Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans

by Elmakky, Amira, Stanghellini, Ilaria, Landi, Antonio, Percesepe, Antonio
Published 2015

Second Trimester Amniocentesis Is Not a Risk Factor for Very Low Birth Weight and Extremely Low Birth Weight

by Mazza, Vincenzo, Pati, Mariangela, Bertucci, Emma, Cani, Carlotta, Latella, Silvia, Gargano, Giancarlo, Percesepe, Antonio, Volpe, Annibale
Published 2011

Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

by Mazza, Vincenzo, Bertucci, Emma, Latella, Silvia, Cani, Carlotta, Ceccarelli, Pierluca, Iughetti, Lorenzo, Baldinotti, Fulvia, Percesepe, Antonio
Published 2013

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

by Caramaschi, Elisa, Stanghellini, Ilaria, Magini, Pamela, Giuffrida, Maria Grazia, Scullin, Silvia, Giuva, Tiziana, Bergonzini, Patrizia, Guerra, Azzurra, Paolucci, Paolo, Percesepe, Antonio
Published 2014

Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report

by Ponti, Giovanni, Pellacani, Giovanni, Tomasi, Aldo, Percesepe, Antonio, Guarneri, Carmelo, Guerra, Azzurra, Mandel, Victor Desmond, Kisla, Elif, Cevikel, Piril, Neri, Claudia, Menozzi, Cristina, Seidenari, Stefania
Published 2014

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

by Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella
Published 2011

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis

by Tricarico, Rossella, Cortellino, Salvatore, Riccio, Antonio, Jagmohan-Changur, Shantie, van der Klift, Heleen, Wijnen, Juul, Turner, David, Ventura, Andrea, Rovella, Valentina, Percesepe, Antonio, Lucci-Cordisco, Emanuela, Radice, Paolo, Bertario, Lucio, Pedroni, Monica, de Leon, Maurizio Ponz, Mancuso, Pietro, Devarajan, Karthik, Cai, Kathy Q., Klein-Szanto, Andres J.P., Neri, Giovanni, Møller, Pål, Viel, Alessandra, Genuardi, Maurizio, Fodde, Riccardo, Bellacosa, Alfonso
Published 2015