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

著者: Amato, Felice, Seia, Manuela, Giordano, Sonia, Elce, Ausilia, Zarrilli, Federica, Castaldo, Giuseppe, Tomaiuolo, Rossella
出版事項 2013

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

著者: Galbiati, Silvia, Brisci, Angela, Lalatta, Faustina, Seia, Manuela, Makrigiorgos, G. Mike, Ferrari, Maurizio, Cremonesi, Laura
出版事項 2010

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

著者: Paffoni, Alessio, Paracchini, Valentina, Ferrari, Stefania, Scarduelli, Claudia, Seia, Manuela, Coviello, Domenico A., Ragni, Guido
出版事項 2011

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

著者: Cortini, Francesca, Marinelli, Barbara, Seia, Manuela, De Giorgio, Barbara, Pesatori, Angela Cecilia, Montano, Nicola, Bassotti, Alessandra
出版年 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...

著者: Faà, Valeria, Incani, Federica, Meloni, Alessandra, Corda, Denise, Masala, Maddalena, Baffico, A. Maria, Seia, Manuela, Cao, Antonio, Rosatelli, M. Cristina
出版事項 2009

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

著者: Sironi, Francesca, Primignani, Paola, Ricca, Sara, Tunesi, Sara, Zini, Michela, Tesei, Silvana, Cilia, Roberto, Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
出版事項 2013

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

著者: Carbone, Annalucia, Castellani, Stefano, Favia, Maria, Diana, Anna, Paracchini, Valentina, Di Gioia, Sante, Seia, Manuela, Casavola, Valeria, Colombo, Carla, Conese, Massimo
出版事項 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

著者: Paracchini, Valentina, Carbone, Annalucia, Colombo, Federico, Castellani, Stefano, Mazzucchelli, Silvia, Di Gioia, Sante, Degiorgio, Dario, Seia, Manuela, Porretti, Laura, Colombo, Carla, Conese, Massimo
出版事項 2012

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

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

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

著者: 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
出版事項 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

著者: 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
出版年 Stem Cells Int (2018)

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

著者: 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.
出版年 Multidiscip Respir Med (2018)

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

著者: 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
出版事項 2014

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

著者: 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
出版事項 2014

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

著者: 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
出版事項 1988

Workload measurement for molecular genetics laboratory: A survey study

著者: 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
出版年 PLoS One (2018)

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

著者: 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
出版年 Kidney Int Rep (2021)

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

著者: 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
出版年 Multidiscip Respir Med (2018)

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

著者: 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
出版年 BMC Pulm Med (2018)

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

著者: 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
出版年 Multidiscip Respir Med (2018)