIAULT, Sylvain, SCHAFF, Jean-Luc, LEHEUP, Bruno, JONVEAUX, Philippe
Published in European journal of human genetics : EJHG (01.04.2007)
Published in European journal of human genetics : EJHG (01.04.2007)
Get full text
Journal Article