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

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

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

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

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

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

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

Autor Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
Vydáno v 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...

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

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

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

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

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

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

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

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

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

Autor 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
Vydáno 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

Autor 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
Vydáno v Stem Cells Int (2018)

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

Autor 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.
Vydáno v Multidiscip Respir Med (2018)

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

Autor 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
Vydáno 2014

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

Autor 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
Vydáno 2014

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

Autor 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
Vydáno 1988

Workload measurement for molecular genetics laboratory: A survey study

Autor 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
Vydáno v PLoS One (2018)

Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality

Autor Ardissino, Gianluigi, Longhi, Selena, Porcaro, Luigi, Pintarelli, Giulia, Strumbo, Bice, Capone, Valentina, Cresseri, Donata, Loffredo, Giulia, Tel, Francesca, Salardi, Stefania, Sgarbanti, Martina, Martelli, Laura, Rodrigues, Evangeline Millicent, Borsa-Ghiringhelli, Nicolò, Montini, Giovanni, Seia, Manuela, Cugno, Massimo, Carfagna, Fabio, Consonni, Dario, Tedeschi, Silvana
Vydáno v Kidney Int Rep (2021)

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

Autor 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
Vydáno v Multidiscip Respir Med (2018)

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

Autor 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
Vydáno v BMC Pulm Med (2018)

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

Autor 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
Vydáno v Multidiscip Respir Med (2018)