Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series

Autor: Jaillard, Sylvie, Drunat, Séverine, Bendavid, Claude, Aboura, Azzedine, Etcheverry, Amandine, Journel, Hubert, Delahaye, Andrée, Pasquier, Laurent, Bonneau, Dominique, Toutain, Annick, Burglen, Lydie, Guichet, Agnès, Pipiras, Eva, Gilbert-Dussardier, Brigitte, Benzacken, Brigitte, Martin-Coignard, Dominique, Henry, Catherine, David, Albert, Lucas, Josette, Mosser, Jean, David, Véronique, Odent, Sylvie, Verloes, Alain, Dubourg, Christèle

Publikováno v: In European Journal of Medical Genetics 2010 53(2):66-75

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Autor: Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco-Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, Geneviève, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu-Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier-Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh-Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C Geoffrey, Rauch, Anita, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine, Geneviève, David, Julia, Julia, Woods, C. Geoffrey, Mordel, S, Schaeffer, Stéphane, Dupas, S., Laville, Marie-Alice, Chapon, Françoise, Allouche, S., Mordel, Patrick, Dupas, Quentin, Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gérard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

Publikováno v: Genome Medicine
Genome Medicine, BioMed Central, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome medicine, vol. 9, no. 1, pp. 67
Genome Medicine, 2017, 9, pp.67. ⟨10.1186/s13073-017-0452-y⟩
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Genome medicine, 9 (1

Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders.
SCOPUS: ar.j
info:eu-repo/semantics/published

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a577128fe8e8dc2f3734aca318cfa5
https://hal-normandie-univ.archives-ouvertes.fr/hal-02268433

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