Works by Seia, Manuela

Results: 32

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

Published in:

Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 5, p. 461, doi. 10.1007/s10815-011-9540-x

By:

Paffoni, Alessio;
Paracchini, Valentina;
Ferrari, Stefania;
Scarduelli, Claudia;
Seia, Manuela;
Coviello, Domenico;
Ragni, Guido

Publication type:

Article

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.

Published in:

Human Mutation, 2000, v. 16, n. 6, p. 532, doi. 10.1002/1098-1004(200012)16:6<532::AID-HUMU20>3.0.CO;2-E

By:

Seia, Manuela;
Cantù-Rajnoldi, Angelo;
Ambrosioni, Antonella;
Fiori, Sabrina;
Bassotti, Alessandra;
Pizzamiglio, G.;
Giunta, Annamaria;
Padoan, Rita

Publication type:

Article

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.

Published in:

Human Mutation, 2000, v. 16, n. 3, p. 279, doi. 10.1002/1098-1004(200009)16:3<279::AID-HUMU31>3.0.CO;2-#

By:

Seia, Manuela;
Cantù-Rajnoldi, Angelo;
Ambrosioni, Antonella;
Fiori, Sabrina;
Prandoni, Silvia;
Corbetta, Carlo;
Bassotti, Alessandra;
Moretti, Elena;
Giunta, Annamaria;
Padoan, Rita

Publication type:

Article

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.

Published in:

Vascular & Endovascular Surgery, 2017, v. 51, n. 3, p. 141, doi. 10.1177/1538574417692114

By:

Cortini, Francesca;
Marinelli, Barbara;
Romi, Silvia;
Seresini, Agostino;
Pesatori, Angela Cecilia;
Seia, Manuela;
Montano, Nicola;
Bassotti, Alessandra

Publication type:

Article

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations.

Published in:

2002

By:

Padoan, Rita;
Bassotti, Alessandra;
Seia, Manuela;
Corbetta, Carlo

Publication type:

journal article

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1230, doi. 10.1038/sj.ejhg.5201908

By:

Degiorgio, Dario;
Colombo, Carla;
Seia, Manuela;
Porcaro, Luigi;
Costantino, Lucy;
Zazzeron, Laura;
Bordo, Domenico;
Coviello, Domenico A.

Publication type:

Article

Workload measurement for molecular genetics laboratory: A survey study.

Published in:

PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206855

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;
null, null

Publication type:

Article

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

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060448

By:

Amato, Felice;
Seia, Manuela;
Giordano, Sonia;
Elce, Ausilia;
Zarrilli, Federica;
Castaldo, Giuseppe;
Tomaiuolo, Rossella

Publication type:

Article

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

Published in:

Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0143-6

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.

Publication type:

Article

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

Published in:

Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0142-7

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

Publication type:

Article

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

Published in:

Multidisciplinary Respiratory Medicine, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s40248-018-0141-8

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

Publication type:

Article

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Published in:

2016

By:

Cilia, Roberto;
Tunesi, Sara;
Marotta, Giorgio;
Cereda, Emanuele;
Siri, Chiara;
Tesei, Silvana;
Zecchinelli, Anna L.;
Canesi, Margherita;
Mariani, Claudio B.;
Meucci, Nicoletta;
Sacilotto, Giorgio;
Zini, Michela;
Barichella, Michela;
Magnani, Corrado;
Duga, Stefano;
Asselta, Rosanna;
Soldà, Giulia;
Seresini, Agostino;
Seia, Manuela;
Pezzoli, Gianni

Publication type:

journal article

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

Published in:

2012

By:

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

Publication type:

Journal Article

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

Published in:

Journal of Biomedicine & Biotechnology, 2012, v. 2012, p. 1, doi. 10.1155/2012/575471

By:

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

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 633, doi. 10.1038/ejhg.2013.214

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

Publication type:

Article

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries.

Published in:

Annals of Human Genetics, 2010, v. 74, n. 5, p. 463, doi. 10.1111/j.1469-1809.2010.00591.x

By:

Ramos, María D.;
Masvidal, Laia;
Giménez, Javier;
Bieth, Eric;
Seia, Manuela;
Georges, Marie des;
Armengol, Lluís;
Casals, Teresa

Publication type:

Article

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene.

Published in:

American Journal of Respiratory Cell & Molecular Biology, 2013, v. 48, n. 5, p. 619, doi. 10.1165/rcmb.2012-0371OC

By:

Costantino, Lucy;
Rusconi, Damiana;
Soldà, Giulia;
Seia, Manuela;
Paracchini, Valentina;
Porcaro, Luigi;
Asselta, Rosanna;
Colombo, Carla;
Duga, Stefano

Publication type:

Article

Full COLD-PCR Protocol for Noninvasive Prenatal Diagnosis of Genetic Diseases.

Published in:

Clinical Chemistry, 2011, v. 57, n. 1, p. 136, doi. 10.1373/clinchem.2010.155671

By:

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

Publication type:

Article

Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.

Published in:

European Archives of Psychiatry & Clinical Neuroscience, 2023, v. 273, n. 2, p. 347, doi. 10.1007/s00406-022-01472-y

By:

Tabano, Silvia;
Tassi, Lorenzo;
Cannone, Marta Giulia;
Brescia, Gloria;
Gaudioso, Gabriella;
Ferrara, Mariarosa;
Colapietro, Patrizia;
Fontana, Laura;
Miozzo, Monica Rosa;
Croci, Giorgio Alberto;
Seia, Manuela;
Piuma, Cristina;
Solbiati, Monica;
Tobaldini, Eleonora;
Ferrero, Stefano;
Montano, Nicola;
Costantino, Giorgio;
Buoli, Massimiliano

Publication type:

Article

Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene.

Published in:

Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 9, p. 1051, doi. 10.1515/CCLM.2009.262

By:

Mari, Caterina;
Bruno, Francesca;
Galbiati, Silvia;
Torri, Anna;
Lombardo, Federica;
Seia, Manuela;
Ferrari, Maurizio;
Restagno, Gabriella;
Cremonesi, Laura

Publication type:

Article

High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma.

Published in:

Clinical Chemistry & Laboratory Medicine, 2009, v. 47, n. 7, p. 818, doi. 10.1515/CCLM.2009.187

By:

Bruno, Francesca;
Damin, Francesco;
Causarano, Vincenza;
Galbiati, Silvia;
Di Carlo, Gabriele;
Seia, Manuela;
Porcaro, Luigi;
Ferrari, Maurizio;
Chiari, Marcella;
Cremonesi, Laura

Publication type:

Article

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

Published in:

Journal of Cellular & Molecular Medicine, 2014, v. 18, n. 8, p. 1631, doi. 10.1111/jcmm.12303

By:

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

Publication type:

Article

Hb Mozhaisk [β92(F8)His→Arg; HBB : c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.

Published in:

Hemoglobin, 2017, v. 41, n. 4-6, p. 314, doi. 10.1080/03630269.2017.1412983

By:

Benzoni, Elena;
Giannone, Valentina;
Michetti, Laura;
Seia, Manuela;
Cavalleri, Laura;
Curcio, Cristina

Publication type:

Article

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

Published in:

2016

By:

Cortini, Francesca;
Marinelli, Barbara;
Seia, Manuela;
De Giorgio, Barbara;
Pesatori, Angela Cecilia;
Montano, Nicola;
Bassotti, Alessandra

Publication type:

Case Study

Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns.

Published in:

Acta Paediatrica, 2006, v. 95, n. 7, p. 871, doi. 10.1080/08035250500516649

By:

Padoan, Rita;
Corbetta, Carlo;
Bassotti, Alessandra;
Seia, Manuela

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00131

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

Publication type:

Article

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

Published in:

Stem Cells International, 2018, p. 1, doi. 10.1155/2018/1203717

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

Publication type:

Article

An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 778, doi. 10.1002/ajmg.a.33870

By:

Castellani, Carlo;
Perobelli, Sandra;
Bianchi, Vera;
Seia, Manuela;
Melotti, Paola;
Zanolla, Luisa;
Assael, Baroukh Maurice;
Lalatta, Faustina

Publication type:

Article

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 486, doi. 10.1002/(SICI)1098-1004(200005)15:5<486::AID-HUMU25>3.0.CO;2-S

By:

Padoan, Rita;
Costantini, Diana;
Russo, Maria Chiara;
Ambrosioni, Antonella;
Fiori, Sabrina;
Prandoni, Silvia;
Cantù-Rajnoldi, Angelo;
Seia, Manuela;
Giunta, Annamaria

Publication type:

Article

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 485, doi. 10.1002/(SICI)1098-1004(200005)15:5<485::AID-HUMU22>3.0.CO;2-3

By:

Padoan, Rita;
Bassotti, Alessandra;
Seia, Manuela;
Ambrosioni, Antonella;
Fiori, Sabrina;
Prandoni, Silvia;
Rajnoldi, Angelo Cantù;
Giunta, Annamaria;
Corbetta, Carlo

Publication type:

Article

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.

Published in:

Human Mutation, 1992, v. 1, n. 4, p. 314, doi. 10.1002/humu.1380010409

By:

Cremonesi, Laura;
Ferrari, Maurizio;
Belloni, Elena;
Magnani, Carmelina;
Seia, Manuela;
Ronchetto, Patrizia;
Rady, Magdy;
Russo, Maria Pia;
Romeo, Giovanni;
Devoto, Marcella

Publication type:

Article

Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, p. 1, doi. 10.1186/s13052-017-0430-4

By:

Bevivino, Annamaria;
Coiana, Alessandra;
Fogazzi, Annalisa;
Timelli, Fabiana;
Signorini, Sandra;
Lucarelli, Marco;
Morelli, Patrizia;
Padoan, Rita;
Giordani, Barbara;
Amato, Annalisa;
Majo, Fabio;
Ferrari, Gianluca;
Quattrucci, Serena;
Minicucci, Laura;
Floridia, Giovanna;
Fornaro, Gianna Puppo;
Taruscio, Domenica;
Salvatore, Marco;
Seia, Manuela;
Pierandrei, Silvia

Publication type:

Article