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Mostrati risultati da 21 a 40 di 44
Titolo Tipologia Data di pubblicazione Autore(i) File
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
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 1.1 Articolo in rivista 2001 DE BRASI, Daniele; Rossi, E; Giglio, S; D'Agostino, A; Titomanlio, Luigi; Farina, Vincenzo; Andria, Generoso; 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, Maria; De Brasi, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, L; 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
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; Riboni, M; Parenti, Giancarlo; Buoninconti, A; Manzoni, M; Incerti, B; Larocca, Mr; DI ROCCO, M; Strisciuglio, Pietro; Dianzani, I; Parini, R; Candito, M; Endo, F; Ballabio, Andrea; Andria, Generoso; Sebastio, Gianfranco; Borsani, G.
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.
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
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
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
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
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
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: A case report 1.1 Articolo in rivista 1999 Sperandeo, Maria Pia; Buoninconti, Anna; Passariello, Annalisa; Scala, Iris; Adami, Andrea; Lauteala, Tuija; Mykkänen, Juha; 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.
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
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
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.
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
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
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.
Mostrati risultati da 21 a 40 di 44
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