Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

by Andreotti, Giuseppina, Citro, Valentina, De Crescenzo, Agostina, Orlando, Pierangelo, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria
Published 2011

Silver–Russell Syndrome Due to Paternal H19/IGF2 Hypomethylation in a Twin Girl Born After In Vitro Fertilization

by Cocchi, Guido, Marsico, Concetta, Cosentino, Anita, Spadoni, Chiara, Rocca, Alessandro, De Crescenzo, Agostina, Riccio, Andrea
Published 2013

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

by De Crescenzo, Agostina, Coppola, Filomena, Falco, Pietro, Bernardo, Italo, Ausanio, Gaetano, Cerrato, Flavia, Falco, Luigi, Riccio, Andrea
Published 2011

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restricti...

by De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Miceli, Marco, Bronshtein, Moshe, Riccio, Andrea, Yaron, Yuval
Published 2013

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

by Stagi, Stefano, Lapi, Elisabetta, Pantaleo, Marilena, Carella, Massimo, Petracca, Antonio, De Crescenzo, Agostina, Zelante, Leopoldo, Riccio, Andrea, de Martino, Maurizio
Published 2015

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

by Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Published 2012

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

by Beygo, Jasmin, Citro, Valentina, Sparago, Angela, De Crescenzo, Agostina, Cerrato, Flavia, Heitmann, Melanie, Rademacher, Katrin, Guala, Andrea, Enklaar, Thorsten, Anichini, Cecilia, Cirillo Silengo, Margherita, Graf, Notker, Prawitt, Dirk, Cubellis, Maria Vittoria, Horsthemke, Bernhard, Buiting, Karin, Riccio, Andrea
Published 2013