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Titolo Tipologia Data di pubblicazione Autore(i) File
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'
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
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 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
Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. 1.1 Articolo in rivista 2007 Sperandeo, Mp; Andria, Generoso; Sebastio, Gianfranco
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I 1.1 Articolo in rivista 2007 Melis, Daniela; Pivonello, Rosario; Parenti, Giancarlo; DELLA CASA, Roberto; Salerno, Mariacarolina; Lombardi, Gaetano; Sebastio, Gianfranco; Colao, Annamaria; Andria, Generoso
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, Maria; 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
Growth hormone deficiency in a patient with lysinuric protein intolerance. 1.1 Articolo in rivista 2006 Esposito, V.; Lettiero, Teresa; Fecarotta, S.; Sebastio, Gianfranco; Parenti, Giancarlo; Salerno, Mariacarolina
Health implications of homocysteine and folates: possible preventive measures. 1.1 Articolo in rivista 2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
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
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
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
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene 1.1 Articolo in rivista 2005 Sperandeo, Mp1; Annunziata, P; Ammendola, V; Fiorito, V; Pepe, A; Soldovieri, Mv; Taglialatela, M; Andria, G; Sebastio, G.
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. 1.1 Articolo in rivista 2004 Santamaria, Francesca; Brancaccio, G; Parenti, Giancarlo; Francalanci, P; Squitieri, C; Sebastio, Gianfranco; DIONISI VICI, C; D'Argenio, P; Andria, Generoso; Parisi, F.
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
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.
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
The molecular bases of cystinuria and lysinuric protein intolerance 1.1 Articolo in rivista 2001 Palacin, M.; Borsani, G.; Sebastio, Gianfranco
Mostrati risultati da 1 a 20 di 44
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