Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

272 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
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: bertolini s. J Lipid Res. 1997 Nov;38(11):2322-34. J Lipid Res. 1997. PMID: 9392430
Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia.
Lelli N, Ghisellini M, Calandra S, Gaddi A, Ciarrocchi A, Coviello DA, Bertolini S. Lelli N, et al. Among authors: bertolini s. Hum Genet. 1991 Feb;86(4):359-62. doi: 10.1007/BF00201833. Hum Genet. 1991. PMID: 1999337
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: bertolini s. 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. 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
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. J Lipid Res. 1994 Aug;35(8):1422-30. J Lipid Res. 1994. PMID: 7989866
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: bertolini s. Hum Genet. 1994 May;93(5):538-40. doi: 10.1007/BF00202819. Hum Genet. 1994. PMID: 8168830
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: bertolini s. J Lipid Res. 1993 Aug;34(8):1347-54. J Lipid Res. 1993. PMID: 8409767
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: bertolini s. Atherosclerosis. 1996 Mar;121(1):105-17. doi: 10.1016/0021-9150(95)05707-2. Atherosclerosis. 1996. PMID: 8678915
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. Among authors: bertolini s. J Lipid Res. 1996 Mar;37(3):662-72. J Lipid Res. 1996. PMID: 8728327
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: bertolini s. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518
272 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback