PARENTI, GIANCARLO
PARENTI, GIANCARLO
DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI
X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability
2003 BRUNETTI PIERRI, Nicola; Andreucci, Mv; Tuzzi, R; Vega, Gr; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G; Parenti, Giancarlo
Structure and mutation analysis of glycogen storage disease type 1b gene
1998 Marcolongo, P; Barone, V; Priori, G; Pirola, B; Giglio, S; Biasucci, G; Zammarchi, E; Parenti, Giancarlo; Burchell, A; Benedetti, A; Sorrentino, V.
Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts
1987 Parenti, Giancarlo; Willemsen, R; Hoogeveen, At; VERLEUN MOOYMAN, M; VAN DONGEN, Jm; Galjaard, H.
A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
1995 Franco, Brunella; Meroni, G; Parenti, Giancarlo; Levilliers, J; Bernard, L; Gebbia, M; Cox, L; Maroteaux, P; Sheffield, L; Rappold, G; Andria, G; Petit, C. BALLABIO A.
Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene
2002 Bisanzi, S; Morrone, A; Donati, Ma; Pasquini, E; Spada, M; Strisciuglio, Pietro; Parenti, Giancarlo; Parini, R; Papadia, F; Zammarchi, E.
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs
2003 Melis, D; Parenti, Giancarlo; DELLA CASA, Roberto; Sibilio, M; BERNI CANANI, Roberto; Terrin, G; Cucchiara, S; Andria, 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
Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun
1990 Hu, P; Parenti, Giancarlo; Keulemans, J; Hoogeveen, At
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
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
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
2002 Ion, A; Tartaglia, M; Song, X; Kalidas, K; VAN DER BURGT, I; Shaw, Ac; Ming, Je; Zampino, G; Parenti, Giancarlo; Patton, Ma; Gelb, Bd; Jeffery, S.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
2002 Filocamo, M; Mazzotti, R; Stroppiano, M; Seri, M; Giona, F; Parenti, Giancarlo; Regis, S; Corsolini, F; Zoboli, S; Gatti, R.
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
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
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
2002 Corso, G; Rossi, M; DE BRASI, D; Rossi, I; Parenti, Giancarlo; DELLO RUSSO, A.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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, Mv; Tuzzi, R; Vega, Gr; Gray, G; Mckeown, C; Ballabio, Andrea; Andria, G; Meroni, G; Parenti, Giancarlo | |
| Structure and mutation analysis of glycogen storage disease type 1b gene | 1.1 Articolo in rivista | 1998 | Marcolongo, P; Barone, V; Priori, G; Pirola, B; Giglio, S; Biasucci, G; Zammarchi, E; Parenti, Giancarlo; Burchell, A; Benedetti, A; Sorrentino, V. | |
| Immunocytochemical localization of lysosomal acid phosphatase in normal and I-cell fibroblasts | 1.1 Articolo in rivista | 1987 | Parenti, Giancarlo; Willemsen, R; Hoogeveen, At; VERLEUN MOOYMAN, M; VAN DONGEN, Jm; Galjaard, H. | |
| A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy | 1.1 Articolo in rivista | 1995 | Franco, Brunella; Meroni, G; Parenti, Giancarlo; Levilliers, J; Bernard, L; Gebbia, M; Cox, L; Maroteaux, P; Sheffield, L; Rappold, G; Andria, G; Petit, C. BALLABIO A. | |
| Genetic analysis in nine unrelated Italian patients affected by OCT deficiency: detection of novel mutations in the OCT gene | 1.1 Articolo in rivista | 2002 | Bisanzi, S; Morrone, A; Donati, Ma; Pasquini, E; Spada, M; Strisciuglio, Pietro; Parenti, Giancarlo; Parini, R; Papadia, F; Zammarchi, E. | |
| Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs | 1.1 Articolo in rivista | 2003 | Melis, D; Parenti, Giancarlo; DELLA CASA, Roberto; Sibilio, M; BERNI CANANI, Roberto; Terrin, G; Cucchiara, S; Andria, 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 | |
| Lysosomal tartrate sensitive acid phosphatase deficiency in cells which contain lysosomal "high uptake forms" Biochem Biophys Res Commun | 1.1 Articolo in rivista | 1990 | Hu, P; Parenti, Giancarlo; Keulemans, J; Hoogeveen, At | |
| 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 | |
| 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 | |
| Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome | 1.1 Articolo in rivista | 2002 | Ion, A; Tartaglia, M; Song, X; Kalidas, K; VAN DER BURGT, I; Shaw, Ac; Ming, Je; Zampino, G; Parenti, Giancarlo; Patton, Ma; Gelb, Bd; Jeffery, S. | |
| Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. | 1.1 Articolo in rivista | 2002 | Filocamo, M; Mazzotti, R; Stroppiano, M; Seri, M; Giona, F; Parenti, Giancarlo; Regis, S; Corsolini, F; Zoboli, S; Gatti, R. | |
| 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 | |
| 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 | |
| Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring. | 1.1 Articolo in rivista | 2002 | Corso, G; Rossi, M; DE BRASI, D; Rossi, I; Parenti, Giancarlo; DELLO RUSSO, A. |