ANDRIA, GENEROSO
ANDRIA, GENEROSO
DIPARTIMENTO DI NEUROSCIENZE E SCIENZE RIPRODUTTIVE ED ODONTOSTOMATOLOGICHE
Subclinical hypothyroidism and Down's syndrome; studies on myocardial structure and function
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.
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
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
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
2003 BRUNETTI PIERRI, Nicola; Andreucci, M. V.; Tuzzi, R.; Vega, G. R.; Gray, G.; Mckeown, C; Ballabio, Andrea; Andria, Generoso; Meroni, G.; Parenti, G.
Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis
1987 Ballabio, Andrea; Parenti, Giancarlo; Carrozzo, R; Sebastio, G; Andria, Generoso; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G; Jobsis, Ac; Persico, Mg
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
1999 Borsani, G.; Bassi, Mt; Sperandeo, Mp; DE GRANDI, A.; Buoninconti, A.; Riboni, M.; Manzoni, M.; Incerti, B.; Andria, Generoso; Ballabio, Andrea; Sebastio, G.
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease.
2007 Parenti, Giancarlo; Zuppaldi, Alfredo; GABRIELA PITTIS, M; Tuzzi, Mr; Annunziata, I; Meroni, G; Porto, C; Donaudy, F; Rossi, B; Rossi, M; Filocamo, M; Donati, A; Bembi, B; Ballabio, Andrea; Andria, Generoso
folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.
2007 Scala, Iris; Granese, B; Lisi, A; Mastroiacovo, P; Andria, Generoso
Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.
2007 Santamaria, Francesca; Andreucci, Mv; Parenti, Giancarlo; Polverino, M; Viggiano, D; Montella, Silvia; Cesaro, A; Ciccarelli, R; Capaldo, Brunella; Andria, Generoso
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.
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.
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
2005 Melis, Daniela; Fulceri, R; Parenti, Giancarlo; Marcolongo, P; Gatti, R; Parini, R; Riva, E; DELLA CASA, Roberto; Zammarchi, E; Andria, Generoso; Benedetti, A.
Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance.
2004 Santamaria, Francesca; Brancaccio, G; Parenti, Giancarlo; Francalanci, P; Squitieri, C; Sebastio, Gianfranco; DIONISI VICI, C; D'Argenio, P; Andria, Generoso; Parisi, F.
Study of multimodal evoked potentials in patients with type 1 Gaucher's disease.
2005 Perretti, A; Parenti, Giancarlo; Balbi, P; Titomanlio, L; Marcantonio, L; Iapoce, M; Frascogna, Ar; Andria, Generoso; Santoro, Lucio
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
2005 Melis, Daniela; Parenti, Giancarlo; Gatti, R; DELLA CASA, Roberto; Parini, R; Riva, E; Burlina, Ab; DIONISI VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, Generoso
Geleophysic Dysplasia: a 7-year follow-up of a patient with an intermediate form
1999 Titomanlio, Luigi; DELLA CASA, Roberto; Lecora, M.; Farina, Vincenzo; Sebastio, Gianfranco; Andria, Generoso; Parenti, Giancarlo
Megalocornea and mental retardation syndrome: two new cases.
1987 DEL GIUDICE, Ennio; Sartorio, R; Romano, Alfonso; Carrozzo, R; Andria, Generoso
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
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.
2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
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
1986 Ballabio, Andrea; Parenti, Giancarlo; Tippett, P; Mondello, C; DI MAIO, S; Tenore, A; Andria, Generoso
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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. | |
| Isolation and characterization of a steroid sulphatase cDNA clone: genomic deletions in patients with X-chromosome linked ichthyosis | 1.1 Articolo in rivista | 1987 | Ballabio, Andrea; Parenti, Giancarlo; Carrozzo, R; Sebastio, G; Andria, Generoso; Buckle, V; Fraser, N; Craig, I; Rocchi, M; Romeo, G; Jobsis, Ac; Persico, Mg | |
| 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. | |
| Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe Disease. | 1.1 Articolo in rivista | 2007 | Parenti, Giancarlo; Zuppaldi, Alfredo; GABRIELA PITTIS, M; Tuzzi, Mr; Annunziata, I; Meroni, G; Porto, C; Donaudy, F; Rossi, B; Rossi, M; Filocamo, M; Donati, A; Bembi, B; Ballabio, Andrea; Andria, Generoso | |
| 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 | |
| Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings. | 1.1 Articolo in rivista | 2007 | Santamaria, Francesca; Andreucci, Mv; Parenti, Giancarlo; Polverino, M; Viggiano, D; Montella, Silvia; Cesaro, A; Ciccarelli, R; Capaldo, Brunella; 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. | |
| 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. | |
| 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. | |
| Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. | 1.1 Articolo in rivista | 2005 | Perretti, A; Parenti, Giancarlo; Balbi, P; Titomanlio, L; Marcantonio, L; Iapoce, M; Frascogna, Ar; Andria, Generoso; Santoro, Lucio | |
| Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study. | 1.1 Articolo in rivista | 2005 | Melis, Daniela; Parenti, Giancarlo; Gatti, R; DELLA CASA, Roberto; Parini, R; Riva, E; Burlina, Ab; DIONISI VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, Generoso | |
| 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 | |
| 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 | |
| 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 |