Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

by Faravelli Francesca, Pierluigi Mauro, Messa Jole, Molinatto Cristina, Biamino Elisa, Belligni Elga F, Zuffardi Orsetta, Ferrero Giovanni B, Silengo Margherita
Published 2009-04-01

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

by Finelli Palma, Sirchia Silvia, Masciadri Maura, Crippa Milena, Recalcati Maria, Rusconi Daniela, Giardino Daniela, Monti Laura, Cogliati Francesca, Faravelli Francesca, Natacci Federica, Zoccante Leonardo, Bernardina Bernardo, Russo Silvia, Larizza Lidia
Published 2012-04-01

Rubinstein-Taybi Syndrome: spectrum of <it>CREBBP </it>mutations in Italian patients

by Uzielli Maria, Divizia Maria T, Atzeri Francesca, Giordano Lucio, Colapietro Patrizia, Manzini Stefano, Mottadelli Federica, Castronovo Paola, Gervasini Cristina, Milani Donatella, Bentivegna Angela, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia
Published 2006-10-01

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

by Poretti Andrea, Vitiello Giuseppina, Hennekam Raoul CM, Arrigoni Filippo, Bertini Enrico, Borgatti Renato, Brancati Francesco, D'Arrigo Stefano, Faravelli Francesca, Giordano Lucio, Huisman Thierry AGM, Iannicelli Miriam, Kluger Gerhard, Kyllerman Marten, Landgren Magnus, Lees Melissa M, Pinelli Lorenzo, Romaniello Romina, Scheer Ianina, Schwarz Christoph E, Spiegel Ronen, Tibussek Daniel, Valente Enza, Boltshauser Eugen
Published 2012-01-01

Mutation spectrum of <it>MLL2 </it>in a cohort of kabuki syndrome patients

by Renieri Alessandra, Prontera Paolo, Priolo Manuela, Patricelli Maria G, Melis Daniela, Mattina Teresa, Lapi Elisabetta, Garavelli Livia, Fischetto Rita, Ferrari Paola, Daolio Cecilia, Douzgou Sofia, Clementi Maurizio, Bonfante Aldo, Accadia Maria, Forzano Francesca, Faravelli Francesca, Dallapiccola Bruno, Digilio Maria C, Calcagnì Alessia, Belligni Elga, D'Addetta Ester V, Zucchetti Federica, Gumiero Barbara, Reymond Alexandre, Silengo Margherita, Loviglio Maria N, Selicorni Angelo, Fusco Carmela, Augello Bartolomeo, Micale Lucia, Mencarelli Maria A, Scarano Gioacchino, Monica Matteo, Toschi Benedetta, Turolla Licia, Vancini Alessandra, Zatterale Adriana, Gabrielli Orazio, Zelante Leopoldo, Merla Giuseppe
Published 2011-06-01