IRIS

ANDRIA, GENEROSO

ANDRIA, GENEROSO  

DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE  

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Risultati 1 - 20 di 251 (tempo di esecuzione: 0.016 secondi).
Titolo Tipologia Data di pubblicazione Autore(i) File
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review 1.1 Articolo in rivista 2005 Rossi, Massimiliano; Vajro, Pietro; Iorio, Raffaele; Battagliese, Antonella; BRUNETTI PIERRI, Nicola; Corso, Gaetano; Di, ; Rocco, M; Ferrari, P; Rivasi, F; Vecchione, Raffaela; Andria, Generoso; Parenti, Giancarlo
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
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation 1.1 Articolo in rivista 2006 Fecarotta, Simona; Parenti, Giancarlo; Vajro, Pietro; Zuppaldi, Alfredo; DELLA CASA, Roberto; Carbone, Mt; Correra, A; Torre, G; Riva, S; DIONISI VICI, C; Santorelli, Fm; 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
Lysinuric protein intolerance: Possible genetic heterogeneity? 1.1 Articolo in rivista 1981 Andria, Generoso; Sebastio, Gianfranco; Strisciuglio, Pietro; DEL GIUDICE, Ennio
A two-year-old patient with an atypical expression of GM1-beta-galactosidase deficiency: biochemical, immunological and cell genetic studies 1.1 Articolo in rivista 1979 Reuser, Ajj; Andria, Generoso; de Wit Verbeek, E; Hoogeven, A; DEL GIUDICE, Ennio; Halley, D.
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadism and anosmia): linkage relationships with Xg and cloned sequences from the distal short arm of the X-chromosome 1.1 Articolo in rivista 1986 Ballabio, Andrea; Parenti, Giancarlo; Tippett, P; Mondello, C; DI MAIO, S; Tenore, A; Andria, Generoso
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. 1.1 Articolo in rivista 2007 Lonardo, F; Parenti, Giancarlo; Luquetti, Dv; Annunziata, I; DELLA MONICA, M; Perone, L; De, ; Gregori, M; Zuffardi, O; BRUNETTI PIERRI, Nicola; Andria, Generoso; Scarano, G.
Relaxation of Insulin-like growth factor-2 imprinting and discordant methylation at KvDMR1 in two first-cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes 1.1 Articolo in rivista 2000 Sperandeo, Mp; Ungaro, P; Vernucci, M; Pedone, Pv; Cerrato, F; Perone, L; Casola, S; Cubellis, MARIA VITTORIA; Bruni, CARMELO BRUNO; Andria, Generoso; Sebastio, G; Riccio, A.
Unexplained Bilateral Occipital Calcification and Reduced Vision. 1.1 Articolo in rivista 1984 DEL GIUDICE, Ennio; Pelosi, L; Romano, Alfonso; De Bellis, P; Licenziati, Mr; Pastore, I; Andria, Generoso; Boltshauser, E; Comenale Pinto, L.
Prolonged Q-T interval syndrome presenting as idiopathic epilepsy. 1.1 Articolo in rivista 1983 Pignata, Claudio; Farina, V.; Andria, Generoso; DEL GIUDICE, Ennio; Striano, Salvatore; Adinolfi, L.
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
Megalocornea and mental retardation syndrome: two new cases. 1.1 Articolo in rivista 1987 DEL GIUDICE, Ennio; Sartorio, R; Romano, Alfonso; Carrozzo, R; Andria, Generoso
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.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Andria, Generoso; Ballabio, Andrea; Sebastio, G.
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 1.1 Articolo in rivista 1998 Daniele, A.; Parenti, G.; D'Addio, M.; Andria, Generoso; Ballabio, Andrea; Meroni, G.
How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? 1.1 Articolo in rivista 2003 Scala, I; Sperandeo, Mp; Fiorito, V; Andria, Generoso; Sebastio, G.
Spina bifida and folate-related genes: a study of gene-gene interactions 1.1 Articolo in rivista 2002 DE FRANCHIS, R; Botto, Ld; Sebastio, G; Ricci, R; Iolascon, A; Capra, V; Andria, Generoso; Mastroiacovo, P.
Spina bifida, 677C->T mutation, and role of folate. 1.1 Articolo in rivista 1995 DE FRANCHIS, R; Sebastio, G.; Mandato, C.; Andria, Generoso; Mastroiacovo, P.
Plasma homocysteine as a risk factor for vascular disease: the European concerted action project 1.1 Articolo in rivista 1997 Graham, Im; Daly, Le; Refsum, Hm; Robinson, K; Andria, Generoso