Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion

by Vetro, Annalisa, Pagani, Sara, Silengo, Margherita, Severino, Mariasavina, Bozzola, Elena, Meazza, Cristina, Zuffardi, Orsetta, Bozzola, Mauro
Published 2014

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

by Meazza, Cristina, Lausch, Ekkehard, Pagani, Sara, Bozzola, Elena, Calcaterra, Valeria, Superti-Furga, Andrea, Silengo, Margherita, Bozzola, Mauro
Published 2013

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

Transcriptional Hallmarks of Noonan Syndrome and Noonan-Like Syndrome with Loose Anagen Hair

by Ferrero, Giovanni Battista, Picco, Gabriele, Baldassarre, Giuseppina, Flex, Elisabetta, Isella, Claudio, Cantarella, Daniela, Corá, Davide, Chiesa, Nicoletta, Crescenzio, Nicoletta, Timeus, Fabio, Merla, Giuseppe, Mazzanti, Laura, Zampino, Giuseppe, Rossi, Cesare, Silengo, Margherita, Tartaglia, Marco, Medico, Enzo
Published 2012

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

by Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.
Published 2011

Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome

by TIMEUS, FABIO, CRESCENZIO, NICOLETTA, BALDASSARRE, GIUSEPPINA, DORIA, ALESSANDRA, VALLERO, STEFANO, FOGLIA, LUISELDA, PAGLIANO, SARA, ROSSI, CESARE, SILENGO, MARGHERITA CIRILLO, RAMENGHI, UGO, FAGIOLI, FRANCA, DI MONTEZEMOLO, LUCA CORDERO, FERRERO, GIOVANNI BATTISTA
Published 2013

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

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

by Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Published 2014

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

by Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J, Dentici, Maria L, Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F, Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B, Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D, Tartaglia, Marco
Published 2011

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

by Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Published 2014