MASTURZO, PAOLA
MASTURZO, PAOLA
48 - Dipartimento di Medicina Interna e Specialita mediche (DIMI) (attivo dal 01/01/1997 al 18/07/2012)
A large deletion in the LDL-receptor gene. The cause of Familial Hypercholesterolemia in three italian families: a study that dates back to the 17th century (FH Pavia).
1992-01-01 Bertolini, Stefano; Lelli, N; Coviello, Da; Ghisellini, M; Masturzo, Paola; Tiozzo, R; Elicio, N; Gaddi, A; Calandra, S.
Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia
1999-01-01 Bertolini, Stefano; Cassanelli, S.; Garuti, R.; Ghisellini, M.; Simone, M. L.; Rolleri, M.; Masturzo, Paola; Calandra, S.
Apolipoprotein E4 allele frequency is not increased in progressive sopranuclear palsy
1995-01-01 Tabaton, Massimo; Rolleri, M; Masturzo, Paola; Cammarata, S; Angelini, P; Hansen, La; Saiton, T; Petersen, Rb; Perry, G; Richey, P; Gambetti, P; Bertolini, Stefano
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia.
1993-01-01 Coviello, Da; Bertolini, Stefano; Masturzo, Paola; Ghisellini, M; Tiozzo, R; Zambelli, F; Stefanutti, C; Torcia, F; Pachi', A; Ricci, G; Calandra, S.
Four novel partial deletions of LDL receptor gene in Italian patients with Familial Hypercholesterolemia
1995-01-01 Bertolini, Stefano; Garuti, L.; Lelli, N.; Rolleri, M.; Tiozzo, R.; Ghisellini, M.; Simone, M. L.; Masturzo, Paola; Elicio, N.; Stefanutti, C.; Coviello, D. A.; Carabbio, C.; Calandra, S.
Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia
2004-01-01 Bertolini, Stefano; Pisciotta, Livia; DI SCALA, L; Langheim, S; Bellocchio, A; Masturzo, Paola; Cantafora, A; Martini, S; Averna, M; Pes, G. M.; Stefanutti, C; Calandra, S.
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.
2000-01-01 Deiana, L; Garuti, R; Pes, Gm; Carru, C; Errigo, A; Rolleri, M; Pisciotta, Livia; Masturzo, Paola; Cantafora, A; Calandra, S; Bertolini, Stefano
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing Familial Hypercholesterolemia (FH Salerno)
1994-01-01 Bertolini, Stefano; Patell, Dd; Coviello, Da; Lelli, N; Ghisellini, M; Tiozzo, R; Masturzo, Paola; Elicio, N; Knight, Bl; Calandra, S.
Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years.
2003-01-01 Pisciotta, Livia; Cantafora, A; Piana, A; Masturzo, Paola; Cerone, R; Minniti, G; Bellocchio, A; Reggiani, E; Armani, U; Bertolini, Stefano
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL Olbia).
2000-01-01 Bertolini, Stefano; Simone, Ml; Pes, Gm; Ghisellini, M; Rolleri, M; Bellocchio, A; Elicio, N; Masturzo, Paola; Calandra, S.
Regional cerebral blood flow in familial hypercholesterolemia
1994-01-01 Rodriguez, Guido; Bertolini, Stefano; Nobili, FLAVIO MARIANO; Arrigo, A; Masturzo, Paola; Elicio, N; Gambaro, M; Rosadini, G.
Variation in the LDL-receptor gene is associated with differences in plasma LDL-cholesterol levels in young and old normal individuals from Italy.
1991-01-01 Humphries, S; Coviello, Da; Masturzo, Paola; Balestreri, Roberto; Orecchini, G; Bertolini, Stefano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A large deletion in the LDL-receptor gene. The cause of Familial Hypercholesterolemia in three italian families: a study that dates back to the 17th century (FH Pavia). | 1-gen-1992 | Bertolini, Stefano; Lelli, N; Coviello, Da; Ghisellini, M; Masturzo, Paola; Tiozzo, R; Elicio, N; Gaddi, A; Calandra, S. | |
| Analysis of LDL receptor gene mutations in Italian patients with homozygous Familial Hypercholesterolemia | 1-gen-1999 | Bertolini, Stefano; Cassanelli, S.; Garuti, R.; Ghisellini, M.; Simone, M. L.; Rolleri, M.; Masturzo, Paola; Calandra, S. | |
| Apolipoprotein E4 allele frequency is not increased in progressive sopranuclear palsy | 1-gen-1995 | Tabaton, Massimo; Rolleri, M; Masturzo, Paola; Cammarata, S; Angelini, P; Hansen, La; Saiton, T; Petersen, Rb; Perry, G; Richey, P; Gambetti, P; Bertolini, Stefano | |
| Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia. | 1-gen-1993 | Coviello, Da; Bertolini, Stefano; Masturzo, Paola; Ghisellini, M; Tiozzo, R; Zambelli, F; Stefanutti, C; Torcia, F; Pachi', A; Ricci, G; Calandra, S. | |
| Four novel partial deletions of LDL receptor gene in Italian patients with Familial Hypercholesterolemia | 1-gen-1995 | Bertolini, Stefano; Garuti, L.; Lelli, N.; Rolleri, M.; Tiozzo, R.; Ghisellini, M.; Simone, M. L.; Masturzo, Paola; Elicio, N.; Stefanutti, C.; Coviello, D. A.; Carabbio, C.; Calandra, S. | |
| Genetic polymorphisms affecting the phenotypic expression in familial hypercholesterolemia | 1-gen-2004 | Bertolini, Stefano; Pisciotta, Livia; DI SCALA, L; Langheim, S; Bellocchio, A; Masturzo, Paola; Cantafora, A; Martini, S; Averna, M; Pes, G. M.; Stefanutti, C; Calandra, S. | |
| Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia. | 1-gen-2000 | Deiana, L; Garuti, R; Pes, Gm; Carru, C; Errigo, A; Rolleri, M; Pisciotta, Livia; Masturzo, Paola; Cantafora, A; Calandra, S; Bertolini, Stefano | |
| Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing Familial Hypercholesterolemia (FH Salerno) | 1-gen-1994 | Bertolini, Stefano; Patell, Dd; Coviello, Da; Lelli, N; Ghisellini, M; Tiozzo, R; Masturzo, Paola; Elicio, N; Knight, Bl; Calandra, S. | |
| Physical activity modulates effects of some genetic polymorphisms affecting cardiovascular risk in men aged over 40 years. | 1-gen-2003 | Pisciotta, Livia; Cantafora, A; Piana, A; Masturzo, Paola; Cerone, R; Minniti, G; Bellocchio, A; Reggiani, E; Armani, U; Bertolini, Stefano | |
| Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL Olbia). | 1-gen-2000 | Bertolini, Stefano; Simone, Ml; Pes, Gm; Ghisellini, M; Rolleri, M; Bellocchio, A; Elicio, N; Masturzo, Paola; Calandra, S. | |
| Regional cerebral blood flow in familial hypercholesterolemia | 1-gen-1994 | Rodriguez, Guido; Bertolini, Stefano; Nobili, FLAVIO MARIANO; Arrigo, A; Masturzo, Paola; Elicio, N; Gambaro, M; Rosadini, G. | |
| Variation in the LDL-receptor gene is associated with differences in plasma LDL-cholesterol levels in young and old normal individuals from Italy. | 1-gen-1991 | Humphries, S; Coviello, Da; Masturzo, Paola; Balestreri, Roberto; Orecchini, G; Bertolini, Stefano |