IRIS

SEBASTIO, GIANFRANCO

SEBASTIO, GIANFRANCO  

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

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Titolo Tipologia Data di pubblicazione Autore(i) File
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
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.
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
Lysinuric protein intolerance: Possible genetic heterogeneity? 1.1 Articolo in rivista 1981 Andria, Generoso; Sebastio, Gianfranco; Strisciuglio, Pietro; DEL GIUDICE, Ennio
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
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.
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
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.
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'