SEBASTIO, GIANFRANCO
SEBASTIO, GIANFRANCO
DIPARTIMENTO DI PEDIATRIA (attivo dal 01/04/1987 al 31/12/2012)
The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations
1995 Sebastio, Gianfranco; Sperandeo, Mp; Panico, M; DE FRANCHIS, R; KRAUS JP ANDRIA, G.
SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family.
1999 Bassi, Mt; Sperandeo, Mp; Andria, G; Borsani, G; Sebastio, Gianfranco
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report.
1999 Sperandeo, Mp; Buoninconti, A; Passariello, A; Scala, I; Adami, A; Lauteala, T; Mykkanen, J; 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
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
Spina bifida, 677C->T mutation, and role of folate
1995 DE FRANCHIS, R; Sebastio, Gianfranco; Mandato, C; Andria, G; Mastroiacovo, P.
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria
2007 R., Genesio; A., Conti; Fabbrini, Floriana; P., Tedeschi; M., Ferrara; D., Melis; Sebastio, Gianfranco; R., Ciccone; O., Zuffardi; Nitsch, Lucio
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
2007 Vyletal, P; Sokolov, J; Cooper, Dn; Kraus, Jp; Krawczak, M; Pepe, G; Rickards, O; Koch, Hg; Linnebank, M; Kluijtmans, La; Blom, Hj; Boers, Gh; Gaustadnes, M; Skovby, F; Wilcken, B; Wilcken, De; Andria, Generoso; Sebastio, Gianfranco; Naughten, Er; Yap, S; Ohura, T; Pronicka, E; Laszlo, A; Kozich, V.
Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
2004 Titomanlio, Luigi; DE BRASI, Daniele; Buoninconti, A; Sperandeo, Mp; Pepe, A; Andria, Generoso; 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
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| The molecular basis of homocystinuria due to cystathionine ß-synthase deficiency in Italian families and report of four novel mutations | 1.1 Articolo in rivista | 1995 | Sebastio, Gianfranco; Sperandeo, Mp; Panico, M; DE FRANCHIS, R; KRAUS JP ANDRIA, G. | |
| SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. | 1.1 Articolo in rivista | 1999 | Bassi, Mt; Sperandeo, Mp; Andria, G; Borsani, G; Sebastio, Gianfranco | |
| Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. | 1.1 Articolo in rivista | 1999 | Sperandeo, Mp; Buoninconti, A; Passariello, A; Scala, I; Adami, A; Lauteala, T; Mykkanen, J; 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 | |
| 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 | |
| Spina bifida, 677C->T mutation, and role of folate | 1.1 Articolo in rivista | 1995 | DE FRANCHIS, R; Sebastio, Gianfranco; Mandato, C; Andria, G; Mastroiacovo, P. | |
| A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria | 8.02 Comunicazioni a Convegni o Seminari | 2007 | R., Genesio; A., Conti; Fabbrini, Floriana; P., Tedeschi; M., Ferrara; D., Melis; Sebastio, Gianfranco; R., Ciccone; O., Zuffardi; Nitsch, Lucio | |
| Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. | 1.1 Articolo in rivista | 2007 | Vyletal, P; Sokolov, J; Cooper, Dn; Kraus, Jp; Krawczak, M; Pepe, G; Rickards, O; Koch, Hg; Linnebank, M; Kluijtmans, La; Blom, Hj; Boers, Gh; Gaustadnes, M; Skovby, F; Wilcken, B; Wilcken, De; Andria, Generoso; Sebastio, Gianfranco; Naughten, Er; Yap, S; Ohura, T; Pronicka, E; Laszlo, A; Kozich, V. | |
| Alstrom syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene. | 1.1 Articolo in rivista | 2004 | Titomanlio, Luigi; DE BRASI, Daniele; Buoninconti, A; Sperandeo, Mp; Pepe, A; Andria, Generoso; 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 |