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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. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia.
Bertolini S, Cassanelli S, Garuti R, Ghisellini M, Simone ML, Rolleri M, Masturzo P, Calandra S. Bertolini S, et al. Among authors: garuti r. Arterioscler Thromb Vasc Biol. 1999 Feb;19(2):408-18. doi: 10.1161/01.atv.19.2.408. Arterioscler Thromb Vasc Biol. 1999. PMID: 9974426
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.
Patel DD, Lelli N, Garuti R, Li Volti S, Bertolini S, Knight BL, Calandra S. Patel DD, et al. Among authors: garuti r. J Lipid Res. 1998 Jul;39(7):1466-75. J Lipid Res. 1998. PMID: 9684750
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. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
Garuti R, Lelli N, Barozzini M, Dotti MT, Federico A, Bertolini S, Calandra S. Garuti R, et al. J Lipid Res. 1996 Mar;37(3):662-72. J Lipid Res. 1996. PMID: 8728327
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. 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: garuti 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: garuti r. Hum Genet. 1994 May;93(5):538-40. doi: 10.1007/BF00202819. Hum Genet. 1994. PMID: 8168830
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: garuti r. J Lipid Res. 1995 Jun;36(6):1315-24. J Lipid Res. 1995. PMID: 7545204
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: garuti r. 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
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