Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
de Pontual, Loïc, Gener, Blanca, Simonneau, Michel, Munnich, Arnold, Etchevers, Heather, Amiel, Jeanne, Lyonnet, Stanislas, Attié-Bitach, Tania, Trochet, Delphine, Gaultier, Claude, Laudier, Béatrice, Trang, Ha, Ray, Pierre, Vekemans, Michel
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule
Hébert, Betty, Pietropaolo, Susanna, Même, Sandra, Laudier, Béatrice, Laugeray, Anthony, Doisne, Nicolas, Quartier, Angélique, Lefeuvre, Sandrine, Got, Laurence, Cahard, Dominique, Laumonnier, Frédéric, Crusio, Wim E, Pichon, Jacques, Menuet, Arnaud, Perche, Olivier, Briault, Sylvain
Published in Orphanet journal of rare diseases (01.08.2014)
Published in Orphanet journal of rare diseases (01.08.2014)
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Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature
Laudier, Béatrice, Epiais, Tiphanie, Pâris, Arnaud, Menuet, Arnaud, Briault, Sylvain, Ozsancak, Canan, Perche, Olivier
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Combined deletion of two Condensin II system genes ( NCAPG2 and MCPH1 ) in a case of severe microcephaly and mental deficiency
Perche, Olivier, Menuet, Arnaud, Marcos, Mélanie, Liu, Luyan, Pâris, Arnaud, Utami, Kagistia H, Kervran, Dominique, Cacheux, Valere, Laudier, Béatrice, Briault, Sylvain
Published in European journal of medical genetics (01.11.2013)
Published in European journal of medical genetics (01.11.2013)
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FG syndrome: The FGS2 locus revisited
Perche, Olivier, Laudier, Béatrice, Menuet, Arnaud, Odent, Sylvie, Laumonnier, Frederic, Briault, Sylvain
Published in American journal of medical genetics. Part A (01.06.2012)
Published in American journal of medical genetics. Part A (01.06.2012)
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Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration
Clot, Fabienne, Rovelet-Lecrux, Anne, Lamari, Foudil, Noël, Sandrine, Keren, Boris, Camuzat, Agnès, Michon, Agnès, Jornea, Ludmila, Laudier, Béatrice, de Septenville, Anne, Caroppo, Paola, Campion, Dominique, Cazeneuve, Cécile, Brice, Alexis, LeGuern, Eric, Le Ber, Isabelle
Published in Neurogenetics (01.05.2014)
Published in Neurogenetics (01.05.2014)
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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
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Pure proximal deletion of chromosome 21 and kyphosis
Keren, Boris, Bernardin, Céline, Toutain, Annick, Heron, Delphine, Fouquet, Bernard, Laudier, Béatrice, Telvi, Louise, Romana, Serge Pierrick, Vekemans, Michel, Sanlaville, Damien
Published in European journal of medical genetics (01.11.2007)
Published in European journal of medical genetics (01.11.2007)
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PHOX2B Genotype Allows for Prediction of Tumor Risk in Congenital Central Hypoventilation Syndrome
Trochet, Delphine, O'Brien, Louise M., Gozal, David, Trang, Ha, Nordenskjöld, Agneta, Laudier, Béatrice, Svensson, Pär-Johan, Uhrig, Sabine, Cole, Trevor, Munnich, Arnold, Gaultier, Claude, Lyonnet, Stanislas, Amiel, Jeanne
Published in American journal of human genetics (01.03.2005)
Published in American journal of human genetics (01.03.2005)
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Chesneau, Bertrand, Aubert‐Mucca, Marion, Fremont, Félix, Pechmeja, Jacmine, Soler, Vincent, Isidor, Bertrand, Nizon, Mathilde, Dollfus, Hélène, Kaplan, Josseline, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Busa, Tiffany, Lacombe, Didier, Naudion, Sophie, Amiel, Jeanne, Rio, Marlène, Attie‐Bitach, Tania, Lesage, Cécile, Thouvenin, Dominique, Odent, Sylvie, Morel, Godelieve, Vincent‐Delorme, Catherine, Boute, Odile, Vanlerberghe, Clémence, Dieux, Anne, Boussion, Simon, Faivre, Laurence, Pinson, Lucile, Laffargue, Fanny, Le Guyader, Gwenaël, Le Meur, Guylène, Prieur, Fabienne, Lambert, Victor, Laudier, Beatrice, Cottereau, Edouard, Ayuso, Carmen, Corton‐Pérez, Marta, Bouneau, Laurence, Le Caignec, Cédric, Gaston, Véronique, Jeanton‐Scaramouche, Claire, Dupin‐Deguine, Delphine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
de Pontual, Loïc, Népote, Virginie, Attié-Bitach, Tania, Al Halabiah, Hassan, Trang, Ha, Elghouzzi, Vincent, Levacher, Béatrice, Benihoud, Karim, Augé, Joëlle, Faure, Christophe, Laudier, Béatrice, Vekemans, Michel, Munnich, Arnold, Perricaudet, Michel, Guillemot, François, Gaultier, Claude, Lyonnet, Stanislas, Simonneau, Michel, Amiel, Jeanne
Published in Human molecular genetics (01.12.2003)
Published in Human molecular genetics (01.12.2003)
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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain
Published in American journal of human genetics (01.03.2004)
Published in American journal of human genetics (01.03.2004)
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Journal Article
Rescue of fragile X syndrome phenotypes in Fmr1KO mice by a BKCa channel opener molecule
Hñbert, Betty, Pietropaolo, Susanna, Même, Sandra, Laudier, Bñatrice, Laugeray, Anthony, Doisne, Nicolas, Quartier, Angñlique, Lefeuvre, Sandrine, Got, Laurence, Cahard, Dominique, Laumonnier, Frñdñric, Crusio, Wim E, Pichon, Jacques, Menuet, Arnaud, Perche, Olivier, Briault, Sylvain
Published in Orphanet journal of rare diseases (01.08.2014)
Published in Orphanet journal of rare diseases (01.08.2014)
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Journal Article
PHOX2B gene mutation in a patient with late‐onset central hypoventilation
Trang, Ha, Laudier, Béatrice, Trochet, Delphine, Munnich, Arnold, Lyonnet, Stanislas, Gaultier, Claude, Amiel, Jeanne
Published in Pediatric pulmonology (01.10.2004)
Published in Pediatric pulmonology (01.10.2004)
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