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Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Garuti R, Croce MA, Tiozzo R, Dotti MT, Federico A, Bertolini S, Calandra S. Garuti R, et al. Among authors: tiozzo r. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia.
Bertolini S, Garuti R, Lelli W, Rolleri M, Tiozzo RM, Ghisellini M, Simone ML, Masturzo P, Elicio NC, Stefanutti C, et al. Bertolini S, et al. Among authors: tiozzo rm. Arterioscler Thromb Vasc Biol. 1995 Jan;15(1):81-8. doi: 10.1161/01.atv.15.1.81. Arterioscler Thromb Vasc Biol. 1995. PMID: 7749819
Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia.
Parise F, Simone L, Croce MA, Ghisellini M, Battini R, Borghi S, Tiozzo R, Ferrari S, Calandra S, Ferrari S, Calandra S, Ferrari S. Parise F, et al. Among authors: tiozzo r. Hum Gene Ther. 1999 May 1;10(7):1219-28. doi: 10.1089/10430349950018201. Hum Gene Ther. 1999. PMID: 10340553
Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).
Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Li Volti S, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S. Garuti R, et al. Among authors: tiozzo r. Atherosclerosis. 1996 Mar;121(1):105-17. doi: 10.1016/0021-9150(95)05707-2. Atherosclerosis. 1996. PMID: 8678915
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza).
Lelli N, Garuti R, Zambelli F, Cassanelli S, Tiozzo R, Corsini A, Bertolini S, Riva E, Ortisi MT, Bell├╣ R. Lelli N, et al. Among authors: tiozzo r. J Lipid Res. 1993 Aug;34(8):1347-54. J Lipid Res. 1993. PMID: 8409767
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
Lelli N, Garuti R, Pedrazzi P, Ghisellini M, Simone ML, Tiozzo R, Cattin L, Valenti M, Rolleri M, Bertolini S, et al. Lelli N, et al. Among authors: tiozzo r. Hum Genet. 1994 May;93(5):538-40. doi: 10.1007/BF00202819. Hum Genet. 1994. PMID: 8168830
Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
Bertolini S, Patel DD, Coviello DA, Lelli N, Ghisellini M, Tiozzo R, Masturzo P, Elicio N, Knight BL, Calandra S. Bertolini S, et al. Among authors: tiozzo r. J Lipid Res. 1994 Aug;35(8):1422-30. J Lipid Res. 1994. PMID: 7989866
Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.
Garuti R, Lelli N, Barozzini M, Tiozzo R, Dotti MT, Federico A, Ottomano AM, Croce A, Bertolini S, Calandra S. Garuti R, et al. Among authors: tiozzo r. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518
Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento).
Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S. Lelli N, et al. Among authors: tiozzo r. J Lipid Res. 1995 Jun;36(6):1315-24. J Lipid Res. 1995. PMID: 7545204
Plasma lipoproteins, tissue cholesterol overload, and skeletal muscle apolipoprotein A-I synthesis in the developing chick.
Tarugi P, Reggiani D, Ottaviani E, Ferrari S, Tiozzo R, Calandra S. Tarugi P, et al. Among authors: tiozzo r. J Lipid Res. 1989 Jan;30(1):9-22. J Lipid Res. 1989. PMID: 2493058
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