IRIS

SEBASTIO, GIANFRANCO

SEBASTIO, GIANFRANCO  

DIPARTIMENTO DI PEDIATRIA (attivo dal 01/04/1987 al 31/12/2012)  

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Risultati 1 - 20 di 44 (tempo di esecuzione: 0.022 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Holt-Oram syndrome associated with anomalies of the feet 1.1 Articolo in rivista 2008 Garavelli, L.; DE BRASI, Daniele; Verri, R.; Guareschi, E; Cariola, F.; Melis, D.; Calcagno, Giuseppe; Salvatore, Francesco; Unger, S.; Sebastio, Gianfranco; Albertini, G.; Rivieri, F.; Soli, F.; Superti Furga, A; Gentile, M.
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene 1.1 Articolo in rivista 1997 Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, Giancarlo; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, Generoso
Spina bifida and folate-related genes: a study of gene-gene interactions. 1.1 Articolo in rivista 2002 DE FRANCHIS, R; Botto, Ld; Sebastio, Gianfranco; Ricci, R; Iolascon, A; Capra, V; Andria, G; Mastroiacovo, P.
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 1.1 Articolo in rivista 2000 Dall'Asta, V; Bussolati, O; Sebastio, Gianfranco; Andria, G; Gazzola, Gc
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 1.1 Articolo in rivista 1999 DE FRANCHIS, R; Kraus, E; Kozich, V; Sebastio, Gianfranco; Kraus, Jp
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 1.1 Articolo in rivista 1995 Parenti, G; Sebastio, Gianfranco; Strisciuglio, Pietro; Incerti, B; Pecoraro, C; Terracciano, L; Andria, G.
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 1.1 Articolo in rivista 1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 1.1 Articolo in rivista 2000 Sperandeo, Mp; Bassi, Mt; Riboni, M; Parenti, Giancarlo; Buoninconti, A; Manzoni, M; Incerti, B; Larocca, Mr; DI ROCCO, M; Strisciuglio, Pietro; Dianzani, I; Parini, R; Candito, M; Endo, F; Ballabio, Andrea; Andria, Generoso; Sebastio, Gianfranco; Borsani, G.
Health implications of homocysteine and folates: possible preventive measures. 1.1 Articolo in rivista 2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. 1.1 Articolo in rivista 2005 Sperandeo, Mp; Annunziata, P; Ammendola, V; Fiorito, V; Pepe, A; Soldovieri, Mv; Taglialatela, Maurizio; Andria, Generoso; Sebastio, Gianfranco
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 1.1 Articolo in rivista 2004 Santamaria, Francesca; Brancaccio, G; Parenti, Giancarlo; Francalanci, P; Squitieri, C; Sebastio, Gianfranco; DIONISI VICI, C; D'Argenio, P; Andria, Generoso; Parisi, F.
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 1.1 Articolo in rivista 2006 Scala, Iris; Granese, B; Sellitto, M; Salom, S; Sammartino, A; Pepe, A; Mastroiacovo, P; Sebastio, Gianfranco; Andria, Generoso
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman. 1.1 Articolo in rivista 2008 Giuseppe, Limongelli; Giuseppe, Pacileo; Melis, Daniela; Paolo, Calabro'; Maria Cristina, Digilio; Anna, Sarkozy; Valeria, Maddaloni; Giovanni, Capozzi; Sebastio, Gianfranco; Andria, Generoso; Raffaele, Calabro'
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. 1.1 Articolo in rivista 2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance 1.1 Articolo in rivista 1999 Borsani, G; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A; Sebastio, Gianfranco
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 1.1 Articolo in rivista 2000 Sperandeo, Mp; Bassi, Mt; Andria, G; Sebastio, Gianfranco; Borsani, G.
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 1.1 Articolo in rivista 2000 Boyd, Ca; Deves, R; Laynes, R; Kudo, Y; Sebastio, Gianfranco
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 1.1 Articolo in rivista 1996 Santamaria, F; Parenti, G; Guidi, G; Rotondo, A; Grillo, G; LA ROCCA, Mr; Celentano, L; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, G.
Genetic homogeneity of lysinuric protein intolerance 1.1 Articolo in rivista 1998 Lauteala, T; Mykkanen, J; Sperandeo, Mp; Gasparini, P; Savontaus, Ml; Simell, O; Andria, G; Sebastio, Gianfranco; Aula, P.
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene. 1.1 Articolo in rivista 2002 Romano, M; Marcucci, R; Buratti, E; Ayala, Ym; Sebastio, Gianfranco; Baralle, Fe