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

por Amato, Felice, Seia, Manuela, Giordano, Sonia, Elce, Ausilia, Zarrilli, Federica, Castaldo, Giuseppe, Tomaiuolo, Rossella
Publicado em 2013

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

por Galbiati, Silvia, Brisci, Angela, Lalatta, Faustina, Seia, Manuela, Makrigiorgos, G. Mike, Ferrari, Maurizio, Cremonesi, Laura
Publicado em 2010

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

por Paffoni, Alessio, Paracchini, Valentina, Ferrari, Stefania, Scarduelli, Claudia, Seia, Manuela, Coviello, Domenico A., Ragni, Guido
Publicado em 2011

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

por Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
Publicado no 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...

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

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

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

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

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

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

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

por Manzoni, Martina, Pompa, Alessandra, Fabris, Sonia, Pelizzoni, Francesca, Ciceri, Gabriella, Seia, Manuela, Ziccheddu, Bachisio, Bolli, Niccolò, Corradini, Paolo, Baldini, Luca, Neri, Antonino, Lionetti, Marta
Publicado no Hemasphere (2020)

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

por 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
Publicado em 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

por 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
Publicado no Stem Cells Int (2018)

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

por 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.
Publicado no Multidiscip Respir Med (2018)

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

por 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
Publicado em 2014

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

por 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
Publicado em 2014

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

por 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
Publicado em 1988

Workload measurement for molecular genetics laboratory: A survey study

por 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
Publicado no PLoS One (2018)

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

por 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
Publicado no Kidney Int Rep (2021)

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

por 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
Publicado no Multidiscip Respir Med (2018)

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

por 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
Publicado no BMC Pulm Med (2018)

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

por 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
Publicado no Multidiscip Respir Med (2018)