Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients
Melotti, Paola, Mafficini, Andrea, Lebecque, Patrick, Ortombina, Myriam, Leal, Teresinha, Pintani, Emily, Pepermans, Xavier, Sorio, Claudio, Assael, Baroukh Maurice
Published in PloS one (12.12.2014)
Published in PloS one (12.12.2014)
Get full text
Journal Article
Role of sweat ion ratios in diagnosing cystic fibrosis
Treggiari, Davide, Tridello, Gloria, Menin, Laura, Borruso, Antonella, Pintani, Emily, Iansa, Patrizia, Cipolli, Marco, Melotti, Paola
Published in Pediatric pulmonology (01.07.2021)
Published in Pediatric pulmonology (01.07.2021)
Get full text
Journal Article
Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
Morini, Jacopo, Nacci, Lucia, Babini, Gabriele, Cesaro, Simone, Valli, Roberto, Ottolenghi, Andrea, Nicolis, Elena, Pintani, Emily, Maserati, Emanuela, Cipolli, Marco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella
Published in British journal of haematology (01.05.2019)
Published in British journal of haematology (01.05.2019)
Get full text
Journal Article
Real-Life Experience with CFTR Modulators Shows Correction of LAD-IV Phenotype in Cystic Fibrosis
Montresor, Alessio, D'Ulivo, Beatrice, Preato, Sara, Farinazzo, Alessia, Pintani, Emily, Chiara, Elena Dalla, Torroni, Lorena, Verlato, Giuseppe, Boscia, Silvia, Pisano, Laura, Mangone, Giusi, Ricci, Silvia, Azzari, Chiara, Taccetti, Giovanni, Terlizzi, Vito, Cipolli, Marco, Melotti, Paola, Sorio, Claudio, Laudanna, Carlo
Published in American journal of respiratory cell and molecular biology (01.10.2024)
Published in American journal of respiratory cell and molecular biology (01.10.2024)
Get full text
Journal Article
Optical Measurements of Sweat for in Vivo Quantification of CFTR Function in Individual Sweat Glands
Treggiari, Davide, Kleinfelder, Karina, Bertini, Marina, Tridello, Gloria, Fedrigo, Arianna, Pintani, Emily, Iansa, Patrizia, Casiraghi, Antonella, Minghetti, Paola, Cipolli, Marco, Sorio, Claudio, Melotti, Paola
Published in Journal of cystic fibrosis (01.09.2021)
Published in Journal of cystic fibrosis (01.09.2021)
Get full text
Journal Article
Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years
Pegoraro, Anna, Bezzerri, Valentino, Tridello, Gloria, Brignole, Cecilia, Lucca, Francesca, Pintani, Emily, Danesino, Cesare, Cesaro, Simone, Fioredda, Francesca, Cipolli, Marco
Published in Cancers (01.04.2024)
Published in Cancers (01.04.2024)
Get full text
Journal Article
Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0–8 years old
Cipolli, Marco, Tridello, Gloria, Micheletto, Alessio, Perobelli, Sandra, Pintani, Emily, Cesaro, Simone, Maserati, Emanuela, Nicolis, Elena, Danesino, Cesare
Published in BMJ open (01.01.2019)
Published in BMJ open (01.01.2019)
Get full text
Journal Article
The pathogenic variant c.258+533_459+403del in SBDS gene is the commonest rare variant in Italy and shows a founder effect
Foroni, Selena, Taha, Ibrahim, Bezzerri, Valentino, Pintani, Emily, Cipolli, Marco, Danesino, Cesare, Mazza, Tommaso, Minelli, Antonella
Published in Gene reports (01.06.2023)
Published in Gene reports (01.06.2023)
Get full text
Journal Article
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants
Angyal, Dora, Kleinfelder, Karina, Ciciriello, Fabiana, Groeneweg, Tessa A., De Marchi, Giulia, de Pretis, Nicolò, Bernardoni, Laura, Rodella, Luca, Tomba, Francesco, De Angelis, Paola, Surace, Cecilia, Pintani, Emily, Alghisi, Federico, de Jonge, Hugo R., Melotti, Paola, Sorio, Claudio, Lucidi, Vincenzina, Bijvelds, Marcel J.C., Frulloni, Luca
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.05.2024)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.05.2024)
Get full text
Journal Article
Whole exome sequencing discloses heterozygous variants in the DNAJC 21 and EFL 1 genes but not in SRP 54 in 6 out of 16 patients with Shwachman‐Diamond Syndrome carrying biallelic SBDS mutations
Morini, Jacopo, Nacci, Lucia, Babini, Gabriele, Cesaro, Simone, Valli, Roberto, Ottolenghi, Andrea, Nicolis, Elena, Pintani, Emily, Maserati, Emanuela, Cipolli, Marco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella
Published in British journal of haematology (01.05.2019)
Published in British journal of haematology (01.05.2019)
Get full text
Journal Article
Genotypic and phenotypic relatedness of Pseudomonas aeruginosa isolates among the major cystic fibrosis patient cohort in Italy
Cigana, Cristina, Melotti, Paola, Baldan, Rossella, Pedretti, Elisa, Pintani, Emily, Iansa, Patrizia, De Fino, Ida, Favari, Flavio, Bergamini, Gabriella, Tridello, Gloria, Cirillo, Daniela M, Assael, Baroukh M, Bragonzi, Alessandra
Published in BMC microbiology (11.07.2016)
Published in BMC microbiology (11.07.2016)
Get full text
Journal Article
The impact of chest computed tomography and chest radiography on clinical management of cystic fibrosis lung disease
Bortoluzzi, Carla F, Pontello, Eleonora, Pintani, Emily, de Winter-de Groot, Karin M, D'Orazio, Ciro, Assael, Baroukh M, Hunink, M.G. Myriam, Tiddens, Harm A.W.M, Caudri, Daan
Published in Journal of cystic fibrosis (01.07.2020)
Published in Journal of cystic fibrosis (01.07.2020)
Get full text
Journal Article
HLA-G expression and regulation during Pseudomonas aeruginosa infection in cystic fibrosis patients
Rizzo, Roberta, Bergamini, Gabriella, Bortolotti, Daria, Leal, Teresinha, D'Orazio, Ciro, Pintani, Emily, Melchiorri, Loredana, Zavatti, Eleonora, Assael, Baroukh M, Sorio, Claudio, Melotti, Paola
Published in Future microbiology (01.01.2016)
Published in Future microbiology (01.01.2016)
Get full text
Journal Article
Multilinear Regression Analysis of Sweat Secretion Volumes in Cystic Fibrosis Patients
Paola Lecca, Marina Bertini, Roberta Vicentini, Emily Pintani, Ciro D’Orazio, Valeria Esposito, Karina Kleinfelder, Claudio Sorio, Paola Melotti
Published in Proceedings of the XXth Conference of Open Innovations Association FRUCT (01.11.2018)
Get full text
Published in Proceedings of the XXth Conference of Open Innovations Association FRUCT (01.11.2018)
Journal Article
Italian Cystic Fibrosis Registry (ICFR). Report 2015-2016
Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Padoan, Rita, Floridia, Giovanna, Salvatore, Donatello, Carnovale, Vincenzo, Puppo Fornaro, Gianna, Taruscio, Domenica, Salvatore, Marco
Published in Epidemiologia e prevenzione (01.07.2019)
Published in Epidemiologia e prevenzione (01.07.2019)
Get more information
Journal Article
HLA-G expression and regulation during
Rizzo, Roberta, Bergamini, Gabriella, Bortolotti, Daria, Leal, Teresinha, D'Orazio, Ciro, Pintani, Emily, Melchiorri, Loredana, Zavatti, Eleonora, Assael, Baroukh M, Sorio, Claudio, Melotti, Paola
Published in Future microbiology (01.03.2016)
Published in Future microbiology (01.03.2016)
Get full text
Journal Article
Impact of MIF Gene Promoter Polymorphism on F508del Cystic Fibrosis Patients: e114274
Melotti, Paola, Mafficini, Andrea, Lebecque, Patrick, Ortombina, Myriam, Leal, Teresinha, Pintani, Emily, Pepermans, Xavier, Sorio, Claudio, Assael, Baroukh Maurice
Published in PloS one (01.12.2014)
Published in PloS one (01.12.2014)
Get full text
Journal Article