SEBASTIO, GIANFRANCO
SEBASTIO, GIANFRANCO
DIPARTIMENTO DI PEDIATRIA (attivo dal 01/04/1987 al 31/12/2012)
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring.
2006 Scala, Iris; Granese, B; Sellitto, M; Salom, S; Sammartino, A; Pepe, A; Mastroiacovo, P; Sebastio, Gianfranco; Andria, Generoso
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
2005 Sperandeo, Mp; Paladino, S; Maiuri, L; Maroupulos, Gd; Zurzolo, Chiara; Taglialatela, M; Andria, Generoso; Sebastio, Gianfranco
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
2005 Rossi, M; DE BRASI, Daniele; Hall, Cm; Battagliese, A; Melis, Daniela; Sebastio, Gianfranco; Andria, Generoso
Health implications of homocysteine and folates: possible preventive measures.
2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects.
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
1999 DE FRANCHIS, R; Kraus, E; Kozich, V; Sebastio, Gianfranco; Kraus, Jp
Spina bifida and folate-related genes: a study of gene-gene interactions.
2002 DE FRANCHIS, R; Botto, Ld; Sebastio, Gianfranco; Ricci, R; Iolascon, A; Capra, V; Andria, G; Mastroiacovo, P.
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome
1998 Sperandeo, Mp; Borsani, G; Incerti, B; Zollo, Massimo; Rossi, E; Zuffardi, O; Castaldo, P; Taglialatela, M; Sebastio, Gianfranco
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course
1995 Parenti, G; Sebastio, Gianfranco; Strisciuglio, Pietro; Incerti, B; Pecoraro, C; Terracciano, L; Andria, G.
Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
1997 Guzzetta, V; Bonapace, G; Dianzani, I; Parenti, Giancarlo; Lecora, M; Giannattasio, S; Concolino, D; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, Generoso
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.
2004 Santamaria, Francesca; Brancaccio, G; Parenti, Giancarlo; Francalanci, P; Squitieri, C; Sebastio, Gianfranco; DIONISI VICI, C; D'Argenio, P; Andria, Generoso; Parisi, F.
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
2005 Sperandeo, Mp; Annunziata, P; Ammendola, V; Fiorito, V; Pepe, A; Soldovieri, Mv; Taglialatela, Maurizio; Andria, Generoso; Sebastio, Gianfranco
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old woman.
2008 Giuseppe, Limongelli; Giuseppe, Pacileo; Melis, Daniela; Paolo, Calabro'; Maria Cristina, Digilio; Anna, Sarkozy; Valeria, Maddaloni; Giovanni, Capozzi; Sebastio, Gianfranco; Andria, Generoso; Raffaele, Calabro'
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.
2001 DE BRASI, Daniele; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, Luigi; Farina, Vincenzo; Andria, Generoso; Sebastio, Gianfranco
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form
1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
1999 Borsani, G; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A; Sebastio, Gianfranco
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance.
2000 Boyd, Ca; Deves, R; Laynes, R; Kudo, Y; Sebastio, Gianfranco
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
2000 Sperandeo, Mp; Bassi, Mt; Andria, G; Sebastio, Gianfranco; Borsani, G.
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
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.
Genetic homogeneity of lysinuric protein intolerance
1998 Lauteala, T; Mykkanen, J; Sperandeo, Mp; Gasparini, P; Savontaus, Ml; Simell, O; Andria, G; Sebastio, Gianfranco; Aula, P.
Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
---|---|---|---|---|
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 | |
A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. | 1.1 Articolo in rivista | 2005 | Sperandeo, Mp; Paladino, S; Maiuri, L; Maroupulos, Gd; Zurzolo, Chiara; Taglialatela, M; Andria, Generoso; Sebastio, Gianfranco | |
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). | 1.1 Articolo in rivista | 2005 | Rossi, M; DE BRASI, Daniele; Hall, Cm; Battagliese, A; Melis, Daniela; Sebastio, Gianfranco; Andria, Generoso | |
Health implications of homocysteine and folates: possible preventive measures. | 1.1 Articolo in rivista | 2005 | Andria, Generoso; Scala, Iris; Sebastio, Gianfranco | |
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 | |
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. | |
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome | 1.1 Articolo in rivista | 1998 | Sperandeo, Mp; Borsani, G; Incerti, B; Zollo, Massimo; Rossi, E; Zuffardi, O; Castaldo, P; Taglialatela, M; Sebastio, Gianfranco | |
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. | |
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 | |
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. | |
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 | |
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' | |
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. | 1.1 Articolo in rivista | 2001 | DE BRASI, Daniele; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, Luigi; Farina, Vincenzo; Andria, Generoso; Sebastio, Gianfranco | |
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 | |
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 | |
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 | |
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. | |
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. | |
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. |