Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate dise... von Di Gregorio, E., Riberi, E., Belligni, E.F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., Giordano, M., Guala, A., Keller, R., Mandrile, G., Arduino, C., Maffè, A., Naretto, V.G., Sirchia, F., Sorasio, L., Ungari, S., Zonta, A., Zacchetti, G., Talarico, F., Pappi, P., Cavalieri, S., Giorgio, E., Mancini, C., Ferrero, M., Brussino, A., Savin, E., Gandione, M., Pelle, A., Giachino, D.F., De Marchi, M., Restagno, G., Provero, P., Cirillo Silengo, M., Grosso, E., Buxbaum, J.D., Pasini, B., De Rubeis, S., Brusco, A., Ferrero, G.B.

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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome von Sorasio, L., Ferrero, G.B., Garelli, E., Brunello, G., Martano, C., Carando, A., Belligni, E., Dianzani, I., Cirillo Silengo, M.

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Auriculo-condylar syndrome or new syndrome? von Divizia, M T, Cordone, A, Bado, M, Rosaia, L, Cirillo Silengo, M, Ravazzolo, R, Lerone, M

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Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10 von MARTUCCIELLO, G, BICOCCHI, M. P, DODERO, P, LERONE, M, SILENGO CIRILLO, M, PULITI, A, GIMELLI, G, ROMEO, G, JASONNI, V

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Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation von Franceschini, P, Cirillo Silengo, M, Davi, G, Bianco, R, Biagioli, M

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The overlap between Sotos and Beckwith-Wiedemann syndromes von Mussa, Alessandro, MD, Chiesa, Nicoletta, PhD, Porta, Francesco, MD, Baldassarre, Giuseppina, MD, Silengo, Margherita Cirillo, MD, Ferrero, Giovanni Battista, MD, PhD

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Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies von Franceschini, P, Cirillo Silengo, M, Davi, G, Bianco, R, Biagioli, M

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The Coffin-Siris syndrome in two siblings von FRANCESCHINI, P, CIRILLO SILENGO, M, BIANCO, R, BIAGIOLI, M, GUALA, A, LOPEZ BELL, G

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Distinctive skeletal dysplasia in Cockayne syndrome von CIRILLO SILENGO, M, FRANCESCHINI, P, BIANCO, R, BIAGIOLI, M, PASTORIN, L, VISTA, N, BALDASSAR, A, BENSO, L

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A new syndrome with ocular, skeletal and renal involvement von SILENGO, M. C, LOPEZ BELL, G, BIAGIOLI, M, GUALA, A, PORCELLINI, G, FRANCESCHINI, P

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Kniest disease with Pierre Robin syndrome and hydrocephalus von Cirillo Silengo, M, Davi, G F, Bianco, R, DeMarco, A, Franceschini, P

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Ectodermal abnormalities in Kabuki syndrome von Lerone, Margherita, Priolo, Manuela, Naselli, Arturo, Vignolo, Marina, Romeo, Giovanni, Silengo, Margherita Cirillo

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Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies von Silengo, M C, Davi, G F, Franceschini, P

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AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome von Sorasio, L, Ferrero, G B, Garelli, E, Brunello, G, Martano, C, Carando, A, Belligni, E, Dianzani, I, Cirillo Silengo, M

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Auriculo-condylar syndrome or new syndrome? von Divizia, M T, Cordone, A, Bado, M, Rosaia, L, Cirillo Silengo, M, Ravazzolo, R, Lerone, M

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Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter) von Franceschini, P, Silengo, M C, Davi, G F, Santoro, M A, Prandi, G, Fabris, C

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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome von Riccio, Andrea, Sparago, Angela, Cerrato, Flavia, Vernucci, Maria, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo

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Prevalence of beckwith-wiedemann syndrome in North West of Italy von Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Chiesa, Nicoletta, Molinatto, Cristina, Selicorni, Angelo, Richiardi, Lorenzo, Larizza, Lidia, Silengo, Margherita Cirillo, Riccio, Andrea, Ferrero, Giovanni Battista

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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity von Biamino, Elisa, Di Gregorio, Eleonora, Belligni, Elga Fabia, Keller, Roberto, Riberi, Evelise, Gandione, Marina, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Pappi, Patrizia, Talarico, Flavia, Fea, Antonio M., De Rubeis, Silvia, Cirillo Silengo, Margherita, Ferrero, Giovanni Battista, Brusco, Alfredo

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Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum von Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C, Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L, Mancini, Grazia M.S, Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B, Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D, Dallapiccola, Bruno, Tartaglia, Marco

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