Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

by Amato, Felice, Seia, Manuela, Giordano, Sonia, Elce, Ausilia, Zarrilli, Federica, Castaldo, Giuseppe, Tomaiuolo, Rossella
Published 2013

Novel use of Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases

by Galbiati, Silvia, Brisci, Angela, Lalatta, Faustina, Seia, Manuela, Makrigiorgos, G. Mike, Ferrari, Maurizio, Cremonesi, Laura
Published 2010

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance

by Paffoni, Alessio, Paracchini, Valentina, Ferrari, Stefania, Scarduelli, Claudia, Seia, Manuela, Coviello, Domenico A., Ragni, Guido
Published 2011

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report

by Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
Published in J Med Case Rep (2016)

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ge...

by Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A. Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M. Cristina
Published 2009

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()

by Sironi, Francesca, Primignani, Paola, Ricca, Sara, Tunesi, Sara, Zini, Michela, Tesei, Silvana, Cilia, Roberto, Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Published 2013

Correction of defective CFTR/ENaC function and tightness of cystic fibrosis airway epithelium by amniotic mesenchymal stromal (stem) cells

by Carbone, Annalucia, Castellani, Stefano, Favia, Maria, Diana, Anna, Paracchini, Valentina, Di Gioia, Sante, Seia, Manuela, Casavola, Valeria, Colombo, Carla, Conese, Massimo
Published 2014

Amniotic Mesenchymal Stem Cells: A New Source for Hepatocyte-Like Cells and Induction of CFTR Expression by Coculture with Cystic Fibrosis Airway Epithelial Cells

by Paracchini, Valentina, Carbone, Annalucia, Colombo, Federico, Castellani, Stefano, Mazzucchelli, Silvia, Di Gioia, Sante, Degiorgio, Dario, Seia, Manuela, Porretti, Laura, Colombo, Carla, Conese, Massimo
Published 2012

Limits and Applications of Genomic Analysis of Circulating Tumor DNA as a Liquid Biopsy in Asymptomatic Forms of Multiple Myeloma

by Manzoni, Martina, Pompa, Alessandra, Fabris, Sonia, Pelizzoni, Francesca, Ciceri, Gabriella, Seia, Manuela, Ziccheddu, Bachisio, Bolli, Niccolò, Corradini, Paolo, Baldini, Luca, Neri, Antonino, Lionetti, Marta
Published in Hemasphere (2020)

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

by Paracchini, Valentina, Seia, Manuela, Raimondi, Sara, Costantino, Lucy, Capasso, Patrizia, Porcaro, Luigi, Colombo, Carla, Coviello, Domenico A, Mariani, Tiziana, Manzoni, Emanuela, Sangiovanni, Monica, Corbetta, Carlo
Published 2011

Gap Junctions Are Involved in the Rescue of CFTR-Dependent Chloride Efflux by Amniotic Mesenchymal Stem Cells in Coculture with Cystic Fibrosis CFBE41o- Cells

by Carbone, Annalucia, Zefferino, Roberto, Beccia, Elisa, Casavola, Valeria, Castellani, Stefano, Di Gioia, Sante, Giannone, Valentina, Seia, Manuela, Angiolillo, Antonella, Colombo, Carla, Favia, Maria, Conese, Massimo
Published in Stem Cells Int (2018)

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

by Contarini, Martina, Shoemark, Amelia, Rademacher, Jessica, Finch, Simon, Gramegna, Andrea, Gaffuri, Michele, Roncoroni, Luca, Seia, Manuela, Ringshausen, Felix C., Welte, Tobias, Blasi, Francesco, Aliberti, Stefano, Chalmers, James D.
Published in Multidiscip Respir Med (2018)

LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population

by Cilia, Roberto, Siri, Chiara, Rusconi, Damiana, Allegra, Roberta, Ghiglietti, Andrea, Sacilotto, Giorgio, Zini, Michela, Zecchinelli, Anna L., Asselta, Rosanna, Duga, Stefano, Paganoni, Anna M., Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Published 2014

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

by Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A
Published 2014

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: A collaborative study

by Estivill, Xavier, Farrall, Martin, Williamson, Robert, Ferrari, Maurizio, Seia, Manuela, Giunta, Anna Maria, Novelli, Giuseppe, Potenza, Lucia, Dallapicolla, Bruno, Borgo, Graziella, Gasparini, Paolo, Pignatti, Pier F., De Benedetti, Laura, Vitale, Emilia, Devoto, Marcella, Romeo, Giovanni
Published 1988

Workload measurement for molecular genetics laboratory: A survey study

by Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra
Published in PLoS One (2018)

When and how ruling out cystic fibrosis in adult patients with bronchiectasis

by Gramegna, Andrea, Aliberti, Stefano, Seia, Manuela, Porcaro, Luigi, Bianchi, Vera, Castellani, Carlo, Melotti, Paola, Sorio, Claudio, Consalvo, Enza, Franceschi, Elisa, Amati, Francesco, Contarini, Martina, Gaffuri, Michele, Roncoroni, Luca, Vigone, Barbara, Bellofiore, Angela, Del Monaco, Cesare, Oriano, Martina, Terranova, Leonardo, Patria, Maria Francesca, Marchisio, Paola, Assael, Baroukh M., Blasi, Francesco
Published in Multidiscip Respir Med (2018)

Clinical expression of cystic fibrosis in a large cohort of Italian siblings

by Terlizzi, Vito, Lucarelli, Marco, Salvatore, Donatello, Angioni, Adriano, Bisogno, Arianna, Braggion, Cesare, Buzzetti, Roberto, Carnovale, Vincenzo, Casciaro, Rosaria, Castaldo, Giuseppe, Cirilli, Natalia, Collura, Mirella, Colombo, Carla, Di Lullo, Antonella Miriam, Elce, Ausilia, Lucidi, Vincenzina, Madarena, Elisa, Padoan, Rita, Quattrucci, Serena, Raia, Valeria, Seia, Manuela, Termini, Lisa, Zarrilli, Federica
Published in BMC Pulm Med (2018)

The Italian registry of pulmonary non-tuberculous mycobacteria - IRENE: the study protocol

by Aliberti, Stefano, Codecasa, Luigi Ruffo, Gori, Andrea, Sotgiu, Giovanni, Spotti, Maura, Di Biagio, Antonio, Calcagno, Andrea, Nardini, Stefano, Assael, Baroukh Maurice, Tortoli, Enrico, Besozzi, Giorgio, Ferrarese, Maurizio, Matteelli, Alberto, Girardi, Enrico, De Lorenzo, Saverio, Seia, Manuela, Gramegna, Andrea, Del Prato, Bruno, Terranova, Leonardo, Oriano, Martina, Sverzellati, Nicola, Mirsaeidi, Mehdi, Chalmers, James D., Haworth, Charles S., Loebinger, Michael R., Aksamit, Timothy, Winthrop, Kevin, Ringshausen, Felix C., Previdi, Giuliana, Blasi, Francesco
Published in Multidiscip Respir Med (2018)

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

by Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, Ferlini, Alessandra
Published in Front Genet (2020)