Ghisellini M - Search Results

1

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: ghisellini m. Hum Genet. 1993 Oct;92(4):424-6. doi: 10.1007/BF01247350. Hum Genet. 1993. PMID: 7901144

2

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

3

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

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

5

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: ghisellini m. 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

6

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

7

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: ghisellini m. 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

8

Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).

Bertolini S, Simone ML, Pes GM, Ghisellini M, Rolleri M, Bellocchio A, Elicio N, Masturzo P, Calandra S. Bertolini S, et al. Among authors: ghisellini m. Clin Genet. 2000 Feb;57(2):140-7. doi: 10.1034/j.1399-0004.2000.570209.x. Clin Genet. 2000. PMID: 10735636

9

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.

Bertolini S, Cantafora A, Averna M, Cortese C, Motti C, Martini S, Pes G, Postiglione A, Stefanutti C, Blotta I, Pisciotta L, Rolleri M, Langheim S, Ghisellini M, Rabbone I, Calandra S. Bertolini S, et al. Among authors: ghisellini m. Arterioscler Thromb Vasc Biol. 2000 Sep;20(9):E41-52. doi: 10.1161/01.atv.20.9.e41. Arterioscler Thromb Vasc Biol. 2000. PMID: 10978268

10

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

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