226 related articles for article (PubMed ID: 10422804)
1. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
Loubser O; Marais AD; Kotze MJ; Godenir N; Thiart R; Scholtz CL; de Villiers JN; Hillermann R; Firth JC; Weich HF; Maritz F; Jones S; van der Westhuyzen DR
Clin Genet; 1999 May; 55(5):340-5. PubMed ID: 10422804
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18279815
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 7903269
[TBL] [Abstract][Full Text] [Related]
4. Monogenic primary hypercholesterolaemia in South Africa.
Rubinsztein DC; van der Westhuyzen DR; Coetzee GA
S Afr Med J; 1994 Jun; 84(6):339-44. PubMed ID: 7740380
[TBL] [Abstract][Full Text] [Related]
5. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
Real JT; Chaves FJ; Ejarque I; García-García AB; Valldecabres C; Ascaso JF; Armengod ME; Carmena R
Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510
[TBL] [Abstract][Full Text] [Related]
6. Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
Raal FJ; Bahassi EM; Stevens B; Turner TA; Stein EA
Arterioscler Thromb Vasc Biol; 2020 Nov; 40(11):2747-2755. PubMed ID: 32878475
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 8792826
[TBL] [Abstract][Full Text] [Related]
8. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.
Thiart R; Varret M; Lintott CJ; Scott RS; Loubser O; du Plessis L; de Villiers JN; Boileau C; Kotze MJ
Mol Cell Probes; 2000 Oct; 14(5):299-304. PubMed ID: 11040093
[TBL] [Abstract][Full Text] [Related]
10. Multiple mutations underlying familial hypercholesterolemia in the South African population.
Henderson HE; Kotze MJ; Berger GM
Hum Genet; 1989 Aug; 83(1):67-70. PubMed ID: 2570020
[TBL] [Abstract][Full Text] [Related]
11. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.
Durst R; Colombo R; Shpitzen S; Avi LB; Friedlander Y; Wexler R; Raal FJ; Marais DA; Defesche JC; Mandelshtam MY; Kotze MJ; Leitersdorf E; Meiner V
Am J Hum Genet; 2001 May; 68(5):1172-88. PubMed ID: 11309683
[TBL] [Abstract][Full Text] [Related]
12. Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
Smyth N; Ramsay M; Raal FJ
Curr Opin Lipidol; 2018 Apr; 29(2):72-79. PubMed ID: 29369830
[TBL] [Abstract][Full Text] [Related]
13. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners.
Kotze MJ; Langenhoven E; Theart L; Loubser O; Micklem A; Oosthuizen CJ
S Afr Med J; 1995 May; 85(5):357-61. PubMed ID: 7638684
[TBL] [Abstract][Full Text] [Related]
14. Familial defective apolipoprotein B-100: A review.
Andersen LH; Miserez AR; Ahmad Z; Andersen RL
J Clin Lipidol; 2016; 10(6):1297-1302. PubMed ID: 27919345
[TBL] [Abstract][Full Text] [Related]
15. Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations.
Couture P; Morissette J; Gaudet D; Vohl MC; Gagné C; Bergeron J; Després JP; Simard J
Atherosclerosis; 1999 Mar; 143(1):145-51. PubMed ID: 10208489
[TBL] [Abstract][Full Text] [Related]
16. Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.
El Messal M; Aït Chihab K; Chater R; Vallvé JC; Bennis F; Hafidi A; Ribalta J; Varret M; Loutfi M; Rabès JP; Kettani A; Boileau C; Masana L; Adlouni A
J Hum Genet; 2003; 48(4):199-203. PubMed ID: 12730724
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.
Vergotine J; Thiart R; Langenhoven E; Hillermann R; De Jong G; Kotze MJ
Genet Couns; 2001; 12(2):121-7. PubMed ID: 11491306
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 8399083
[TBL] [Abstract][Full Text] [Related]
19. [Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].
Ejarque I; Real JT; Chaves FJ; Blesa S; González V; Milian E; Ascaso JF; Priego MA; Carmena R
Med Clin (Barc); 2004 Oct; 123(12):456-9. PubMed ID: 15498441
[TBL] [Abstract][Full Text] [Related]
20. The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.
Castillo S; Tejedor D; Mozas P; Reyes G; Civeira F; Alonso R; Ros E; Pocoví M; Mata P
Atherosclerosis; 2002 Nov; 165(1):127-35. PubMed ID: 12208478
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
