IRIS

SEBASTIO, GIANFRANCO

SEBASTIO, GIANFRANCO  

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

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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-gen-1996 Sperandeo, Mp; DE FRANCHIS, R; Andria, G; Sebastio, Gianfranco
A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria 1-gen-2007 R., Genesio; A., Conti; Fabbrini, Floriana; P., Tedeschi; M., Ferrara; D., Melis; Sebastio, Gianfranco; R., Ciccone; O., Zuffardi; Nitsch, Lucio
A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form). 1-gen-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-gen-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-gen-2004 Titomanlio, Luigi; DE BRASI, Daniele; Buoninconti, A; Sperandeo, Mp; Pepe, A; Andria, Generoso; Sebastio, Gianfranco
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 1-gen-2006 Scala, Iris; Granese, B; Sellitto, M; Salom, S; Sammartino, A; Pepe, A; Mastroiacovo, P; Sebastio, Gianfranco; Andria, Generoso
Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. 1-gen-2000 Dall'Asta, V; Bussolati, O; Sebastio, Gianfranco; Andria, G; Gazzola, Gc
Case of Myhre syndrome with autism and peculiar skin histological findings 1-gen-2001 Titomanlio, L; Marzano, Mg; Rossi, E; D'Armiento, M; De Brasi, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, Lucio; Sebastio, Gianfranco
Case of Myhre syndrome with autism and peculiar skin histological findings. 1-gen-2001 Titomanlio, L; Marzano, Mg; Rossi, E; D'Armiento, Maria; De Brasi, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, L; Sebastio, Gianfranco
Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. 1-gen-2000 Boyd, Ca; Deves, R; Laynes, R; Kudo, Y; Sebastio, Gianfranco
Deletions of the steroid sulphatase gene in "classical" X-linkedichthyosis and in X-linked ichthyosis associated with Kallmann syndrome 1-gen-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-gen-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.
Early detection of lung involvement in lysinuric protein intolerance: role of high resolution computed tomography and radioisotopic methods 1-gen-1996 Santamaria, F; Parenti, G; Guidi, G; Rotondo, A; Grillo, G; LA ROCCA, Mr; Celentano, L; Strisciuglio, Pietro; Sebastio, Gianfranco; Andria, G.
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 1-gen-1999 Sperandeo, Maria Pia; Buoninconti, Anna; Passariello, Annalisa; Scala, Iris; Adami, Andrea; Lauteala, Tuija; Mykkänen, Juha; Andria, Generoso; Sebastio, Gianfranco
Feasibility of prenatal diagnosis of lysinuric protein intolerance: a case report. 1-gen-1999 Sperandeo, Mp; Buoninconti, A; Passariello, A; Scala, I; Adami, A; Lauteala, T; Mykkanen, J; Sebastio, Gianfranco
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype 1-gen-1999 DE FRANCHIS, R; Kraus, E; Kozich, V; Sebastio, Gianfranco; Kraus, Jp
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form 1-gen-1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo
Genetic homogeneity of lysinuric protein intolerance 1-gen-1998 Lauteala, T; Mykkanen, J; Sperandeo, Mp; Gasparini, P; Savontaus, Ml; Simell, O; Andria, G; Sebastio, Gianfranco; Aula, P.
Growth hormone deficiency in a patient with lysinuric protein intolerance. 1-gen-2006 Esposito, V.; Lettiero, Teresa; Fecarotta, S.; Sebastio, Gianfranco; Parenti, Giancarlo; Salerno, Mariacarolina
Health implications of homocysteine and folates: possible preventive measures. 1-gen-2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco