“Gestalt diagnosis” for children with suspected genetic syndromes

Por Cianci, Paola, Selicorni, Angelo
Publicado no Ital J Pediatr (2015)

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

Por Bonaglia, Maria Clara, Giorda, Roberto, Borgatti, Renato, Felisari, Giorgio, Gagliardi, Chiara, Selicorni, Angelo, Zuffardi, Orsetta
Publicado em 2001

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

Por Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Publicado no Mol Cytogenet (2015)

Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

Por Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni
Publicado em 2003

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

Por Nacinovich, Renata, Villa, Nicoletta, Redaelli, Serena, Broggi, Fiorenza, Bomba, Monica, Stoppa, Patrizia, Scatigno, Agnese, Selicorni, Angelo, Dalprà, Leda, Neri, Francesca
Publicado em 2014

14q32.3-qter trisomic segment: a case report and literature review

Por Villa, Nicoletta, Scatigno, Agnese, Redaelli, Serena, Conconi, Donatella, Cianci, Paola, Farina, Clotilde, Fossati, Chiara, Dalprà, Leda, Maitz, Silvia, Selicorni, Angelo
Publicado no Mol Cytogenet (2016)

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

Por Parenti, Ilaria, Rovina, Davide, Masciadri, Maura, Cereda, Anna, Azzollini, Jacopo, Picinelli, Chiara, Limongelli, Giuseppe, Finelli, Palma, Selicorni, Angelo, Russo, Silvia, Gervasini, Cristina, Larizza, Lidia
Publicado em 2014

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Por Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
Publicado em 2010

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Por Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado em 2013

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

Por Russo, Silvia, Masciadri, Maura, Gervasini, Cristina, Azzollini, Jacopo, Cereda, Anna, Zampino, Giuseppe, Haas, Oskar, Scarano, Gioacchino, Di Rocco, Maja, Finelli, Palma, Tenconi, Romano, Selicorni, Angelo, Larizza, Lidia
Publicado em 2012

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Por Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, Daniela, Larizza, Lidia, Russo, Silvia, Selicorni, Angelo, Sirchia, Silvia M, Miozzo, Monica
Publicado em 2013

Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Por Ferrante, Maria I., Giorgio, Giovanna, Feather, Sally A., Bulfone, Alessandro, Wright, Victoria, Ghiani, Michela, Selicorni, Angelo, Gammaro, Linda, Scolari, Francesco, Woolf, Adrian S., Sylvie, Odent, Bernard, Le Marec, Malcolm, Sue, Winter, Robin, Ballabio, Andrea, Franco, Brunella
Publicado em 2001

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Por Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia
Publicado em 2006

Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

Por Giglio, Sabrina, Calvari, Vladimiro, Gregato, Giuliana, Gimelli, Giorgio, Camanini, Silvia, Giorda, Roberto, Ragusa, Angela, Guerneri, Silvana, Selicorni, Angelo, Stumm, Marcus, Tonnies, Holger, Ventura, Mario, Zollino, Marcella, Neri, Giovanni, Barber, John, Wieczorek, Dagmar, Rocchi, Mariano, Zuffardi, Orsetta
Publicado em 2002

Clinical utility gene card for: Cornelia de Lange syndrome

Por Ramos, Feliciano J, Puisac, Beatriz, Baquero-Montoya, Carolina, Gil-Rodríguez, Ma Concepción, Bueno, Inés, Deardorff, Matthew A, Hennekam, Raoul C, Kaiser, Frank J, Krantz, Ian D, Musio, Antonio, Selicorni, Angelo, FitzPatrick, David R, Pié, Juan
Publicado no Eur J Hum Genet (2015)

A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

Por Kalscheuer, Vera M., Musante, Luciana, Fang, Cheng, Hoffmann, Kirsten, Fuchs, Celine, Carta, Eloisa, Deas, Emma, Venkateswarlu, Kanamarlapudi, Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Dalprà, Leda, Tzschach, Andreas, Selicorni, Angelo, Lüscher, Bernhard, Ropers, Hans-Hilger, Harvey, Kirsten, Harvey, Robert J.
Publicado em 2009

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Por Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, Ferrero, Giovanni Battista
Publicado no Eur J Hum Genet (2016)

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Por Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Publicado em 2014

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

Por Parri, Veronica, Katzaki, Eleni, Uliana, Vera, Scionti, Francesca, Tita, Rossella, Artuso, Rosangela, Longo, Ilaria, Boschloo, Renske, Vijzelaar, Raymon, Selicorni, Angelo, Brancati, Francesco, Dallapiccola, Bruno, Zelante, Leopoldo, Hamel, Christian P, Sarda, Pierre, Lalani, Seema R, Grasso, Rita, Buoni, Sabrina, Hayek, Joussef, Servais, Laurent, de Vries, Bert B A, Georgoudi, Nelly, Nakou, Sheena, Petersen, Michael B, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Publicado em 2010

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Por 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
Publicado em 2009