Author

J. Nico P. de Villiers

Observed names: De Villiers JNP, De Villiers Jnp, J N de Villiers, J Nico P De Villiers, J Nico P de Villiers, J. N. P. de Villiers, J. Nico P. De Villiers, J.N. P. DE VILLIERS, J.N.P De Villiers, J.N.P de Villiers, J.N.P. de Villiers, J.Nico P de Villiers, J.Nico P. de Villiers, JNP De Villiers, JNP de Villiers

Observed institutions: Stellenbosch University, Aarhus University Hospital, Tygerberg Hospital, Medical Research Council

OpenAlex ID: A5111670679

Spectrum of Mutations in the HFE Gene Implicated in Haemochromatosis and Porphyria

1999 · J. N. P. de Villiers, R. Hillermann, et al. · Human Molecular Genetics · 83

Analysis of the NRAMP1 Gene Implicated in Iron Transport: Association with Multiple Sclerosis and Age Effects

2001 · Maritha J. Kotze, J.Nico P. de Villiers, et al. · Blood Cells Molecules and Diseases · 72

A Reverse-Hybridization Assay for the Rapid and Simultaneous Detection of Nine HFE Gene Mutations

2000 · Christian Oberkanins, Anne Moritz, et al. · Genetic Testing · 54

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

1999 · Odell Loubser, A David Marais, et al. · Clinical Genetics · 32

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CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians

1997 · Maritha J. Kotze, Odell Loubser, et al. · Clinical Genetics · 28

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

2004 · MJ Kotze, JNP De Villiers, et al. · Clinical Genetics · 27

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

2006 · J. Nico P. de Villiers, Florette K. Treurnicht, et al. · Metabolic Brain Disease · 26

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

2000 · S. J. VAN RENSBURG, F.C. V. POTOCNIK, et al. · Annals of the New York Academy of Sciences · 26

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

2006 · Maritha J. Kotze, J Nico P de Villiers, et al. · Metabolic Brain Disease · 20

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

1999 · J N de Villiers, R Hillerman, et al. · PubMed · 19

Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent

1999 · Roberta N. Rooney, Maritha J. Kotze, et al. · American Journal of Medical Genetics · 17

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

1997 · M. J. Kotze, J. Nico P. de Villiers, et al. · Human Genetics · 15

Significance of Linkage Disequilibrium between Mutation C282Y and a MseI Polymorphism in Population Screening and DNA Diagnosis of Hemochromatosis

1999 · J.Nico P de Villiers, Maritha J Kotze · Blood Cells Molecules and Diseases · 13

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

1998 · M.J Kotze, J.N.P De Villiers, et al. · Molecular and Cellular Probes · 13

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

1998 · Magda Callis, Stander Jansen, et al. · Molecular and Cellular Probes · 13

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

1996 · M. J. Kotze, Rochelle Thiart, et al. · Human Genetics · 11

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

2012 · F Loubser, JNP de Villiers, et al. · Clinical Genetics · 8

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

1998 · Maritha J. Kotze, Armand V. Peeters, et al. · Clinical Genetics · 8

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

2000 · R Thiart, M Varret, et al. · Molecular and Cellular Probes · 7

Role of Iron Metabolism in Multiple Sclerosis

2003 · Maritha J. Kotze, J. Nico P. De Villiers, et al. · WORLD SCIENTIFIC eBooks · 6

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia

1998 · Rochelle Thiart, Odell Loubser, et al. · Human Mutation · 6

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

2005 · J. Nico P. De Villiers, Maritha J. Kotze, et al. · Experimental Dermatology · 5

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

2001 · L. Warnich, H.F.J. Waso, et al. · Molecular and Cellular Probes · 5

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

2003 · C.F Hoogendijk, C.L Scholtz, et al. · Molecular and Cellular Probes · 4

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

1997 · Rochelle Thiart, Odell Loubser, et al. · Molecular and Cellular Probes · 4

Works count: 36

Citation count: 528

H-index: 13

I10-index: 16