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Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (24.01.2017)
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Acceptance of COVID-19 and Influenza Vaccine Co-Administration: Insights from a Representative Italian Survey
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Published in Journal of personalized medicine (20.01.2022)
Published in Journal of personalized medicine (20.01.2022)
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
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
Published in BMC genomics (28.11.2008)
Published in BMC genomics (28.11.2008)
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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
GANA, Simone, VEGGIOTTI, Pierangelo, BI, Weimin, SUTTON, Vernon R, ZUFFARDI, Orsetta, SCIACCA, Giusy, FEDELI, Cristina, BERSANO, Anna, MICIELI, Giuseppe, MAGHNIE, Mohamad, CICCONE, Roberto, ROSSI, Elena, PLUNKETT, Katie
Published in European journal of human genetics : EJHG (01.08.2012)
Published in European journal of human genetics : EJHG (01.08.2012)
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Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation
Piccione, Maria, Piro, Ettore, Serraino, Francesca, Cavani, Simona, Ciccone, Roberto, Malacarne, Michela, Pierluigi, Mauro, Vitaloni, Marianna, Zuffardi, Orsetta, Corsello, Giovanni
Published in European journal of medical genetics (01.04.2012)
Published in European journal of medical genetics (01.04.2012)
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A familial inverted duplication deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications
BONAGLIA, Maria Clara, GIORDA, Roberto, MASSAGLI, Angelo, GALLUZZI, Rita, CICCONE, Roberto, ZUFFARDI, Orsetta
Published in European journal of human genetics : EJHG (01.02.2009)
Published in European journal of human genetics : EJHG (01.02.2009)
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Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
Resta, Nicoletta, Giorda, Roberto, Bagnulo, Rosanna, Beri, Silvana, Mina, Erika Della, Stella, Alessandro, Piglionica, Marilidia, Susca, Francesco Claudio, Guanti, Ginevra, Zuffardi, Orsetta, Ciccone, Roberto
Published in Human genetics (01.10.2010)
Published in Human genetics (01.10.2010)
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MECP2 duplication phenotype in symptomatic females: report of three further cases
Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto
Published in Molecular cytogenetics (28.01.2014)
Published in Molecular cytogenetics (28.01.2014)
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Next Generation Sequencing for Systematic Assessment of Genetics of Small-Vessel Disease and Lacunar Stroke
Bersano, Anna, MD, PhD, Zuffardi, Orsetta, PhD, Pantoni, Leonardo, MD, Quaglini, Silvana, PhD, Ciccone, Roberto, PhD, MD, Vetro, Annalisa, PhD, Persico, Alessandra, MD, Denaro, Maria Federica, MD, Micieli, Giuseppe, MD
Published in Journal of stroke and cerebrovascular diseases (01.04.2015)
Published in Journal of stroke and cerebrovascular diseases (01.04.2015)
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Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease?
Rizzolio, Flavio, Bione, Silvia, Sala, Cinzia, Tribioli, Carla, Ciccone, Roberto, Zuffardi, Orsetta, di Iorgi, Natascia, Maghnie, Mohamad, Toniolo, Daniela
Published in PloS one (23.01.2008)
Published in PloS one (23.01.2008)
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Evolutionary and clinical neocentromeres: two faces of the same coin
Capozzi, Oronzo, Purgato, Stefania, Verdun di Cantogno, Ludovica, Grosso, Enrico, Ciccone, Roberto, Zuffardi, Orsetta, Della Valle, Giuliano, Rocchi, Mariano
Published in Chromosoma (01.08.2008)
Published in Chromosoma (01.08.2008)
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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome
Cau, Milena, Addis, Maria, Congiu, Rita, Meloni, Cristiana, Cao, Antonio, Santaniello, Simona, Loi, Mario, Emma, Francesco, Zuffardi, Orsetta, Ciccone, Roberto, Sole, Gabriella, Melis, Maria Antonietta
Published in Journal of human genetics (01.11.2006)
Published in Journal of human genetics (01.11.2006)
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Inverted duplications: how many of them are mosaic?
PRAMPARO, Tiziano, GIGLIO, Sabrina, GIORDA, Roberto, ROCCHI, Mariano, ZUFFARDI, Orsetta, GREGATO, Giuliana, DE GREGORI, Manuela, PATRICELLI, Maria Grazia, CICCONE, Roberto, SCAPPATICCI, Susi, MANNINO, Gaetano, LOMBARDI, Claudio, PIROLA, Barbara
Published in European journal of human genetics : EJHG (01.09.2004)
Published in European journal of human genetics : EJHG (01.09.2004)
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Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm
Losa, Laura, Della Mina, Erika, Cisternino, Mariangela, Madè, Alexandra, Rossetti, Giulia, Bassi, Lorenzo Andrea, Pieri, Giovanni, Bayindir, Baran, Messa, Jole, Zuffardi, Orsetta, Ciccone, Roberto
Published in Case reports in genetics (01.01.2013)
Published in Case reports in genetics (01.01.2013)
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PRKACB and Carney Complex
Forlino, Antonella, Vetro, Annalisa, Garavelli, Livia, Ciccone, Roberto, London, Edra, Stratakis, Constantine A, Zuffardi, Orsetta
Published in The New England journal of medicine (13.03.2014)
Published in The New England journal of medicine (13.03.2014)
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Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype
Peron, Angela, Novara, Francesca, La Briola, Francesca, Merati, Elisabetta, Giannusa, Emanuela, Segalini, Elena, Anniballi, Gloria, Vignoli, Aglaia, Ciccone, Roberto, Canevini, Maria Paola
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Eichler, Evan E, 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 J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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