Tiozzo R - Search Results

1

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 Free article.

2

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

3

A large deletion in the LDL receptor gene--the cause of familial hypercholesterolemia in three Italian families: a study that dates back to the 17th century (FH-Pavia).

Bertolini S, Lelli N, Coviello DA, Ghisellini M, Masturzo P, Tiozzo R, Elicio N, Gaddi A, Calandra S. Bertolini S, et al. Among authors: tiozzo r. Am J Hum Genet. 1992 Jul;51(1):123-34. Am J Hum Genet. 1992. PMID: 1609792 Free PMC article.

4

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 Free article.

5

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, Bellù R. Lelli N, et al. Among authors: tiozzo r. J Lipid Res. 1993 Aug;34(8):1347-54. J Lipid Res. 1993. PMID: 8409767 Free article.

6

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 Free article.

7

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia.

Lelli N, Ghisellini M, Gualdi R, Tiozzo R, Calandra S, Gaddi A, Ciarrocchi A, Arca M, Fazio S, Coviello DA, et al. Lelli N, et al. Among authors: tiozzo r. Arterioscler Thromb. 1991 Mar-Apr;11(2):234-43. doi: 10.1161/01.atv.11.2.234. Arterioscler Thromb. 1991. PMID: 1998642

8

Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolaemia.

Coviello DA, Bertolini S, Masturzo P, Ghisellini M, Tiozzo R, Zambelli F, Stefanutti C, Torcia F, Pachi A, Ricci G, et al. Coviello DA, et al. Among authors: tiozzo r. Hum Genet. 1993 Oct;92(4):424-6. doi: 10.1007/BF01247350. Hum Genet. 1993. PMID: 7901144

9

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

10

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

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