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Cerebrotendinous xanthomatosis caused by two new mutations of sterol-27-hydroxylase gene that disrupt mRNA splicing. 1-gen-1996 Garuti, R; Lelli, N; Barozzini, M; Tiozzo, R; Dotti, Mt; Federico, A; Ottomano, Am; Croce, A; Bertolini, Stefano; Calandra, S.
Presence of soluble amyloid beta peptide precedes amyloid plaque formation in Down's syndrome 1-gen-1996 Teller, J. K.; Russo, C.; Debusk, L. M.; Angelini, G.; Zaccheo, Damiano; DAGNA BRICARELLI, F.; Scartezzini, P.; Bertolini, Stefano; Mann, D. M.; Tabaton, Massimo; Gambetti, P.
Partial deletion of the gene encoding the enzyme sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. 1-gen-1996 Garuti, R; Lelli, N; Barozzini, M; Dotti, Mt; Federico, A; Bertolini, Stefano; Calandra, S.
LDL apheresis with dextran sulfate and angiotension receptor antagonist (Losartan). 1-gen-1997 Elicio, N; Bertolini, Stefano; Garbarini, R; Nardiello, G; Elicio, A; Aimale, V.
Four novel mutations of sterol-27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis. 1-gen-1997 Garuti, R; Croce, Ma; Tiozzo, R; Dotti, Mt; Federico, A; Bertolini, Stefano; Calandra, S.
Gene polymorphisms predicting high plasma levels of coagulation and fibrinolysis proteins: a study in centenarians. 1-gen-1997 Mannucci, Pm; Mari, D; Merati, G; Peyvandi, F; Tagliabue, L; Sacchi, E; Taioli, E; Sansoni, P; Bertolini, Stefano; Franceschi, C.
DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus. 1-gen-1997 De Benedictis, G; Falcone, E; Rose, G; Ruffolo, R; Spadafora, P; Baggio, G; Bertolini, Stefano; Mari, D; Mattace, R; Monti, D; Morellini, M; Sansoni, P; Franceschi, C.
LDL apheresis in a homozygous familial hypercholesterolemic child aged 4.5. 1-gen-1997 Stefanutti, C; Notarbartolo, A; Colloridi, V; Nigri, A; Vivenzio, A; Bertolini, Stefano; Bosco, G; Berni, A; Di Giacomo, S; Mazzarella, B.
Efficacy and safety of atorvastatin compared to pravastatin in patients with hypercholesterolemia. 1-gen-1997 Bertolini, Stefano; Bon, Gb; Campbell, Lm; Farnier, M; Langan, J; Mahla, G; Pauciullo, P; Sirtori, C; Egros, F; Fayyad, R; Nawrocki, Jw
Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). 1-gen-1998 De Benedictis, G; Carotenuto, L; Carrieri, G; De Luca, M; Falcone, E; Rose, G; Cavalcanti, S; Corsonello, F; Feraco, E; Baggio, G; Bertolini, Stefano; Mari, D; Mattace, R; Yashin, Ai; Bonafè, M; Franceschi, C.
A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia 1-gen-1998 Cassanelli, S; Bertolini, Stefano; Rolleri, M; DE STEFANO, Francesco; Casarino, L; Elicio, N; Naselli, A; Calandra, S.
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor. 1-gen-1998 Patel, Dd; Lelli, N; Garuti, R; LI VOLTI, S; Bertolini, Stefano; Knight, Bl; Calandra, S.
Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction. 1-gen-1998 Cantafora, A; Blotta, I; Mercuri, E; Calandra, S; Bertolini, Stefano
Double-Blind Comparison of Apolipoprotein and Lipoprotein Particle Lowering Effects of Atorvastatin and Pravastatin Monotherapy in Patients With Primary Hypercholesterolemia. 1-gen-1998 Dallongeville, J; Fruchart, Jc; Maigret, P; Bertolini, Stefano; Bon, Gb; Campbell, Mm; Farnier, M; Langan, J; Mahla, G; Pauciullo, P; Sirtori, C.
Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online. 1-gen-1998 Motti, C; Bertolini, Stefano; Rampa, P; Trovatello, G; Liberatoscioli, L; Calandra, S; Federici, G; Cortese, C.
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.
Unusual inheritance of severe primary hypercholesterolemia. 1-gen-1999 Calandra, S; Bertolini, Stefano
A Third Major Locus for Autosomal Dominant Hypercholesterolemia maps at 1p34.1-p32. 1-gen-1999 Varret, M; Rabes, Jp; SAINT JORE, B; Cenarro, A; Marinoni, J. C.; Civeira, F; Devillers, M; Krempf, M; Coulon, M; Thiart, R; Kotze, Mj; Schmidt, H; Buzzi, J. C.; Kostner, Gm; Bertolini, Stefano; Pocovi, M; Rosa, A; Farnier, M; Martinez, M; Junien, C; Boileau, C.
Apolipoprotein E and alpha-1-antichymotrypsin allele polymorphism in sporadic and familial Alzheimer's disease. 1-gen-1999 Licastro, F; Pedrini, S; Govoni, M; Pession, A; Ferri, C; Annoni, G; Casadei, V; Veglia, F; Bertolini, Stefano; Grimaldi, Lm
Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. 1-gen-1999 DE BENEDICTIS, G; Rose, G; Carrieri, G; DE LUCA, M; Falcone, E; Passarino, G; Bonaf, M; Monti, D; Baggio, G; Bertolini, Stefano; Mari, D; Mattace, R; Franceschi, C.
Mostrati risultati da 21 a 40 di 138
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