Lelli N - Search Results

1

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. Arterioscler Thromb. 1991 Mar-Apr;11(2):234-43. doi: 10.1161/01.atv.11.2.234. Arterioscler Thromb. 1991. PMID: 1998642

2

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. Hum Genet. 1991 Feb;86(4):359-62. doi: 10.1007/BF00201833. Hum Genet. 1991. PMID: 1999337

3

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. J Lipid Res. 1995 Jun;36(6):1315-24. J Lipid Res. 1995. PMID: 7545204 Free article.

4

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. Hum Genet. 1994 May;93(5):538-40. doi: 10.1007/BF00202819. Hum Genet. 1994. PMID: 8168830

5

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: lelli n. Atherosclerosis. 1996 Mar;121(1):105-17. doi: 10.1016/0021-9150(95)05707-2. Atherosclerosis. 1996. PMID: 8678915

6

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. J Lipid Res. 1993 Aug;34(8):1347-54. J Lipid Res. 1993. PMID: 8409767 Free article.

7

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: lelli n. Am J Hum Genet. 1992 Jul;51(1):123-34. Am J Hum Genet. 1992. PMID: 1609792 Free PMC article.

8

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: lelli n. J Lipid Res. 1994 Aug;35(8):1422-30. J Lipid Res. 1994. PMID: 7989866 Free article.

9

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: lelli n. J Lipid Res. 1996 Mar;37(3):662-72. J Lipid Res. 1996. PMID: 8728327 Free article.

10

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: lelli n. J Lipid Res. 1996 Jul;37(7):1459-67. J Lipid Res. 1996. PMID: 8827518 Free article.

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