PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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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 complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency 1.1 Articolo in rivista 1985 Ballabio, Andrea; Parenti, Giancarlo; Napolitano, E; DI NATALE, P; Andria, G.
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.
Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis 1.1 Articolo in rivista 1992 Basler, E; Grompe, M; Parenti, Giancarlo; Yates, J; Ballabio, Andrea
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.
Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with CDPX 1.1 Articolo in rivista 1998 Daniele, A; Parenti, Giancarlo; D'Addio, M; Andria, G; Ballabio, Andrea; Meroni, 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
Steroid sulphatase deficiency and hypogonadism 1.1 Articolo in rivista 1984 Andria, G; Ballabio, Andrea; Parenti, Giancarlo; DI MAIO, S; Piccirillo, A.
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
Evidence of polyglandular involvement in Niemann-Pick disease type B 1.1 Articolo in rivista 1987 Strisciuglio, Pietro; DI MAIO, S; Parenti, Giancarlo; Franzese, Adriana; Lubrano, P; Mariano, A; Andria, G.
A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 38: 34- 36, 2001 1.1 Articolo in rivista 2001 Filocamo, M; Regis, S; Mazzotti, R; Parenti, Giancarlo; Stroppiano, M; Gatti, R.
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.
The sulfatase gene family 1.1 Articolo in rivista 1997 Parenti, Giancarlo; Meroni, G; Ballabio, Andrea
Molecular heterogeneity of STS deficiency. A multicenter study on 57 unrelated patients at DNA and protein levels 1.1 Articolo in rivista 1989 Ballabio, Andrea; Carrozzo, R; Parenti, Giancarlo; Gil, A; Zollo, Massimo; Persico, G; Gillard, E; Affara, N; Fergusonsmith, Ma; Gal, A; Herrmann, F; Frants, Rr; Eriksson, Aw; Andria, G.