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Cappelli, Francesco, Gallini, Chiara, Di Mario, Carlo, Costanzo, Egidio Natalino, Vaggelli, Luca, Tutino, Francesca, Ciaccio, Alfonso, Bartolini, Simone, Angelotti, Paola, Frusconi, Sabrina, Farsetti, Silvia, Vergaro, Giuseppe, Giorgetti, Assuero, Marzullo, Paolo, Genovesi, Dario, Emdin, Michele, Perfetto, Federico
Published in Journal of nuclear cardiology (01.04.2019)
Published in Journal of nuclear cardiology (01.04.2019)
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Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates
Lunghi, Barbara, Bernardi, Francesco, Martinelli, Nicola, Frusconi, Sabrina, Branchini, Alessio, Linari, Silvia, Marchetti, Giovanna, Castaman, Giancarlo, Morfini, Massimo
Published in Journal of thrombosis and haemostasis (01.08.2019)
Published in Journal of thrombosis and haemostasis (01.08.2019)
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Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure
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Published in European journal of heart failure (01.10.2018)
Published in European journal of heart failure (01.10.2018)
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Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis
Iorio, Andrea, De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Pradotto, Luca, Mauro, Alessandro, Mazzeo, Anna, Stancanelli, Claudia, Perfetto, Federico, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Published in European journal of human genetics : EJHG (01.09.2017)
Published in European journal of human genetics : EJHG (01.09.2017)
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene
Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza, Torricelli, Francesca, Benelli, Matteo, Papi, Laura
Published in PloS one (12.06.2015)
Published in PloS one (12.06.2015)
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De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack
Romani, Ilaria, PhD, Borsini, Walter, MD, Nencini, Patrizia, MD, Morrone, Amelia, PhD, Ferri, Lorenzo, PhD, Frusconi, Sabrina, BSc, Donadio, Vincenzo Angelo, PhD, Liguori, Rocco, MD, Donati, Maria Alice, MD, Falconi, Serena, BSc, Pracucci, Giovanni, MD, Inzitari, Domenico, MD
Published in Journal of stroke and cerebrovascular diseases (01.11.2015)
Published in Journal of stroke and cerebrovascular diseases (01.11.2015)
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The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant
Perfetto, Federico, Frusconi, Sabrina, Bergesio, Franco, Grifoni, Elisa, Fabbri, Alessia, Giuliani, Costanza, Falconi, Serena, Bonifacio, Stefania, Cappelli, Francesco
Published in Journal of community hospital internal medicine perspectives (01.01.2015)
Published in Journal of community hospital internal medicine perspectives (01.01.2015)
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The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A
Lunghi, Barbara, Morfini, Massimo, Martinelli, Nicola, Balestra, Dario, Linari, Silvia, Frusconi, Sabrina, Branchini, Alessio, Cervellera, Christian F, Marchetti, Giovanna, Castaman, Giancarlo, Bernardi, Francesco
Published in Thrombosis and haemostasis (01.05.2022)
Published in Thrombosis and haemostasis (01.05.2022)
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Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy
Mazzarotto, Francesco, Argirò, Alessia, Zampieri, Mattia, Magri, Chiara, Giotti, Irene, Boschi, Beatrice, Frusconi, Sabrina, Gennarelli, Massimo, Buxbaum, Joel, Polimanti, Renato, Olivotto, Iacopo, Perfetto, Federico, Cappelli, Francesco
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Frusconi, Sabrina, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Published in Human genetics (01.12.2019)
Published in Human genetics (01.12.2019)
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Lung uptake during 99mTc-hydroxymethylene diphosphonate scintigraphy in patient with TTR cardiac amyloidosis: An underestimated phenomenon
Cappelli, Francesco, Gallini, Chiara, Costanzo, Egidio Natalino, Tutino, Francesca, Ciaccio, Alfonso, Vaggelli, Luca, Bartolini, Simone, Morini, Sofia, Martone, Raffaele, Angelotti, Paola, Frusconi, Sabrina, Di Mario, Carlo, Perfetto, Federico
Published in International journal of cardiology (01.03.2018)
Published in International journal of cardiology (01.03.2018)
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1152 INVESTIGATION ON THE HIGH INCIDENCE OF THE ATTRV-CAUSING TRANSTHYRETIN VARIANT VAL142ILE IN CENTRAL ITALY
Cappelli, Francesco, Argiro´, Alessia, Zampieri, Mattia, Giotti, Irene, Boschi, Beatrice, Frusconi, Sabrina, Buxbaum, Joel, Gennarelli, Massimo, Polimanti, Renato, Olivotto, Iacopo, Perfetto, Federico, Mazzarotto, Francesco
Published in European heart journal supplements (15.12.2022)
Published in European heart journal supplements (15.12.2022)
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Different NT-proBNP circulating levels for different types of cardiac amyloidosis
Perfetto, Federico, Bergesio, Franco, Grifoni, Elisa, Fabbri, Alessia, Ciuti, Gabriele, Frusconi, Sabrina, Angelotti, Paola, Spini, Valentina, Cappelli, Francesco
Published in Journal of cardiovascular medicine (Hagerstown, Md.) (01.11.2016)
Published in Journal of cardiovascular medicine (Hagerstown, Md.) (01.11.2016)
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Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis
Iorio, Andrea, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Pradotto, Luca G, Mazzeo, Anna, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Published in BMC genomics (23.03.2017)
Published in BMC genomics (23.03.2017)
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The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience
Cappelli, Francesco, Frusconi, Sabrina, Bergesio, Franco, Grifoni, Elisa, Fabbri, Alessia, Giuliani, Costanza, Falconi, Serena, Bonifacio, Stefania, Perfetto, Federico
Published in Journal of cardiovascular medicine (Hagerstown, Md.) (01.02.2016)
Published in Journal of cardiovascular medicine (Hagerstown, Md.) (01.02.2016)
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Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
De Lillo, Antonella, Pathak, Gita A, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Perfetto, Federico, Frusconi, Sabrina, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato
Published in Clinical epigenetics (17.11.2020)
Published in Clinical epigenetics (17.11.2020)
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Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System
Gerundino, Francesca, Giachini, Claudia, Contini, Elisa, Benelli, Matteo, Marseglia, Giuseppina, Giuliani, Costanza, Marin, Francesca, Nannetti, Genni, Lisi, Ermanna, Sbernini, Fiammetta, Periti, Enrico, Cordisco, Adalgisa, Colosi, Enrico, D'ambrosio, Valentina, Mazzi, Marta, Rossi, Maya, Staderini, Lucia, Minuti, Barbara, Pelo, Elisabetta, Cicatiello, Rita, Maruotti, Giuseppe Maria, Sglavo, Gabriella, Conti, Anna, Frusconi, Sabrina, Pescucci, Chiara, Torricelli, Francesca
Published in The journal of maternal-fetal & neonatal medicine (19.03.2017)
Published in The journal of maternal-fetal & neonatal medicine (19.03.2017)
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The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant
Perfetto, Federico, Frusconi, Sabrina, Bergesio, Franco, Grifoni, Elisa, Fabbri, Alessia, Giuliani, Costanza, Falconi, Serena, Bonifacio, Stefania, Cappelli, Francesco
Published in Journal of community hospital internal medicine perspectives (01.03.2015)
Published in Journal of community hospital internal medicine perspectives (01.03.2015)
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene: e0129099
Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza
Published in PloS one (01.06.2015)
Published in PloS one (01.06.2015)
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