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Results: 1-7 |
Results: 7
Prenatal diagnosis of familial hypercholesterolemia: Importance of DNA analysis in the high-risk South African population
Authors: Vergotine, J Thiart, R Langenhoven, E Hillermann, R De Jong, G Kotze, MJ
Citation: J. Vergotine et al., Prenatal diagnosis of familial hypercholesterolemia: Importance of DNA analysis in the high-risk South African population, GEN COUNSEL, 12(2), 2001, pp. 121-127
Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not withintrauterine growth restriction
Authors: Gebhardt, GS Scholtz, CL Hillermann, R Odendaal, HJ
Citation: Gs. Gebhardt et al., Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not withintrauterine growth restriction, EUR J OB GY, 97(2), 2001, pp. 174-177
Lipoprotein(A) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia
Authors: Scholtz, CL Lingenhel, A Hillermann, R Stander, IA Kriek, JA Marais, MP Odendaal, HJ Kraft, HG Utermann, G Kotze, MJ
Citation: Cl. Scholtz et al., Lipoprotein(A) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia, S AFR MED J, 90(4), 2000, pp. 374-378
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
Authors: de Villiers, JNP Hillermann, R Loubser, L Kotze, MJ
Citation: Jnp. De Villiers et al., Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria, HUM MOL GEN, 8(8), 1999, pp. 1517-1522
Mutation-59c -> t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South Africanfamily with familial hypercholesterolaemia
Authors: Scholtz, CL Peeters, AV Hoogendijk, CF Thiart, R de Villiers, JNP Hillermann, R Liu, JW Marais, AD Kotze, MJ
Citation: Cl. Scholtz et al., Mutation-59c -> t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South Africanfamily with familial hypercholesterolaemia, HUM MOL GEN, 8(11), 1999, pp. 2025-2030
Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent
Authors: Rooney, RN Kotze, MJ de Villiers, JNP Hillermann, R Cohen, JA
Citation: Rn. Rooney et al., Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent, AM J MED G, 86(2), 1999, pp. 194-196
Founder mutations in the LDL receptor gene contribute significantly to thefamilial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry
Authors: Loubser, O Marais, AD Kotze, MJ Godenir, N Thiart, R Scholtz, CL de Villiers, JNP Hillermann, R Firth, JC Weich, HFH Maritz, F Jones, S van der Westhuyzen, DR
Citation: O. Loubser et al., Founder mutations in the LDL receptor gene contribute significantly to thefamilial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry, CLIN GENET, 55(5), 1999, pp. 340-345
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