COSTANTINO, LUCY
COSTANTINO, LUCY
Universita' degli Studi di MILANO
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology
2017 M. Lucarelli, L. Porcaro, A. Biffignandi, L. Costantino, V. Giannone, L. Alberti, S.M. Bruno, C. Corbetta, E. Torresani, C. Colombo, M. Seia
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
2014 D. Degiorgio, P.A. Corsetto, A.M. Rizzo, C. Colombo, M. Seia, L. Costantino, G. Montorfano, R. Tomaiuolo, D. Bordo, S. Sansanelli, M. Li, D. Tavian, M.P. Rastaldi, D.A. Coviello
Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene
2013 L. Costantino, D. Rusconi, G. Soldà, M. Seia, V. Paracchini, L. Porcaro, R. Asselta, C. Colombo, S. Duga
Two ABCB4 mutations involving two strategic NBD-motifs do not prevent the targeting to the plasma membrana but promote MDR3 dysfunction
2012 D. Degiorgio, P.A. Corsetto, A.M. Rizzo, C. Colombo, M. Seia, L. Costantino, G. Montorfano, L. Castellano, A. Ragozzino, G. Castaldo, M.P. Rastaldi, D.A. Coviello
Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates
2012 V. Paracchini, M. Seia, S. Raimondi, L. Costantino, P. Capasso, L. Porcaro, C. Colombo, D.A. Coviello, T. Mariani, E. Manzoni, M. Sangiovanni, C. Corbetta
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysis
2011 L. Costantino, D. Rusconi, L. Claut, C. Colombo, F. Novara, V. Paracchini, L. Porcaro, P. Capasso, O. Zuffardi, M. Seia
A qualitative characterization of the CFTR gene by mRNA analysis
2008 L. Costantino, V. Paracchini, L. Porcaro, M. Di Cicco, A. Monti, L. Claut, P. Capasso, D. Degiorgio, D. Coviello, C. Colombo, M. Seia
Molecular strategy in hyperechogenic fetal bowel
2008 V. Paracchini, D. Coviello, L. Costantino, L. Porcaro, P. Capasso, D. Degiorgio, M.C. Russo, C. Colombo, M. Seia
A diagnostic approach for characterization of the CFTR gene defects by mRNA analysis
2008 L. Porcaro, L. Costantino, V. Paracchini, D. Coviello, L.E. Claut, M. Di Cicco, A. Monti, P. Capasso, D. Degiorgio, C. Colombo, M. Seia
Role of ABCB4 gene in liver diseases
2008 D. Degiorgio, G. Maggiore, P. Vajro, P.M. Battezzati, A. Crosignani, L. Costantino, M. Antelmi, V. Motta, B. Acaia, D.A. Coviello, C. Colombo
Utility and limits of molecular genetic analysis in subjects with borderline values of sweat test
2008 M. Seia, D. Magazzu, V. Paracchini, L. Costantino, L. Porcaro, V. Consalvo, P. Capasso, D. Degiorgio, D. Costantini, D. Coviello, E. Torresani, C. Colombo, L. Claut
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
2008 V. Paracchini, M. Seia, D. Coviello, L. Porcaro, L. Costantino, P. Capasso, D. Degiorgio, R. Padoan, C. Corbetta, L. Claut, D. Costantini, C. Colombo
Mutations of ABCB4 gene in children with progressive familial intrahepatic cholestasis (PFIC): a multicenter Italian study
2007 C. Colombo, P. Vajro, R. Iorio, E. Castellano, M.G. Marazzi, S. Martelossi, L. Costantino, D. De Giorgio, G. Maggiore
Molecular and clinical features associated with CFTR gene rearrangements in Italian population : identification of a new duplication and recurrent deletions
2007 L. Costantino, D. Coviello, V. Paracchini, L. Porcaro, P. Capasso, D. Degiorgio, R. Padoan, L. Claut, D. Costantini, C. Colombo, M. Seia
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
2007 D. Degiorgio, C. Colombo, M. Seia, L. Porcaro, L. Costantino, L. Zazzeron, D. Bordo, D.A. Coviello
ABCB4 molecular characterization in patients with intrahepatic cholestasis of pregnancy (ICP) : is high serum gamma-glutamyltranspeptidase (gammaGT) level a marker for unambiguous genetic deficiency?
2007 D. Degiorgio, B. Acaia, C. Colombo, S. Saino, M. Seia, L. Porcaro, V. Paracchini, L. Costantino, D.A. Coviello
Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) : evidence of allelic heterogeneity and of a possible evolutionary marker for mammalian ABCB4 genes
2007 D. Degiorgio, C. Colombo, M. Seia, L. Porcaro, V. Paracchini, L. Costantino, L. Zazzeron, D. Bordo, D.A. Coviello
Large CFTR gene rearrangements in Italian population
2007 V. Paracchini, L. Porcaro, L. Costantino, P. Capasso, D. Degiorgio, D. Coviello, C. Colombo, L. Claut, R. Padoan, M. Seia
Description of large CFTR gene rearrangements in Italian population
2007 V. Paracchini, C. Colombo, L. Porcaro, L. Costantino, P. Capasso, D. Degiorgio, D. Coviello, L. Claut, R. Padoan, M. Seia
Phenotypic heterogeneity in compound heterozygotes for the L997F sequence variant : the two extremes of the spectrum?
2007 L. Porcaro, D. Coviello, L. Costantino, V. Paracchini, P. Capasso, D. Degiorgio, R. Gagliardini, M. Russo, C. Colombo, M. Seia