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Items: 1 to 20 of 114

1.

Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.

Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muñiz O, Galiana J, Figueras R, Diaz JL, Gomez-Enterría P, Mauri M, Piedecausa M, Irigoyen L, Aguado R, Mata P; Spanish Familial Hypercholesterolaemia Group.

Atherosclerosis. 2008 Oct;200(2):315-21. doi: 10.1016/j.atherosclerosis.2007.12.024. Epub 2008 Feb 20.

PMID:
18243212
2.

Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators.

J Am Coll Cardiol. 2014 May 20;63(19):1982-9. doi: 10.1016/j.jacc.2014.01.063. Epub 2014 Mar 13.

3.

Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.

Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun LD, Lupien PJ, Després JP.

Atherosclerosis. 1996 Sep 27;126(1):163-71.

PMID:
8879444
5.

[Influence of plasma lipids, APOE genotype and type of LDL receptor gene mutations on myocardial infarction in subjects with familial hypercholesterolemia].

Real JT, Ascaso JF, Chaves FJ, González C, Puig O, Armengod ME, Carmena R.

Med Clin (Barc). 2002 May 18;118(18):681-5. Spanish.

PMID:
12042130
6.

Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.

Vohl MC, Gaudet D, Moorjani S, Tremblay G, Perron P, Gagné C, Lesiège D, Bergeron J, Lupien PJ, Després JP.

Eur J Clin Invest. 1997 May;27(5):366-73.

PMID:
9179542
7.

Genetic and environmental factors affecting the response to statin therapy in patients with molecularly defined familial hypercholesterolaemia.

Miltiadous G, Xenophontos S, Bairaktari E, Ganotakis M, Cariolou M, Elisaf M.

Pharmacogenet Genomics. 2005 Apr;15(4):219-25.

PMID:
15864114
8.

Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.

Santos PC, Morgan AC, Jannes CE, Turolla L, Krieger JE, Santos RD, Pereira AC.

Atherosclerosis. 2014 Mar;233(1):206-10. doi: 10.1016/j.atherosclerosis.2013.12.028. Epub 2014 Jan 4.

PMID:
24529145
9.

Lp(a) levels and atherosclerotic vascular disease in a sample of patients with familial hypercholesterolemia sharing the same gene defect.

Carmena R, Lussier-Cacan S, Roy M, Minnich A, Lingenhel A, Kronenberg F, Davignon J.

Arterioscler Thromb Vasc Biol. 1996 Jan;16(1):129-36.

PMID:
8548413
10.

Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation.

Civeira F, Castillo S, Alonso R, Meriño-Ibarra E, Cenarro A, Artied M, Martín-Fuentes P, Ros E, Pocoví M, Mata P; Spanish Familial Hypercholesterolemia Group.

Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1960-5. Epub 2005 Jul 14.

PMID:
16020744
11.

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.

Diakou M, Miltiadous G, Xenophontos SL, Manoli P, Cariolou MA, Elisaf M.

Eur J Intern Med. 2011 Oct;22(5):e55-9. doi: 10.1016/j.ejim.2011.01.003. Epub 2011 Feb 11.

PMID:
21925044
12.

Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.

Miltiadous G, Elisaf M, Bairaktari H, Xenophontos SL, Manoli P, Cariolou MA.

Hum Mutat. 2001 May;17(5):432-3.

PMID:
11317361
13.

Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia.

Souverein OW, Defesche JC, Zwinderman AH, Kastelein JJ, Tanck MW.

Eur Heart J. 2007 Feb;28(3):299-304. Epub 2006 Nov 7.

PMID:
17090611
14.
16.

The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients.

Jansen AC, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, van Lennep HW, Sijbrands EJ, Kastelein JJ.

J Intern Med. 2004 Dec;256(6):482-90.

17.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
18.

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

Vuorio AF, Turtola H, Piilahti KM, Repo P, Kanninen T, Kontula K.

Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):3127-38.

PMID:
9409302
19.

Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia.

Descamps OS, Gilbeau JP, Luwaert R, Heller FR.

Eur J Clin Invest. 2003 Jan;33(1):1-9.

PMID:
12492446
20.

MEDPED and the Spanish Familial Hypercholesterolemia Foundation.

Mata P, Alonso R, Castillo S, Pocovi M; Spanish Group of Familial Hypercholesterolemia.

Atheroscler Suppl. 2002 Mar;2(3):9-11.

PMID:
11923123

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