Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements

af Beri, Silvana, Bonaglia, Maria Clara, Giorda, Roberto
Udgivet 2013

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

af Bonaglia, Maria Clara, Giorda, Roberto, Zanini, Sergio
Udgivet 2014

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

af Bonaglia, Maria Clara, Zanotta, Nicoletta, Giorda, Roberto, D’Angelo, Grazia, Zucca, Claudio
Udgivet i Mol Cytogenet (2015)

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

af Bonaglia, Maria Clara, Giorda, Roberto, Massagli, Angelo, Galluzzi, Rita, Ciccone, Roberto, Zuffardi, Orsetta
Udgivet 2009

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3

af Baroncini, Anna, Bertuzzo, Sara, Quarantini, Rita, Ricciardelli, Paolo, Giorda, Roberto, Bonaglia, Maria Clara
Udgivet 2013

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

af Bonaglia, Maria Clara, Giorda, Roberto, Borgatti, Renato, Felisari, Giorgio, Gagliardi, Chiara, Selicorni, Angelo, Zuffardi, Orsetta
Udgivet 2001

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDerm...

af Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco
Udgivet i Mol Cytogenet (2020)

Partial deletion of DEPDC5 in a child with focal epilepsy

af Bonaglia, Maria Clara, Giorda, Roberto, Epifanio, Roberta, Bertuzzo, Sara, Marelli, Susan, Gerard, Marion, Andrieux, Joris, Zanotta, Nicoletta, Zucca, Claudio
Udgivet i Epilepsia Open (2016)

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

af Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, Bigoni, Stefania, Sensi, Alberto, Baroncini, Anna, Capucci, Antonella, De Agostini, Cristina, Gwilliam, Rhian, Deloukas, Panos, Dunham, Ian, Zuffardi, Orsetta
Udgivet 2008

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

af Kurtas, Nehir, Arrigoni, Filippo, Errichiello, Edoardo, Zucca, Claudio, Maghini, Cristina, D’Angelo, Maria Grazia, Beri, Silvana, Giorda, Roberto, Bertuzzo, Sara, Delledonne, Massimo, Xumerle, Luciano, Rossato, Marzia, Zuffardi, Orsetta, Bonaglia, Maria Clara
Udgivet i J Med Genet (2018)

De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s

af Rossi, Elena, Giorda, Roberto, Bonaglia, Maria Clara, Candia, Stefania Di, Grechi, Elena, Franzese, Adriana, Soli, Fiorenza, Rivieri, Francesca, Patricelli, Maria Grazia, Saccilotto, Donatella, Bonfante, Aldo, Giglio, Sabrina, Beri, Silvana, Rocchi, Mariano, Zuffardi, Orsetta
Udgivet 2012

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

af Pagnamenta, Alistair T, Khan, Hameed, Walker, Susan, Gerrelli, Dianne, Wing, Kirsty, Bonaglia, Maria Clara, Giorda, Roberto, Berney, Tom, Mani, Elisa, Molteni, Massimo, Pinto, Dalila, Le Couteur, Ann, Hallmayer, Joachim, Sutcliffe, James S, Szatmari, Peter, Paterson, Andrew D, Scherer, Stephen W, Vieland, Veronica J, Monaco, Anthony P
Udgivet 2010

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

af Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Udgivet 2011

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

af Vetro, Annalisa, Dehghani, Mohammad Reza, Kraoua, Lilia, Giorda, Roberto, Beri, Silvana, Cardarelli, Laura, Merico, Maurizio, Manolakos, Emmanouil, Parada-Bustamante, Alexis, Castro, Andrea, Radi, Orietta, Camerino, Giovanna, Brusco, Alfredo, Sabaghian, Marjan, Sofocleous, Crystalena, Forzano, Francesca, Palumbo, Pietro, Palumbo, Orazio, Calvano, Savino, Zelante, Leopoldo, Grammatico, Paola, Giglio, Sabrina, Basly, Mohamed, Chaabouni, Myriam, Carella, Massimo, Russo, Gianni, Bonaglia, Maria Clara, Zuffardi, Orsetta
Udgivet i Eur J Hum Genet (2015)

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

af Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Udgivet 2011