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Results: 1-25 | 26-28
Results: 1-25/28
Analysis of the NRAMP1 gene implicated in iron transport: Association withmultiple sclerosis and age effects
Authors: Kotze, MJ de Villiers, JNP Rooney, RN Grobbelaar, JJ Mansvelt, EPG Bouwens, CSH Carr, J Stander, I du Plessis, L
Citation: Mj. Kotze et al., Analysis of the NRAMP1 gene implicated in iron transport: Association withmultiple sclerosis and age effects, BL CELL M D, 27(1), 2001, pp. 44-53
Novel RET mutations in Hirschsprung's disease patients from the diverse South African population
Authors: Julies, MG Moore, SW Kotze, MJ du Plessis, L
Citation: Mg. Julies et al., Novel RET mutations in Hirschsprung's disease patients from the diverse South African population, EUR J HUM G, 9(6), 2001, pp. 419-423
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
Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation
Authors: Warnich, L Waso, HFJ Groenewald, IM Bester, AE de Villiers, JNP Kotze, MJ Lynch, AG Louw, JH
Citation: L. Warnich et al., Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation, MOL CELL PR, 15(4), 2001, pp. 217-221
Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay
Authors: Petersen, DC Kotze, MJ Zeier, MD Grimwood, A Pretorius, D Vardas, E van Rensburg, EJ Hayes, VM
Citation: Dc. Petersen et al., Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay, AIDS, 15(2), 2001, pp. 171-177
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
Authors: Durst, R Colombo, R Shpitzen, S Ben Avi, L Friedlander, Y Wexler, R Raal, FJ Marais, DA Defesche, JC Mandelshtam, MY Kotze, MJ Leitersdorf, E Meiner, V
Citation: R. Durst et al., 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, AM J HU GEN, 68(5), 2001, pp. 1172-1188
A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations
Authors: Oberkanins, C Moritz, A De Villiers, JNP Kotze, MJ Fury, F
Citation: C. Oberkanins et al., A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations, GENET TEST, 4(2), 2000, pp. 121-124
Somatic mutations of the APC, KRAS, and TP53 genes in nonpolypoid colorectal adenomas
Authors: van Wyk, R Slezak, P Hayes, VM Buys, CHCM Kotze, MJ de Jong, G Rubio, C Dolk, A Jaramillo, E Koizumi, K Grobbelaar, JJ
Citation: R. Van Wyk et al., Somatic mutations of the APC, KRAS, and TP53 genes in nonpolypoid colorectal adenomas, GENE CHROM, 27(2), 2000, pp. 202-208
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia
Authors: Thiart, R Varret, M Lintott, CJ Scott, RS Loubser, O du Plessis, L de Villiers, JNP Boileau, C Kotze, MJ
Citation: R. Thiart et al., Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia, MOL CELL PR, 14(5), 2000, pp. 299-304
Inherited colon cancers
Authors: Goldberg, PA Madden, MV Harocopos, C Grobbelaar, JJ Kotze, MJ Marx, MP de Jong, G Ramesar, R
Citation: Pa. Goldberg et al., Inherited colon cancers, S AFR MED J, 90(7), 2000, pp. 703-704
Familial adenomatous polyposis coli in South Africa - Molecular basis and diagnosis
Authors: Grobbelaar, JJ Fortuin, R Scholtz, CL Zikind, A Langenhoven, E Wyllie, AH Bubb, VJ Kotze, MJ
Citation: Jj. Grobbelaar et al., Familial adenomatous polyposis coli in South Africa - Molecular basis and diagnosis, S AFR MED J, 90(7), 2000, pp. 715-719
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
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
Authors: Thiart, R Scholtz, CL Vergotine, J Hoogendijk, CF de Villiers, JNP Nissen, H Brusgaard, K Gaffney, D Hoffs, MS Vermaak, WJH Kotze, MJ
Citation: R. Thiart et al., Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia, J MED GENET, 37(7), 2000, pp. 514-519
Inhibition of cholesterol synthesis by atorvastatin in homozygous familialhypercholesterolaemia
Authors: Raal, FJ Pappu, AS Illingworth, DR Pilcher, GJ Marais, AD Firth, JC Kotze, MJ Heinonen, TM Black, DM
Citation: Fj. Raal et al., Inhibition of cholesterol synthesis by atorvastatin in homozygous familialhypercholesterolaemia, ATHEROSCLER, 150(2), 2000, pp. 421-428
Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis
Authors: de Villiers, JNP Kotze, MJ
Citation: Jnp. De Villiers et Mj. Kotze, Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis, BL CELL M D, 25(15), 1999, pp. 250-252
Multiple APC mutations in sporadic flat colorectal adenomas
Authors: van Wyk, R Slezak, P Kotze, MJ Jaramillo, E Koizumi, K Grobbelaar, JJ
Citation: R. Van Wyk et al., Multiple APC mutations in sporadic flat colorectal adenomas, EUR J HUM G, 7(8), 1999, pp. 928-932
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria (vol 8, pg 1517, 1999)
Authors: de Villiers, JNP Hillerman, R Loubser, L Kotze, MJ
Citation: Jnp. De Villiers et al., Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria (vol 8, pg 1517, 1999), HUM MOL GEN, 8(9), 1999, pp. 1817-1817
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
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene
Authors: Peeters, AV Thiart, R de Villiers, JNP Jensen, HK Van Gaal, LF Kotze, MJ
Citation: Av. Peeters et al., Intronic mutations at splice junctions in the low-density lipoprotein receptor gene, MOL CELL PR, 13(4), 1999, pp. 257-260
Molecular diagnosis of hereditary haemochromatosis - Identify an affected person and save a family
Authors: Milani, MY Kotze, MJ
Citation: My. Milani et Mj. Kotze, Molecular diagnosis of hereditary haemochromatosis - Identify an affected person and save a family, S AFR MED J, 89(3), 1999, pp. 263-264
High prevalence of the Cys282Tyr HFE mutation facilitates and improved diagnostic service for hereditary haemochromatosis in South Africa
Authors: de Villiers, JNP Hillerman, R de Jong, G Langenhoven, E Rossouw, H Marx, MP Kotze, MJ
Citation: Jnp. De Villiers et al., High prevalence of the Cys282Tyr HFE mutation facilitates and improved diagnostic service for hereditary haemochromatosis in South Africa, S AFR MED J, 89(3), 1999, pp. 279-282
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
MedPed FH: a paradigm for other common monogenic diseases in South Africa
Authors: Kotze, MJ Callis, M
Citation: Mj. Kotze et M. Callis, MedPed FH: a paradigm for other common monogenic diseases in South Africa, ATHEROSCLER, 144(2), 1999, pp. 467-468
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
Risultati: 1-25 | 26-28