Found: 4

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  • A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
    By:
    • Biamino, Elisa;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Keller, Roberto;
    • Riberi, Evelise;
    • Gandione, Marina;
    • Calcia, Alessandro;
    • Mancini, Cecilia;
    • Giorgio, Elisa;
    • Cavalieri, Simona;
    • Pappi, Patrizia;
    • Talarico, Flavia;
    • Fea, Antonio M.;
    • De Rubeis, Silvia;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Brusco, Alfredo
    Publication type:
    Article

  • Cover Image, Volume 170A, Number 7, July 2016.

    Published in:
    2016
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Other

  • Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Article

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

    Published in:
    2017
    By:
    • 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;
    • Gerard, Marion;
    • Isidor, Bertrand;
    • Joss, Shelagh;
    • Niel-Bütschi, Florence;
    • Perrone, Maria Dolores;
    • Petit, Florence;
    • Renieri, Alessandra;
    • Romana, Serge;
    • Topa, Alexandra
    Publication type:
    Case Study