J. D. de Villiers

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Two double heterozygotes in a South African Afrikaner family: implications for BRCA1 and BRCA2 predictive testing

F. Loubser, J. D. de Villiers, N. C. van der Merwe, 2012, Clinical genetics.

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia.

A. Marais, M. Kotze, J. D. de Villiers, 1999, Human molecular genetics.

Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis

M. Kotze, J. Carr, J. D. de Villiers, 2006, Metabolic Brain Disease.

Molecular diagnosis of hereditary hemochromatosis: application of a newly‐developed reverse‐hybridization assay in the South African population

C. Oberkanins, J. D. de Villiers, L. Warnich, 2004, Clinical genetics.

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

M. Kotze, O. Loubser, J. D. de Villiers, 1996, Human Genetics.

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.

F. Raal, M. Kotze, J. D. de Villiers, 1998, Molecular and cellular probes.

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.

M. Kotze, O. Loubser, J. D. de Villiers, 1997, Molecular and cellular probes.

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia

F. Raal, M. Kotze, O. Loubser, 1997, Human Genetics.

High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa.

M. Kotze, J. D. de Villiers, E. Langenhoven, 1999, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Preventing organ damage by genetic testing for hereditary haemochromatosis

J. D. de Villiers, M. Kotze, S. W. van der Merwe, 2005 .

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

M. Kotze, J. D. de Villiers, R. Hillermann, 1999, Human molecular genetics.

Molecular analysis reveals a high mutation frequency in the first untranslated exon of the PPOX gene and largely excludes variegate porphyria in a subset of clinically affected Afrikaner families.

J. Groenewald, M. Kotze, O. Loubser, 1998, Molecular and cellular probes.

Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.

L. V. Van Gaal, M. Kotze, J. D. de Villiers, 1999, Molecular and cellular probes.

Human gene mutations. Gene symbol: HFE. Disease: hereditary haemochromatosis.

M. Kotze, J. D. de Villiers, C. Hoogendijk, 1998, Human genetics.

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia

M. Kotze, K. Brusgaard, D. Gaffney, 2000, Journal of medical genetics.

Analysis of viral and genetic factors in South African patients with multiple sclerosis

M. Kotze, J. Carr, J. D. de Villiers, 2006, Metabolic Brain Disease.

A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations.

M. Kotze, C. Oberkanins, J. D. de Villiers, 2000, Genetic testing.

Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis.

M. Kotze, J. D. de Villiers, 1999, Blood cells, molecules & diseases.

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

C. Boileau, M. Kotze, C. Lintott, 2000, Molecular and cellular probes.

Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria

M. Kotze, J. Frank, J. D. de Villiers, 2005, Experimental dermatology.

Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects.

M. Kotze, J. Carr, J. D. de Villiers, 2001, Blood cells, molecules & diseases.

Altered Homeostasis of Systemic Glucocorticoids as Related to Obesity, Glucose Tolerance, and Smoking

G. Jirikowski, J. D. de Villiers, D. Wande, 2012, Hormone and Metabolic Research.

Earlier Age of Onset of Alzheimer's Disease in Patients with Both the Transferrin C2 and Apolipoprotein E‐ɛ4 Alleles

J. Taljaard, M. Kotze, J. D. de Villiers, 2000 .

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.

M. Hayden, D. Rubinsztein, P. Amouyel, 2003, Molecular and cellular probes.

Single nucleotide polymorphisms of the protoporphyrinogen oxidase gene: inter-population heterogeneity of allelic variation.

M. Kotze, J. D. de Villiers, L. Warnich, 2001, Molecular and cellular probes.

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

W. V. D. Van de Ven, E. Schoenmakers, J. Groenewald, 1996, Human molecular genetics.

Earlier age of onset of Alzheimer's disease in patients with both the transferrin C2 and apolipoprotein E-epsilon 4 alleles.

J. Taljaard, M. Kotze, J. D. de Villiers, 2000, Annals of the New York Academy of Sciences.