IRIS

ANDRIA, GENEROSO

ANDRIA, GENEROSO  

DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE  

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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
Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants 1.1 Articolo in rivista 2004 MARTINEZ FRIAS, Ml; Bermejo, E; RODRIGUEZ PINILLA, E; Scala, Iris; Andria, Generoso; Botto, L.
Cholelithiasis in Down's syndrome 1.1 Articolo in rivista 2001 Toscano, E; Trivellini, V; Andria, Generoso
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome 1.1 Articolo in rivista 1998 110: Sperandeo, Mp; Borsani, G; Incerti, B; Zollo, Massimo; Rossi, E; Zuffardi, O; Castaldo, P; Taglialatela, Maurizio; Andria, Generoso; Sebastio, G.
Oxidative stress and plateletactivation in homozygous homocystinuria 1.1 Articolo in rivista 2001 Davì, G; DI MINNO, Giovanni; Coppola, A; Andria, Generoso; Cerbone, Am; Madonna, P; Tufano, A; Falco, A; Marchesani, P; Ciabattoni, G; Patrono, C.
Studies onthiamine metabolism in thiamine-responsive megaloblastic anaemia. 1.1 Articolo in rivista 1989 Poggi, V; Rindi, G; Patrini, C; DE VIZIA, Basilio; Longo, G; Andria, Generoso
Unbalanced translocation (3;5)(q26.1;p14): aclinical report 1.1 Articolo in rivista 2002 Rossi, M; Di Micco, P; Perone, L; De Brasi, D; Guzzetta, V; Andreucci, Mv; Vega, Gr; Marzano, Mg; Iaccarino, E; Andria, Generoso
Molecular analysis of patients affected by homocystinuria due tocystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11 1.1 Articolo in rivista 1995 Sperandeo, Mp; Panico, M; Pepe, A; Candito, M; de Franchis, R; Kraus, Jp; Andria, Generoso; Sebastio, G.
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.. 1.1 Articolo in rivista 2003 Cox, Tm; Aerts, Jm; Andria, Generoso; Beck, M; Belmatoug, N; Bembi, B; Chertkoff, R; Vom Dahl, S; Elstein, D; Erikson, A; Giralt, M; Heitner, R; Hollak, C; Hrebicek, M; Lewis, S; Mehta, A; Pastores, Gm; Rolfs, A; Miranda, Mc; Zimran, A.
Ultrasonographic detection ofarterial disease in treated homocystinuria 1.1 Articolo in rivista 1989 Rubba, PAOLO OSVALDO FEDERICO; Faccenda, F; Strisciuglio, Pietro; Andria, Generoso
A 68-bp insertion foundin a homocystinuric patient is a common variant and is skipped by alternativesplicing of the cystathionine beta-synthase mRNA. 1.1 Articolo in rivista 1996 Sperandeo, Mp; de Franchis, R; Andria, Generoso; Sebastio, G.
Congenitalinsensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) geneencoding a high-affinity receptor for nerve growth factor 1.1 Articolo in rivista 1999 Mardy, S; Miura, Y; Endo, F; Matsuda, I; Sztriha, L; Frossard, P; Moosa, A; Ismail, Ea; Macaya, A; Andria, Generoso; Toscano, E; Gibson, W; Graham, Ge; Indo, Y.
Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. 1.1 Articolo in rivista 1987 Parenti, Giancarlo; Ballabio, Andrea; Hoogeveen, At; Van der Loos, Cm; Jobsis, Ac; 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
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded childrenand their mothers 1.1 Articolo in rivista 1988 Sartorio, R; Greco, Luigi; Carrozzo, R; Budillon, C; Andria, Generoso
A novel mutation of the beta-glucocerebrosidase geneassociated with neurologic manifestations in three sibs 1.1 Articolo in rivista 1998 Parenti, Giancarlo; Filocamo, M; Titomanlio, L; Rizzolo, G; Silvestro, E; Perretti, A; Gatti, R; Andria, Generoso
Elevated total plasmahomocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolatereductase gene in thrombotic vascular disease. 1.1 Articolo in rivista 1996 de Franchis, R; Mancini, Fp; D'Angelo, A; Sebastio, G; Fermo, I; de Stefano, V; Margaglione, M; Mazzola, G; DI MINNO, Giovanni; Andria, Generoso
Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature 1.1 Articolo in rivista 2003 Rossi, M; Guerrini, R; Dobyns, Wb; Andria, Generoso; Winter, R. M.
Homocysteine response to methionine challenge in fourobligate heterozygotes for homocystinuria and relationship with cystathioninebeta-synthase mutations 1.1 Articolo in rivista 1996 Sperandeo, Mp; Candito, M; Sebastio, G; Rolland, Mo; Turc Carel, C; Giudicelli, H; Dellamonica, P; Andria, Generoso
Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report. 1.1 Articolo in rivista 1999 Sperandeo, Mp; Buoninconti, A; Passariello, A; Scala, Iris; Adami, A; Lauteala, T; Mykkänen, J; Andria, Generoso; Sebastio, G.