Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases
Rusmini, Marta, Federici, Silvia, Caroli, Francesco, Grossi, Alice, Baldi, Maurizia, Obici, Laura, Insalaco, Antonella, Tommasini, Alberto, Caorsi, Roberta, Gallo, Eleonora, Olivieri, Alma Nunzia, Marzano, AngeloValerio, Coviello, Domenico, Ravazzolo, Roberto, Martini, Alberto, Gattorno, Marco, Ceccherini, Isabella
Published in Annals of the rheumatic diseases (01.08.2016)
Published in Annals of the rheumatic diseases (01.08.2016)
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Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Published in Frontiers in genetics (21.03.2022)
Published in Frontiers in genetics (21.03.2022)
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Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia
Aloi, Concetta, Salina, Alessandro, Caroli, Francesco, Bocciardi, Renata, Tappino, Barbara, Bassi, Marta, Minuto, Nicola, d'Annunzio, Giuseppe, Maghnie, Mohamad
Published in Life (Basel, Switzerland) (24.04.2023)
Published in Life (Basel, Switzerland) (24.04.2023)
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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Published in Frontiers in genetics (07.12.2021)
Published in Frontiers in genetics (07.12.2021)
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A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)
Mendonça, Leonardo Oliveira, Grossi, Alice, Caroli, Francesco, de Oliveira, Robson Aguiar, Kalil, Jorge, Castro, Fabio Fernandes Morato, Pontillo, Alessandra, Ceccherini, Isabella, Barros, Myrthes Anna Maragna Toledo, Gattorno, Marco
Published in Pediatric Rheumatology (20.08.2020)
Published in Pediatric Rheumatology (20.08.2020)
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A Bispecific Antibody to Link a TRAIL-Based Antitumor Approach to Immunotherapy
Satta, Alessandro, Grazia, Giulia, Caroli, Francesco, Frigerio, Barbara, Di Nicola, Massimo, Raspagliesi, Francesco, Mezzanzanica, Delia, Zaffaroni, Nadia, Gianni, Alessandro Massimo, Anichini, Andrea, Figini, Mariangela
Published in Frontiers in immunology (25.10.2019)
Published in Frontiers in immunology (25.10.2019)
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Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease
Bachetti, Tiziana, Caroli, Francesco, Bocca, Paola, Prigione, Ignazia, Balbi, Pietro, Biancheri, Roberta, Filocamo, Mirella, Mariotti, Caterina, Pareyson, Davide, Ravazzolo, Roberto, Ceccherini, Isabella
Published in European journal of human genetics : EJHG (01.04.2008)
Published in European journal of human genetics : EJHG (01.04.2008)
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Analysis of Clinically Relevant Single-Nucleotide Polymorphisms by Use of Microelectronic Array Technology
Santacroce, Rosa, Ratti, Antonia, Caroli, Francesco, Foglieni, Barbara, Ferraris, Alessandro, Cremonesi, Laura, Margaglione, Maurizio, Seri, Marco, Ravazzolo, Roberto, Restagno, Gabriella, Dallapiccola, Bruno, Rappaport, Eric, Pollak, Eleanor S, Surrey, Saul, Ferrari, Maurizio, Fortina, Paolo
Published in Clinical chemistry (Baltimore, Md.) (01.12.2002)
Published in Clinical chemistry (Baltimore, Md.) (01.12.2002)
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A validation of diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in Turkish children
Demirkaya, Erkan, Acikel, Cengizhan, Ceccherini, Isabella, Özen, Seza, Karaoglu, Abdulbaki, Dursun, Ismail, Sozeri, Betul, Bilginer, Yelda, Gunduz, Zubeyde, Tunca, Yusuf, Oikonomaki, Katerina, Varela, Ioanna, Caroli, Francesco, Sormani, Maria Pia, Gattorno, Marco
Published in Pediatric Rheumatology (14.09.2011)
Published in Pediatric Rheumatology (14.09.2011)
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
Papa, Riccardo, Rusmini, Marta, Volpi, Stefano, Caorsi, Roberta, Picco, Paolo, Grossi, Alice, Caroli, Francesco, Bovis, Francesca, Musso, Valeria, Obici, Laura, Castana, Cinzia, Ravelli, Angelo, Van Gijn, Marielle E, Ceccherini, Isabella, Gattorno, Marco
Published in Rheumatology (Oxford, England) (01.02.2020)
Published in Rheumatology (Oxford, England) (01.02.2020)
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Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases
Marzano, Angelo V., Ceccherini, Isabella, Gattorno, Marco, Fanoni, Daniele, Caroli, Francesco, Rusmini, Marta, Grossi, Alice, De Simone, Clara, Borghi, Orietta M., Meroni, Pier Luigi, Crosti, Carlo, Cugno, Massimo
Published in Medicine (Baltimore) (01.12.2014)
Published in Medicine (Baltimore) (01.12.2014)
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Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus
Steiner, Annemarie, Reygaerts, Thomas, Pontillo, Alessandra, Ceccherini, Isabella, Moecking, Jonas, Moghaddas, Fiona, Davidson, Sophia, Caroli, Francesco, Grossi, Alice, Castro, Fabio Fernandes Morato, Kalil, Jorge, Gohr, Florian N., Schmidt, Florian I., Bartok, Eva, Zillinger, Thomas, Hartmann, Gunther, Geyer, Matthias, Gattorno, Marco, Mendonça, Leonardo Oliveira, Masters, Seth L.
Published in Journal of clinical immunology (01.02.2022)
Published in Journal of clinical immunology (01.02.2022)
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Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study
Naselli, Aldo, Penco, Federica, Cantarini, Luca, Insalaco, Antonella, Alessio, Mariolina, Tommasini, Alberto, Maggio, Cristina, Obici, Laura, Gallizi, Romina, Cimmino, Marco, Signa, Sara, Lucherini, Orso Maria, Carta, Sonia, Caroli, Francesco, Martini, Alberto, Rubartelli, Anna, Ceccherini, Isabella, Gattorno, Marco
Published in Journal of rheumatology (01.06.2016)
Published in Journal of rheumatology (01.06.2016)
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Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course
Croci, Carolina, Traverso, Monica, Baratto, Serena, Iacomino, Michele, Pedemonte, Marina, Caroli, Francesco, Scala, Marcello, Bruno, Claudio, Fiorillo, Chiara
Published in Acta myologica (30.09.2022)
Published in Acta myologica (30.09.2022)
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
Papa, Riccardo, Rusmini, Marta, Volpi, Stefano, Caorsi, Roberta, Picco, Paolo, Grossi, Alice, Caroli, Francesco, Bovis, Francesca, Musso, Valeria, Obici, Laura, Castana, Cinzia, Ravelli, Angelo, Van Gijn, Marielle E, Ceccherini, Isabella, Gattorno, Marco
Published in Rheumatology (Oxford, England) (01.02.2020)
Published in Rheumatology (Oxford, England) (01.02.2020)
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Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients
Grossi, Alice, Miano, Maurizio, Lanciotti, Marina, Fioredda, Francesca, Guardo, Daniela, Palmisani, Elena, Terranova, Paola, Santamaria, Giuseppe, Caroli, Francesco, Caorsi, Roberta, Volpi, Stefano, Gattorno, Marco, Dufour, Carlo, Ceccherini, Isabella
Published in Genes (24.08.2021)
Published in Genes (24.08.2021)
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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Published in Cancers (14.04.2021)
Published in Cancers (14.04.2021)
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