IRIS

ANDRIA, GENEROSO

ANDRIA, GENEROSO  

DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE  

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Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function 1.1 Articolo in rivista 2003 Toscano, E; Pacileo, G; Limongelli, G; Verrengia, M; DI MITA, O; DI MAIO, S; Andria, Generoso; DEL GIUDICE, Ennio; Caniello, B; Calabro, R; Andria, G.
Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome. 1.1 Articolo in rivista 2007 Galletti, P; DE BONIS, Ml; Sorrentino, A; Raimo, M; D'Angelo, S; Scala, Iris; Andria, Generoso; D'Aniello, A; Ingrosso, D; Zappia, Vincenzo
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.
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
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability 1.1 Articolo in rivista 2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
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.
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 1.1 Articolo in rivista 2007 Scala, Iris; Granese, B; Lisi, A; Mastroiacovo, P; Andria, Generoso
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. 1.1 Articolo in rivista 2005 Melis, Daniela; Fulceri, R; Parenti, Giancarlo; Marcolongo, P; Gatti, R; Parini, R; Riva, E; DELLA CASA, Roberto; Zammarchi, E; Andria, Generoso; Benedetti, A.
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. 1.1 Articolo in rivista 2007 Goldberg, Yp; Macfarlane, J; Macdonald, Ml; Thompson, J; Dube, Mp; Mattice, M; Fraser, R; Young, C; Hossain, S; Pape, T; Payne, B; Radomski, C; Donaldson, G; Ives, E; Cox, J; Younghusband, Hb; Green, R; Duff, A; Boltshauser, E; Grinspan, Ga; Dimon, Jh; Sibley, Bg; Andria, Generoso; Toscano, E; Kerdraon, J; Bowsher, D; Pimstone, Sn; Samuels, Me; Sherrington, R; Hayden, Mr
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
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.
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 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
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
Health implications of homocysteine and folates: possible preventive measures. 1.1 Articolo in rivista 2005 Andria, Generoso; Scala, Iris; Sebastio, Gianfranco
Charcot-Marie-Tooth disease: molecular characterization of patients from central and southern Italy. 1.1 Articolo in rivista 1995 Guzzetta, V; Santoro, Lucio; Gasparo Rippa, P; Ragno, M; Vita, G; Caruso, G; Andria, Generoso
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor (Trk A)-related disorder 1.1 Articolo in rivista 2000 Toscano, E.; DELLA CASA, Roberto; Mardy, S.; Gaetaniello, L.; Sadile, Francesco; Indo, Y.; Pignata, Claudio; Andria, Generoso
Alfa-glucosidase enhancement in fibroblasts from patients with Pompe disease 1.5 Abstract in rivista 2005 Parenti, Giancarlo; Zuppaldi, A; Tuzzi, Mr; Rossi, M; Andria, Generoso
Il ruolo del pediatra nell'approccio clinico al ritardo psicomotorio e mentale. 1.1 Articolo in rivista 1995 DEL GIUDICE, Ennio; Andria, Generoso