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

Autor Bonaglia, Maria Clara, Giorda, Roberto, Massagli, Angelo, Galluzzi, Rita, Ciccone, Roberto, Zuffardi, Orsetta
Vydáno 2009

XX males SRY negative: a confirmed cause of infertility

Autor Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta
Vydáno 2011

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf‐Hirschhorn syndrome

Autor Concolino, Daniela, Rossi, Elena, Strisciuglio, Pietro, Iembo, Maria Antonietta, Giorda, Roberto, Ciccone, Roberto, Tenconi, Romano, Zuffardi, Orsetta
Vydáno 2007

MECP2 duplication phenotype in symptomatic females: report of three further cases

Autor Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Vydáno 2014

Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?

Autor Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Vydáno 2008

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

Autor Novara, Francesca, Beri, Silvana, Bernardo, Maria Ester, Bellazzi, Riccardo, Malovini, Alberto, Ciccone, Roberto, Cometa, Angela Maria, Locatelli, Franco, Giorda, Roberto, Zuffardi, Orsetta
Vydáno 2009

The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma

Autor MARTINELLI, CAROLINA, GABRIELE, FABIO, MANAI, FEDERICO, CICCONE, ROBERTO, NOVARA, FRANCESCA, SAUTA, ELISABETTA, BELLAZZI, RICCARDO, PATANE, MONICA, MORONI, ISABELLA, PATERRA, ROSINA, COMINCINI, SERGIO
Vydáno v Cancer Genomics Proteomics (2020)

Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm

Autor Cisternino, Mariangela, Della Mina, Erika, Losa, Laura, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto
Vydáno 2013

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

Autor 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
Vydáno 2010

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Autor Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta
Vydáno 2012

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Autor Clayton-Smith, Jill, Walters, Sarah, Hobson, Emma, Burkitt-Wright, Emma, Smith, Rupert, Toutain, Annick, Amiel, Jeanne, Lyonnet, Stanislas, Mansour, Sahar, Fitzpatrick, David, Ciccone, Roberto, Ricca, Ivana, Zuffardi, Orsetta, Donnai, Dian
Vydáno 2009

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Autor Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valentina, Lunghi, Simona, Coppola, Giangennaro, Orcesi, Simona, Merli, Pietro, Savasta, Salvatore, Veggiotti, Pierangelo, Zuffardi, Orsetta
Vydáno v Eur J Hum Genet (2015)

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Autor Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Vydáno 2008

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

Autor 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
Vydáno 2011

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Autor Della Mina, Erika, Borghesi, Alessandro, Zhou, Hao, Bougarn, Salim, Boughorbel, Sabri, Israel, Laura, Meloni, Ilaria, Chrabieh, Maya, Ling, Yun, Itan, Yuval, Renieri, Alessandra, Mazzucchelli, Iolanda, Basso, Sabrina, Pavone, Piero, Falsaperla, Raffaele, Ciccone, Roberto, Cerbo, Rosa Maria, Stronati, Mauro, Picard, Capucine, Zuffardi, Orsetta, Abel, Laurent, Chaussabel, Damien, Marr, Nico, Li, Xiaoxia, Casanova, Jean-Laurent, Puel, Anne
Vydáno v Proc Natl Acad Sci U S A (2017)

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Autor Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha JL, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E, Eichler, Evan E
Vydáno 2008

The phenotype of recurrent 10q22q23 deletions and duplications

Autor van Bon, Bregje W M, Balciuniene, Jorune, Fruhman, Gary, Nagamani, Sandesh Chakravarthy Sreenath, Broome, Diane L, Cameron, Elizabeth, Martinet, Danielle, Roulet, Eliane, Jacquemont, Sebastien, Beckmann, Jacques S, Irons, Mira, Potocki, Lorraine, Lee, Brendan, Cheung, Sau Wai, Patel, Ankita, Bellini, Melissa, Selicorni, Angelo, Ciccone, Roberto, Silengo, Margherita, Vetro, Annalisa, Knoers, Nine V, de Leeuw, Nicole, Pfundt, Rolph, Wolf, Barry, Jira, Petr, Aradhya, Swaroop, Stankiewicz, Pawel, Brunner, Han G, Zuffardi, Orsetta, Selleck, Scott B, Lupski, James R, de Vries, Bert B A
Vydáno 2011

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

Autor 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
Vydáno 2011

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Autor Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Vydáno 2014