Sfoglia per Autore
Antiepileptic effects of botulinum neurotoxin E
2005 L. Costantin, Y. Bozzi, C. Richichi, A. Viegi, F. Antonucci, M. Funicello, M. Gobbi, T. Mennini, O. Rossetto, C. Montecucco, L. Maffei, A. Vezzani, M. Caleo
Action of botulinum neurotoxins in the central nervous system: Antiepileptic effects
2006 Y. Bozzi, L. Costantin, F. Antonucci, M. Caleo
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
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
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
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
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
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
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
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
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
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
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