Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Di Fede, Elisabetta, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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Journal Article
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability
Londin, Eric R., Adijanto, Jeffrey, Philp, Nancy, Novelli, Antonio, Vitale, Emilia, Perria, Chiara, Serra, Gigliola, Alesi, Viola, Surrey, Saul, Fortina, Paolo
Published in American journal of medical genetics. Part A (01.09.2014)
Published in American journal of medical genetics. Part A (01.09.2014)
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Journal Article
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
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 in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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Journal Article
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
Angius, Andrea, Uva, Paolo, Oppo, Manuela, Persico, Ivana, Onano, Stefano, Olla, Stefania, Pes, Valentina, Perria, Chiara, Cuccuru, Gianmauro, Atzeni, Rossano, Serra, Gigliola, Cucca, Francesco, Sotgiu, Stefano, Hennekam, Raoul C., Crisponi, Laura
Published in American journal of medical genetics. Part A (01.04.2019)
Published in American journal of medical genetics. Part A (01.04.2019)
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Journal Article
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
Sechi, Annalisa, Deroma, Laura, Dardis, Andrea, Ciana, Giovanni, Bertin, Nicole, Concolino, Daniela, Linari, Silvia, Perria, Chiara, Bembi, Bruno
Published in Molecular genetics and metabolism (01.11.2014)
Published in Molecular genetics and metabolism (01.11.2014)
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Journal Article
Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes
Sinibaldi, Lorenzo, Parisi, Valentina, Lanciotti, Silvia, Fontana, Paolo, Kuechler, Alma, Baujat, Genevieve, Torres, Barbara, Koetting, Judith, Splendiani, Alessandra, Postorivo, Diana, Beygo, Jasmin, Garaci, Francesco G., Malan, Valerie, Lüdecke, Hermann‐Josef, Guida, Valentina, Krumbiegel, Mandy, Lonardo, Fortunato, Novelli, Antonio, Albrecht, Beate, Perria, Chiara, Scarano, Gioacchino, Spielmann, Malte, Nardone, Annamaria M., Battaglia, Agatino, Brancati, Francesco, Bernardini, Laura
Published in Clinical genetics (01.09.2019)
Published in Clinical genetics (01.09.2019)
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335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
Alesi, Viola, Bertoli, Marta, Barrano, Giuseppe, Torres, Barbara, Pusceddu, Silvia, Pastorino, Myriam, Perria, Chiara, Nardone, Anna Maria, Novelli, Antonio, Serra, Gigliola
Published in Gene (01.09.2012)
Published in Gene (01.09.2012)
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Journal Article
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
Alesi, Viola, Bertoli, Marta, Barrano, Giuseppe, Torres, Barbara, Pusceddu, Silvia, Pastorino, Myriam, Perria, Chiara, Nardone, Anna Maria, Novelli, Antonio, Serra, Gigliola
Published in Gene (01.09.2012)
Published in Gene (01.09.2012)
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Journal Article
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients
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 in Human mutation (01.07.2014)
Published in Human mutation (01.07.2014)
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