IRIS

PARENTI, GIANCARLO

PARENTI, GIANCARLO  

DIPARTIMENTO DI SCIENZE MEDICHE TRASLAZIONALI  

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Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases 1.1 Articolo in rivista 2007 Garnier, A; Dauger, S; Eurin, D; Parisi, I; Parenti, Giancarlo; Garel, C; Delbecque, K; Baumann, C.
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1 1.1 Articolo in rivista 2004 Ricci, V; Stroppiano, M; Corsolini, F; DI ROCCO, M; Parenti, Giancarlo; Regis, S; Grossi, S; Biancheri, R; Mazzotti, R; Filocamo, M.
Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders. 1.1 Articolo in rivista 2006 DI ROCCO, M; Rossi, A; Parenti, Giancarlo; Allegri, Ae; Filocamo, M; Pessagno, A; TORTORI DONATI, P; Minetti, C; Biancheri, R.
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient 1.1 Articolo in rivista 2006 Regis, S; Lualdi, S; Biffi, A; Sessa, M; Corsolini, F; Parenti, Giancarlo; Filocamo, M.
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II 1.1 Articolo in rivista 2006 Montalvo, Al; Bembi, B; Donnarumma, M; Filocamo, M; Parenti, Giancarlo; Rossi, Massimiliano; Merlini, L; Buratti, E; DE FILIPPI, P; Dardis, A; Stroppiano, M; Ciana, G; Pittis, Mg
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.
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 presence of a reduced amount of 32 kDa "protective" protein is a distinct biochemical finding in late infantile galactosialidosis 1.1 Articolo in rivista 1988 Strisciuglio, Pietro; Parenti, Giancarlo; Giudice, C; Lijoi, S; Hoogeveen, At; D'Azzo, A.
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.
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance 1.1 Articolo in rivista 2000 Sperandeo, Mp; Bassi, Mt; Riboni, M; Parenti, Giancarlo; Buoninconti, A; Manzoni, M; Incerti, B; Larocca, Mr; DI ROCCO, M; Strisciuglio, Pietro; Dianzani, I; Parini, R; Candito, M; Endo, F; Ballabio, Andrea; Andria, Generoso; Sebastio, Gianfranco; Borsani, G.
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene 1.1 Articolo in rivista 1995 Parenti, Giancarlo; Rizzolo, Mg; Ghezzi, M; DI MAIO, S; Sperandeo, Mp; Incerti, B; Franco, Brunella; Ballabio, Andrea; Andria, Generoso
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
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
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.
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.
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3b-hydroxysteroid-D5-desaturase 1.1 Articolo in rivista 2002 BRUNETTI PIERRI, Nicola; Corso, G; Rossi, M; Ferrari, P; Balli, F; Rivasi, F; Annunziata, I; Ballabio, Andrea; DELLO RUSSO, A; Andria, G; Parenti, Giancarlo
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course 1.1 Articolo in rivista 1995 Parenti, Giancarlo; Sebastio, G; Strisciuglio, Pietro; Incerti, B; Pecoraro, C; Terracciano, L; Andria, G.