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: 0.027 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
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
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
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 1.1 Articolo in rivista 1987 Ballabio, Andrea; Sebastio, Gianfranco; Carrozzo, R; Parenti, Giancarlo; Piccirillo, A; Persico, Mg; Andria, Generoso
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.
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
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
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
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
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
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 68 bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine b-synthase mRNA 1.1 Articolo in rivista 1996 Sperandeo, Mp; DE FRANCHIS, R; Andria, G; 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.
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
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
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