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Results: 1-24 |
Results: 24
Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians
Authors: Rose, G Passarino, G Carrieri, G Altomare, K Greco, V Bertolini, S Bonafe, M Franceschi, C De Benedictis, G
Citation: G. Rose et al., Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians, EUR J HUM G, 9(9), 2001, pp. 701-707
Low-density lipoprotein apheresis in a patient aged 3.5 years
Authors: Stefanutti, C Di Giacomo, S Vivenzio, A Colloridi, V Bosco, G Berni, A Rabbone, I Cerutti, F Bertolini, S
Citation: C. Stefanutti et al., Low-density lipoprotein apheresis in a patient aged 3.5 years, ACT PAEDIAT, 90(6), 2001, pp. 694-701
Updated analysis of epsilon '/epsilon in the standard model with hadronic matrix elements from the chiral quark model - art. no. 056009
Authors: Bertolini, S Eeg, JO Fabbrichesi, M
Citation: S. Bertolini et al., Updated analysis of epsilon '/epsilon in the standard model with hadronic matrix elements from the chiral quark model - art. no. 056009, PHYS REV D, 6305(5), 2001, pp. 6009
Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: Application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemia
Authors: Cantafora, A Blotta, I Bruzzese, N Calandra, S Bertolini, S
Citation: A. Cantafora et al., Rapid sizing of microsatellite alleles by gel electrophoresis on microfabricated channels: Application to the D19S394 tetranucleotide repeat for cosegregation study of familial hypercholesterolemia, ELECTROPHOR, 22(18), 2001, pp. 4012-4015
Autosomal recessive hypercholesterolemia caused by mutations in a putativeLDL receptor adaptor protein
Authors: Garcia, CK Wilund, K Arca, M Zuliani, G Fellin, R Maioli, M Calandra, S Bertolini, S Cossu, F Grishin, N Barnes, R Cohen, JC Hobbs, HH
Citation: Ck. Garcia et al., Autosomal recessive hypercholesterolemia caused by mutations in a putativeLDL receptor adaptor protein, SCIENCE, 292(5520), 2001, pp. 1394-1398
Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations
Authors: Sessa, A Battini, G Meroni, M Daidone, G Carnera, I Brambilla, PL Vigano, G Giordano, F Pallotti, F Tarelli, LT Calabresi, L Rolleri, M Bertolini, S
Citation: A. Sessa et al., Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations, NEPHRON, 88(3), 2001, pp. 268-272
Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene
Authors: Tarugi, P Lonardo, A Gabelli, C Sala, F Ballarini, G Cortella, I Previato, L Bertolini, S Cordera, R Calandra, S
Citation: P. Tarugi et al., Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene, J LIPID RES, 42(10), 2001, pp. 1552-1561
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
Authors: Bertolini, S Pisciotta, L Seri, M Cusano, R Cantafora, A Calabresi, L Franceschini, G Ravazzolo, R Calandra, S
Citation: S. Bertolini et al., A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease, ATHEROSCLER, 154(3), 2001, pp. 599-605
Identification of an alternative transcript of ABCA1 gene in different human cell types
Authors: Bellincampi, L Simone, ML Motti, C Cortese, C Bernardini, S Bertolini, S Calandra, S
Citation: L. Bellincampi et al., Identification of an alternative transcript of ABCA1 gene in different human cell types, BIOC BIOP R, 283(3), 2001, pp. 590-597
Polymorphisms of drug-metabolizing enzymes in healthy nonagenarians and centenarians: Difference at GSTT1 locus
Authors: Taioli, E Mari, D Franceschi, C Bonafe, M Monti, D Bertolini, S Marinelli, D Garte, S
Citation: E. Taioli et al., Polymorphisms of drug-metabolizing enzymes in healthy nonagenarians and centenarians: Difference at GSTT1 locus, BIOC BIOP R, 280(5), 2001, pp. 1389-1392
Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
Authors: Bertolini, S Cantafora, A Averna, M Cortese, C Motti, C Martini, S Pes, G Postiglione, A Stefanutti, C Blotta, I Pisciotta, L Rolleri, M Langheim, S Ghisellini, M Rabbone, I Calandra, S
Citation: S. Bertolini et al., Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype, ART THROM V, 20(9), 2000, pp. E41-E52
Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia - A study of patients with familial hypercholesterolemia from Sardinia
Authors: Deiana, L Garuti, R Pes, GM Carru, C Errigo, A Rolleri, M Pisciotta, L Masturzo, P Cantafora, A Calandra, S Bertolini, S
Citation: L. Deiana et al., Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia - A study of patients with familial hypercholesterolemia from Sardinia, ART THROM V, 20(1), 2000, pp. 236-243
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5)
Authors: Tarugi, P Lonardo, A Ballarini, G Erspamer, L Tondelli, E Bertolini, S Calandra, S
Citation: P. Tarugi et al., A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5), J HEPATOL, 33(3), 2000, pp. 361-370
Theory of the CP-violating parameter epsilon '/epsilon
Authors: Bertolini, S Fabbrichesi, M Eeg, JO
Citation: S. Bertolini et al., Theory of the CP-violating parameter epsilon '/epsilon, REV M PHYS, 72(1), 2000, pp. 65-93
Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr(302) > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia)
Authors: Bertolini, S Simone, ML Pes, GM Ghisellini, M Rolleri, M Bellocchio, A Elicio, N Masturzo, P Calandra, S
Citation: S. Bertolini et al., Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr(302) > Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia), CLIN GENET, 57(2), 2000, pp. 140-147
Gabrielle Suchon, a voluntary celibate life, or life without commitment
Authors: Bertolini, S
Citation: S. Bertolini, Gabrielle Suchon, a voluntary celibate life, or life without commitment, AUST J FR S, 37(3), 2000, pp. 289-308
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia
Authors: Bertolini, S Cassanelli, S Garuti, R Ghisellini, M Simone, ML Rolleri, M Masturzo, P Calandra, S
Citation: S. Bertolini et al., Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia, ART THROM V, 19(2), 1999, pp. 408-418
Lattice matrix elements confronting the experimental value of epsilon '/epsilon
Authors: Bertolini, S Fabbrichesi, M
Citation: S. Bertolini et M. Fabbrichesi, Lattice matrix elements confronting the experimental value of epsilon '/epsilon, J HIGH EN P, (10), 1999, pp. NIL_186-NIL_193
Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans
Authors: De Benedictis, G Rose, G Carrieri, G De Luca, M Falcone, E Passarino, G Bonafe, M Monti, D Baggio, G Bertolini, S Mari, D Mattace, R Franceschi, C
Citation: G. De Benedictis et al., Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans, FASEB J, 13(12), 1999, pp. 1532-1536
GH, IGFBP-1, and IGFBP-3 response to oral glucose tolerance test in perimenopausal women: no influence of body mass index
Authors: Bernardi, F Petraglia, F Seppala, M Spinetti, A Bertolini, S Driul, L Ferdeghini, M Genazzani, AR
Citation: F. Bernardi et al., GH, IGFBP-1, and IGFBP-3 response to oral glucose tolerance test in perimenopausal women: no influence of body mass index, MATURITAS, 33(2), 1999, pp. 163-169
Apolipoprotein E and alpha-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease
Authors: Licastro, F Pedrini, S Govoni, M Pession, A Ferri, C Annoni, G Casadei, V Veglia, F Bertolini, S Grimaldi, LME
Citation: F. Licastro et al., Apolipoprotein E and alpha-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease, NEUROSCI L, 270(3), 1999, pp. 129-132
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32
Authors: Varret, M Rabes, JP Saint-Jore, B Cenarro, A Marinoni, JC Civeira, F Devillers, M Krempf, M Coulon, M Thiart, R Kotze, MJ Schmidt, H Buzzi, JC Kostner, GM Bertolini, S Pocovi, M Rosa, A Farnier, M Martinez, M Junien, C Boileau, C
Citation: M. Varret et al., A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32, AM J HU GEN, 64(5), 1999, pp. 1378-1387
p53 variants predisposing to cancer are present in healthy centenarians
Authors: Bonafe, M Olivieri, F Mari, D Baggio, G Mattace, R Sansoni, P De Benedictis, G De Luca, M Bertolini, S Barbi, C Monti, D Franceschi, C
Citation: M. Bonafe et al., p53 variants predisposing to cancer are present in healthy centenarians, AM J HU GEN, 64(1), 1999, pp. 292-295
Gene/longevity association studies at four autosomal loci (REN, THO, PARP,SOD2)
Authors: De Benedictis, G Carotenuto, L Carrieri, G De Luca, M Falcone, E Rose, G Cavalcanti, S Corsonello, F Feraco, E Baggio, G Bertolini, S Mari, D Mattace, R Yashin, AI Bonafe, M Franceschi, C
Citation: G. De Benedictis et al., Gene/longevity association studies at four autosomal loci (REN, THO, PARP,SOD2), EUR J HUM G, 6(6), 1998, pp. 534-541
Risultati: 1-24 |