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 2015

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

por Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Publicado 2018

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

por Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Publicado 2014

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Publicado 2020

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

por Sironi, Alessandra, Bestetti, Ilaria, Masciadri, Maura, Tumiatti, Francesca, Crippa, Milena, Pantaleoni, Chiara, Russo, Silvia, D’Arrigo, Stefano, Milani, Donatella, Larizza, Lidia, Finelli, Palma
Publicado 2022

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

por Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Publicado 2015

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

por Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado 2019

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

por Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma
Publicado 2022

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

por Catusi, Ilaria, Recalcati, Maria Paola, Bestetti, Ilaria, Garzo, Maria, Valtorta, Chiara, Alfonsi, Melissa, Alghisi, Alberta, Cappellani, Stefania, Casalone, Rosario, Caselli, Rossella, Ceccarini, Caterina, Ceglia, Carlo, Ciaschini, Anna Maria, Coviello, Domenico, Crosti, Francesca, D'Aprile, Annamaria, Fabretto, Antonella, Genesio, Rita, Giagnacovo, Marzia, Granata, Paola, Longo, Ilaria, Malacarne, Michela, Marseglia, Giuseppina, Montaldi, Annamaria, Nardone, Anna Maria, Palka, Chiara, Pecile, Vanna, Pessina, Chiara, Postorivo, Diana, Redaelli, Serena, Renieri, Alessandra, Rigon, Chiara, Tiberi, Fabiola, Tonelli, Mariella, Villa, Nicoletta, Zilio, Anna, Zuccarello, Daniela, Novelli, Antonio, Larizza, Lidia, Giardino, Daniela
Publicado 2019