DNA Methylation Patterns Correlate with the Expression of SCNN1A , SCNN1B , and SCNN1G (Epithelial Sodium Channel, ENaC) Genes
Pierandrei, Silvia, Truglio, Gessica, Ceci, Fabrizio, Del Porto, Paola, Bruno, Sabina Maria, Castellani, Stefano, Conese, Massimo, Ascenzioni, Fiorentina, Lucarelli, Marco
Published in International journal of molecular sciences (04.04.2021)
Published in International journal of molecular sciences (04.04.2021)
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Journal Article
Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
Published in PloS one (08.10.2019)
Published in PloS one (08.10.2019)
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Quantitative Evaluation of CFTR Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR
Bruno, Sabina Maria, Blaconà, Giovanna, Lo Cicero, Stefania, Castelli, Germana, Virgulti, Mariarita, Testino, Giancarlo, Pierandrei, Silvia, Fuso, Andrea, Cimino, Giuseppe, Ferraguti, Giampiero, Eramo, Adriana, Lucarelli, Marco
Published in Genes (09.09.2023)
Published in Genes (09.09.2023)
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Journal Article
Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract
Sterrantino, Manuela, Fuso, Andrea, Pierandrei, Silvia, Bruno, Sabina Maria, Testino, Giancarlo, Cimino, Giuseppe, Angeloni, Antonio, Lucarelli, Marco
Published in Diagnostics (Basel) (25.01.2021)
Published in Diagnostics (Basel) (25.01.2021)
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Journal Article
Polymorphism of the 3′-UTR of the dopamine transporter gene (DAT) in New World monkeys
Lucarelli, Marco, Visalberghi, Elisabetta, Adriani, Walter, Addessi, Elsa, Pierandrei, Silvia, Manciocco, Arianna, Zoratto, Francesca, Tamellini, Andrea, Vitale, Augusto, Laviola, Giovanni, Alfaro, Jessica Lynch, Pascale, Esterina
Published in Primates (01.01.2017)
Published in Primates (01.01.2017)
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Journal Article
The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes
Pierandrei, Silvia, Luchetti, Andrea, Sanchez, Massimo, Novelli, Giuseppe, Sangiuolo, Federica, Lucarelli, Marco
Published in Molecular therapy. Nucleic acids (05.04.2016)
Published in Molecular therapy. Nucleic acids (05.04.2016)
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Journal Article
Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells
Sette, Giovanni, Lo Cicero, Stefania, Blaconà, Giovanna, Pierandrei, Silvia, Bruno, Sabina Maria, Salvati, Valentina, Castelli, Germana, Falchi, Mario, Fabrizzi, Benedetta, Cimino, Giuseppe, De Maria, Ruggero, Biffoni, Mauro, Eramo, Adriana, Lucarelli, Marco
Published in The European respiratory journal (01.12.2021)
Published in The European respiratory journal (01.12.2021)
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Journal Article
Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting
Blaconà, Giovanna, Raso, Roberto, Castellani, Stefano, Pierandrei, Silvia, Del Porto, Paola, Ferraguti, Giampiero, Ascenzioni, Fiorentina, Conese, Massimo, Lucarelli, Marco
Published in Cellular and molecular life sciences : CMLS (01.05.2022)
Published in Cellular and molecular life sciences : CMLS (01.05.2022)
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Journal Article
Two novel and correlated CF-causing insertions in the
Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco, Buratti, Emanuele
Published in PloS one (08.10.2019)
Published in PloS one (08.10.2019)
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Journal Article
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis
Lucarelli, Marco, Bruno, Sabina Maria, Pierandrei, Silvia, Ferraguti, Giampiero, Stamato, Antonella, Narzi, Fabiana, Amato, Annalisa, Cimino, Giuseppe, Bertasi, Serenella, Quattrucci, Serena, Strom, Roberto
Published in Molecular medicine (Cambridge, Mass.) (21.04.2015)
Published in Molecular medicine (Cambridge, Mass.) (21.04.2015)
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Journal Article
Quantitative Evaluation of ICFTR/I Gene Expression: A Comparison between Relative Quantification by Real-Time PCR and Absolute Quantification by Droplet Digital PCR
Bruno, Sabina Maria, Blaconà, Giovanna, Lo Cicero, Stefania, Castelli, Germana, Virgulti, Mariarita, Testino, Giancarlo, Pierandrei, Silvia, Fuso, Andrea, Cimino, Giuseppe, Ferraguti, Giampiero, Eramo, Adriana, Lucarelli, Marco
Published in Genes (01.09.2023)
Published in Genes (01.09.2023)
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Journal Article
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
Lucarelli, Marco, Bruno, Sabina M, Pierandrei, Silvia, Ferraguti, Giampiero, Testino, Giancarlo, Truglio, Gessica, Strom, Roberto, Quattrucci, Serena
Published in The Journal of molecular diagnostics : JMD (01.07.2016)
Published in The Journal of molecular diagnostics : JMD (01.07.2016)
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Journal Article
DAT gene polymorphisms (rs28363170, rs393795) and levodopa-induced dyskinesias in Parkinson's disease
Purcaro, Carlo, Vanacore, Nicola, Moret, Federica, Di Battista, Maria Elena, Rubino, Alfonso, Pierandrei, Silvia, Lucarelli, Marco, Meco, Giuseppe, Fattapposta, Francesco, Pascale, Esterina
Published in Neuroscience letters (18.01.2019)
Published in Neuroscience letters (18.01.2019)
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Journal Article
A template for mutational data analysis of the CFTR gene
Ferraguti, Giampiero, Pierandrei, Silvia, Maria Bruno, Sabina, Ceci, Fabrizio, Strom, Roberto, Lucarelli, Marco
Published in Clinical chemistry and laboratory medicine (01.09.2011)
Published in Clinical chemistry and laboratory medicine (01.09.2011)
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Journal Article
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation
Lucarelli, Marco, Narzi, Lorena, Pierandrei, Silvia, Bruno, Sabina Maria, Stamato, Antonella, D'Avanzo, Miriam, Strom, Roberto, Quattrucci, Serena
Published in Genetics in medicine (01.09.2010)
Published in Genetics in medicine (01.09.2010)
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Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society: Naples, Italy. 22-25 November 2017
Bevivino, Annamaria, Coiana, Alessandra, Fogazzi, Annalisa, Timelli, Fabiana, Signorini, Sandra, Lucarelli, Marco, Morelli, Patrizia, Padoan, Rita, Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Floridia, Giovanna, Fornaro, Gianna Puppo, Taruscio, Domenica, Salvatore, Marco, Seia, Manuela, Pierandrei, Silvia, Blaconà, Giovanna, Salvati, Valentina, Sette, Giovanni, Cimino, Giuseppe, Sangiuolo, Federica, Eramo, Adriana, Collura, Mirella, Parisi, Elisa, Ferlisi, Annalisa, Traverso, Gabriella, Bertolino, Marcella, Termini, Lisa, Orlando, Maria A., Di Girgenti, Caterina, Pavone, Valeria, Calamia, Maria A., Silvestro, Maria G., Piparo, Caterina Lo, Ficili, Francesca, Colombo, Carla, Tullis, Elizabeth, Davies, Jane C., McKee, Charlotte, DeSouza, Cynthia, Waltz, David, Savage, Jessica, Fisher, Marc, Shilling, Rebecca, Moskowitz, Sam, Robertson, Sarah, Tian, Simon, Taylor-Cousar, Jennifer L., Rowe, Steven M., Beccia, Elisa, Carbone, Annalucia, Favia, Maria, Castellani, Stefano, Angiolillo, Antonella, Casavola, Valeria, Conese, Massimo, Cesana, Bruno M., Falchetti, Diego, Battistini, Fiorella, Bignamini, Elisabetta, Braggion, Cesare, Cirilli, Natalia, Lucanto, Maria C., Lucidi, Vincenzina, Manca, Antonio, Raia, Valeria, Rotolo, Novella, Salvatore, Donatello, Volpi, Sonia, Nazzari, Erica, Guarise, Riccardo, Mileto, Palmiro, Garbarino, Francesca, Alicandro, Gianfranco, Battezzati, Alberto, Di Lullo, Antonella M., Comegna, Marika, Amato, Felice, Iacotucci, Paola, Carnovale, Vincenzo, Cantone, Elena, Iengo, Maurizio, Castaldo, Giuseppe, Orlando, Claudio, Casale, Alida, Sepe, Angela, De Gregorio, Fabiola, De Matteo, Antonia, Castaldo, Alice, Cimbalo, Chiara, Tosco, Antonella, Savi, Daniela, Mordenti, Michela, Bonci, Enea, Troiani, Patrizia, D’Alù, Viviana
Published in Italian journal of pediatrics (16.01.2018)
Published in Italian journal of pediatrics (16.01.2018)
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Journal Article
Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society
Annamaria Bevivino, Alessandra Coiana, Annalisa Fogazzi, Fabiana Timelli, Sandra Signorini, Marco Lucarelli, Patrizia Morelli, Rita Padoan, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Manuela Seia, Silvia Pierandrei, Giovanna Blaconà, Valentina Salvati, Giovanni Sette, Giuseppe Cimino, Federica Sangiuolo, Adriana Eramo, Marco Lucarelli, Mirella Collura, Elisa Parisi, Annalisa Ferlisi, Gabriella Traverso, Marcella Bertolino, Lisa Termini, Maria A. Orlando, Caterina Di Girgenti, Valeria Pavone, Maria A. Calamia, Maria G. Silvestro, Caterina Lo Piparo, Francesca Ficili, Carla Colombo, Elizabeth Tullis, Jane C. Davies, Charlotte McKee, Cynthia DeSouza, David Waltz, Jessica Savage, Marc Fisher, Rebecca Shilling, Sam Moskowitz, Sarah Robertson, Simon Tian, Jennifer L. Taylor-Cousar, Steven M. Rowe, Elisa Beccia, Annalucia Carbone, Maria Favia, Stefano Castellani, Manuela Seia, Antonella Angiolillo, Carla Colombo, Valeria Casavola, Massimo Conese, Rita Padoan, Bruno M. Cesana, Diego Falchetti, Fiorella Battistini, Elisabetta Bignamini, Cesare Braggion, Mirella Collura, Natalia Cirilli, Maria C. Lucanto, Vincenzina Lucidi, Antonio Manca, Valeria Raia, Novella Rotolo, Donatello Salvatore, Sonia Volpi, Erica Nazzari, Riccardo Guarise, Palmiro Mileto, Francesca Garbarino, Gianfranco Alicandro, Alberto Battezzati, Carla Colombo, Barbara Giordani, Annalisa Amato, Fabio Majo, Gianluca Ferrari, Serena Quattrucci, Laura Minicucci, Rita Padoan, Giovanna Floridia, Gianna Puppo Fornaro, Domenica Taruscio, Marco Salvatore, Antonella M. Di Lullo, Marika Comegna, Felice Amato, Paola Iacotucci
Published in Italian journal of pediatrics (01.01.2018)
Published in Italian journal of pediatrics (01.01.2018)
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