Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
BLIEK, Jet, VERDE, Gaetano, FISCHETTO, Rita, LALATTA, Faustina, GIORDANO, Lucio, FERRARI, Paola, CUBELLIS, Maria Vittoria, LARIZZA, Lidia, TEMPLE, I. Karen, MANNENS, Marcel M. A. M, MACKAY, Deborah J. G, RICCIO, Andrea, CALLAWAY, Jonathan, MAAS, Saskia M, DE CRESCENZO, Agostina, SPARAGO, Angela, CERRATO, Flavia, RUSSO, Silvia, FERRAIUOLO, Serena, MICHELA RINALDI, Maria
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Journal Article
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
Sparago, Angela, Russo, Silvia, Cerrato, Flavia, Ferraiuolo, Serena, Castorina, Pierangela, Selicorni, Angelo, Schwienbacher, Christine, Negrini, Massimo, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Anichini, Cecilia, Larizza, Lidia, Riccio, Andrea
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations
Longoni, Mauro, Moncini, Silvia, Cisternino, Mariangela, Morella, Ilaria M., Ferraiuolo, Serena, Russo, Silvia, Mannarino, Savina, Brazzelli, Valeria, Coi, Paola, Zippel, Renata, Venturin, Marco, Riva, Paola
Published in American journal of medical genetics. Part A (01.09.2010)
Published in American journal of medical genetics. Part A (01.09.2010)
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Journal Article
Noonan Syndrome Associated With Both a New Jnk-Activating Familial S0S1 and a De Novo RAF1 Mutations
LONGONI, Mauro, MONCINI, Silvia, VENTURIN, Marco, RIVA, Paola, CISTERNINO, Mariangela, MORELLA, Ilaria M, FERRAIUOLO, Serena, RUSSO, Silvia, MANNARINO, Savina, BRAZZELLI, Valeria, COI, Paola, ZIPPEL, Renata
Published in American journal of medical genetics. Part A (2010)
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Published in American journal of medical genetics. Part A (2010)
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