Risultati della ricerca - Cacciagli, Pierre

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient di Abidi, Affef, Mignon-Ravix, Cécile, Cacciagli, Pierre, Girard, Nadine, Milh, Mathieu, Villard, Laurent

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Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria di El Waly, Bilal, Mignon-Ravix, Cécile, Cacciagli, Pierre, Buhler, Emmanuelle, ben Zeev, Bruria, Villard, Laurent

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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability di Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane

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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype di Cacciagli, Pierre, Haddad, Marie-Reine, Mignon-Ravix, Cécile, El-Waly, Bilal, Moncla, Anne, Missirian, Chantal, Chabrol, Brigitte, Villard, Laurent

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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome) di Cacciagli, Pierre, Desvignes, Jean-Pierre, Girard, Nadine, Delepine, Marc, Zelenika, Diana, Lathrop, Mark, Lévy, Nicolas, Ledbetter, David H, Dobyns, William B, Villard, Laurent

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Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients di Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane

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The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability di Mortreux, Jérémie, Busa, Tiffany, Germain, Dominique P., Nadeau, Gwenaël, Puechberty, Jacques, Coubes, Christine, Gatinois, Vincent, Cacciagli, Pierre, Duffourd, Yannis, Pinard, Jean-Marc, Tevissen, Hélène, Villard, Laurent, Sanlaville, Damien, Philip, Nicole, Missirian, Chantal

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

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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth di Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye

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