SEBASTIO, GIANFRANCO
SEBASTIO, GIANFRANCO
DIPARTIMENTO DI PEDIATRIA (attivo dal 01/04/1987 al 31/12/2012)
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.
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.
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods
1996 Santamaria, F; Parenti, G; Guidi, G; Rotondo, A; Grillo, G; La Rocca, Mr; Celentano, L; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, G.
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
Case of Myhre syndrome with autism and peculiar skin histological findings
2001 Titomanlio, L; Marzano, Mg; Rossi, E; D'Armiento, M; De Brasi, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, Lucio; Sebastio, Gianfranco
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.
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
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
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.
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
The molecular bases of cystinuria and lysinuric protein intolerance
2001 Palacin, M.; Borsani, G.; Sebastio, Gianfranco
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
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
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
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
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
Health implications of homocysteine and folates: possible preventive measures.
2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
Regulation of 3' splice site selection in the 844ins68 polymorphism of the cystathionine Beta -synthase gene.
2002 Romano, M; Marcucci, R; Buratti, E; Ayala, Ym; Sebastio, Gianfranco; Baralle, Fe
Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions
1996 Sebastio, Gianfranco; Perone, L.; Guzzetta, V.; Sebastio, L.; Vicari, I.; DELLA CASA, Roberto; Gurrieri, F.; Zappata, S.; Pomponio, M. G.; Mazzei, A.; Neri, G.; Andria, Generoso
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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. | |
| 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. | |
| 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. | |
| 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 | |
| Case of Myhre syndrome with autism and peculiar skin histological findings | 1.1 Articolo in rivista | 2001 | Titomanlio, L; Marzano, Mg; Rossi, E; D'Armiento, M; De Brasi, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, Lucio; Sebastio, Gianfranco | |
| 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. | |
| 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 | |
| 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. | |
| 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 | |
| The molecular bases of cystinuria and lysinuric protein intolerance | 1.1 Articolo in rivista | 2001 | Palacin, M.; Borsani, G.; Sebastio, Gianfranco | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Health implications of homocysteine and folates: possible preventive measures. | 1.1 Articolo in rivista | 2005 | Andria, Generoso; Scala, Iris; Sebastio, Gianfranco | |
| 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 | |
| Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions | 1.1 Articolo in rivista | 1996 | Sebastio, Gianfranco; Perone, L.; Guzzetta, V.; Sebastio, L.; Vicari, I.; DELLA CASA, Roberto; Gurrieri, F.; Zappata, S.; Pomponio, M. G.; Mazzei, A.; Neri, G.; Andria, Generoso |