Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM von Tavian, D., Missaglia, S., Castagnetta, M., Degiorgio, D., Pennisi, E.M., Coleman, R.A., Dell'Era, P., Mora, C., Angelini, C., Coviello, D.A.

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An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: A multicentre study von Tomaiuolo, R, Degiorgio, D, Coviello, D.A, Baccarelli, A, Elce, A, Raia, V, Motta, V, Seia, M, Castaldo, G, Colombo, C

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Clinical and genetic study of 46 Italian patients with primary lymphedema von Michelini, S, Degiorgio, D, Cestari, M, Corda, D, Ricci, M, Cardone, M, Mander, A, Famoso, L, Contini, E, Serrani, R, Pinelli, L, Cecchin, S, Bertelli, M

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A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum γ-GT von Tavian, D, Degiorgio, D, Roncaglia, N, Vergani, P, Cameroni, I, Colombo, R, Coviello, D.A

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Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions von Paracchini, V, Seia, M, Coviello, D, Porcaro, L, Costantino, L, Capasso, P, Degiorgio, D, Padoan, R, Corbetta, C, Claut, L, Costantini, D, Colombo, C

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858 ROLE OF ABCB4 GENE MUTATIONS IN HEPATOBILIARY DISEASES OF THE ADULT. THE EXPERIENCE OF A LIVER UNIT IN MILAN von Antelmi, M, Crosignani, A, Vassallo, E, Degiorgio, D, Coviello, D.A, Colombo, C, Zuin, M, Podda, M, Battezzati, P.M

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mRNA analysis of CFTR: a diagnostic approach von Costantino, L, Claut, L, Paracchini, V, Coviello, D.A, Colombo, C, Porcaro, L, Capasso, P, Degiorgio, D, Seia, M

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130 ROLE OF ABCB4 GENE IN LIVER DISEASES von Degiorgio, D, Maggiore, G, Vajro, P, Battezzati, P.M, Crosignani, A, Costantino, L, Antelmi, M, Motta, V, Acaia, B, Coviello, D.A, Colombo, C

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Molecular strategy in hyperechogenic fetal bowel von Paracchini, V, Coviello, D, Costantino, L, Porcaro, L, Capasso, P, Degiorgio, D, Russo, M.C, Colombo, C, Seia, M

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Cystic Fibrosis incidence in Lombardy over a seven year period von Paracchini, V, Seia, M, Raimondi, S, Porcaro, L, Costantino, L, Capasso, P, Degiorgio, D, Coviello, D, Colombo, C, Mariani, T, Corbetta, C

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Progressive familial intrahepatic cholestasis with high serum γ-glutamiltranspeptidase phenotype: Clinical features of patients with ABCB4 (MDR3) Gene mutations detected by an Ital... von Colombo, C, Vajro, P, Degiorgio, D, Balli, F, Zancan, L, Indolfi, G, Motta, V, Tornillo, L, Torre, G, Riva, S, Berardi, S, Castellano, E, Ferretti, E, Martelossi, S, Marazzi, M.G, Maggiore, G

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A QUALITATIVE CHARACTERIZATION OF THE CFTR GENE BY mRNA ANALYSIS von Costantino, L, Paracchini, V, Porcaro, L, Di Cicco, M, Monti, A, Claut, L, Capasso, P, Degiorgio, D, Coviello, D, Colombo, C, Seia, M

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6 Large CFTR gene rearrangements in Italian population von Paracchini, V, Porcaro, L, Costantino, L, Capasso, P, Degiorgio, D, Coviello, D, Colombo, C, Claut, L, Padoan, R, Seia, M

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Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss von Primignani, Paola, Trotta, Luca, Castorina, Pierangela, Lalatta, Faustina, Sironi, Francesca, Radaelli, Chiara, Degiorgio, Dario, Curcio, Cristina, Travi, Maurizio, Ambrosetti, Umberto, Cesarani, Antonio, Garavelli, Livia, Formigoni, Patrizia, Milani, Donatella, Murri, Alessandra, Cuda, Domenico, Coviello, Domenico Antonio

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Isolated short PR interval in adolescent athletes and non-athletes: Should we worry? von Abela, Mark, Grech, Neil, Degiorgio, Sophie, Grech, Victor, Adrian Sammut, Mark

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ROLE OF ABCB4 GENE MUTATIONS IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC): A MULTICENTER ITALIAN STUDY von Colombo, C, Degiorgio, D, Vajro, P, Balli, F, Torre, G, Resti, M, Coviello, D, Maggiore, G

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Vitamin D for the Treatment of Epilepsy: Basic Mechanisms, Animal Models and Clinical Trials von Kevin Pendo, Christopher Michael DeGiorgio, MD

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Performance Enhancement: A Young Athlete's Perspective von DeGiorgio, Danielle, DO, Gray, Jennifer M., DO

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Poster 545 Spinal Cord Infarct as the Presenting Symptom of Lupus: A Case Report von Engle, Jessica, Semel-Concepcion, Jennifer J., MD, DeGiorgio, Danielle, DO, Storetveit, Cindy, NP

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4 Molecular identification of complex alleles in the CFTR gene von Porcaro, L., Marchi, M., Capasso, P., Travi, M., Coviello, D., Degiorgio, D., Colombo, C., Romano, G., Claut, L., Padoan, R., Seia, M.

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