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Results: 1 to 20 of 287

1.

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.

Kotze MJ, De Villiers WJ, Steyn K, Kriek JA, Marais AD, Langenhoven E, Herbert JS, Graadt Van Roggen JF, Van der Westhuyzen DR, Coetzee GA.

Arterioscler Thromb. 1993 Oct;13(10):1460-8.

PMID:
8399083
[PubMed - indexed for MEDLINE]
Free Article
2.

FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia.

Graadt van Roggen JF, van der Westhuyzen DR, Coetzee GA, Marais AD, Steyn K, Langenhoven E, Kotze MJ.

Arterioscler Thromb Vasc Biol. 1995 Jun;15(6):765-72.

PMID:
7773731
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
4.

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

Steyn K, Goldberg YP, Kotze MJ, Steyn M, Swanepoel AS, Fourie JM, Coetzee GA, Van der Westhuyzen DR.

Hum Genet. 1996 Oct;98(4):479-84.

PMID:
8792826
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.

Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7.

PMID:
18279815
[PubMed - indexed for MEDLINE]
7.

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia.

Jeenah M, September W, Graadt van Roggen F, de Villiers W, Seftel H, Marais D.

Atherosclerosis. 1993 Jan 4;98(1):51-8.

PMID:
8457250
[PubMed - indexed for MEDLINE]
9.

Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men.

Gaudet D, Vohl MC, Couture P, Moorjani S, Tremblay G, Perron P, Gagné C, Després JP.

Atherosclerosis. 1999 Mar;143(1):153-61.

PMID:
10208490
[PubMed - indexed for MEDLINE]
10.

Low density lipoprotein receptor founder mutations in Afrikaner familial hypercholesterolaemic patients: a comparison of two geographical areas.

Graadt van Roggen F, van der Westhuyzen DR, Marais AD, Gevers W, Coetzee GA.

Hum Genet. 1991 Dec;88(2):204-8.

PMID:
1757095
[PubMed - indexed for MEDLINE]
12.

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.

Pimstone SN, Sun XM, du Souich C, Frohlich JJ, Hayden MR, Soutar AK.

Arterioscler Thromb Vasc Biol. 1998 Feb;18(2):309-15.

PMID:
9484998
[PubMed - indexed for MEDLINE]
Free Article
13.

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

Pereira E, Ferreira R, Hermelin B, Thomas G, Bernard C, Bertrand V, Nassiff H, Mendez del Castillo D, Bereziat G, Benlian P.

Hum Genet. 1995 Sep;96(3):319-22.

PMID:
7649549
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners.

Kotze MJ, Langenhoven E, Theart L, Marx MP, Oosthuizen CJ.

Genet Couns. 1994;5(1):15-21.

PMID:
8031531
[PubMed - indexed for MEDLINE]
16.

A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.

Wang D, Wu B, Li Y, Heng W, Zhong H, Mu Y, Wang J.

J Hum Genet. 2001;46(3):152-4.

PMID:
11310584
[PubMed - indexed for MEDLINE]
17.
18.

[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
[PubMed - indexed for MEDLINE]
19.

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.

Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ.

Clin Genet. 1998 Jul;54(1):74-8.

PMID:
9727745
[PubMed - indexed for MEDLINE]
20.

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population.

Defesche JC, van Diermen DE, Lansberg PJ, Lamping RJ, Reymer PW, Hayden MR, Kastelein JJ.

Hum Genet. 1993 Dec;92(6):567-70.

PMID:
7903269
[PubMed - indexed for MEDLINE]

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