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Rochelle Thiart

A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32
1999 · Mathilde Varret, Jean-Pierre Rabès, et al. · The American Journal of Human Genetics · 174
The UMD-LDLR database: additions to the software and 490 new entries to the database
2002 · Ludovic Villéger, Marianne Abifadel, et al. · Human Mutation · 110
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Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.
1995 · M J Kotze, L Theart, et al. · Genome Research · 52
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First report of CFTR mutations in black cystic fibrosis patients of southern African origin.
1996 · S Carles, M Desgeorges, et al. · Journal of Medical Genetics · 51
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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
Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote
1996 · Elzet Langenhoven, Louise Warnich, et al. · Atherosclerosis · 21
Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.
2002 · Charlotte L Scholtz, Hein J Odendaal, et al. · PubMed · 20
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
2000 · Rochelle Thiart, Charlotte L Scholtz, et al. · Journal of Medical Genetics · 20
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Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease
2003 · Maritha J. Kotze, Gernot Kriegshäuser, et al. · Molecular Diagnosis · 17
Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population.
2001 · J Vergotine, R Thiart, et al. · PubMed · 15
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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
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
Genetics of dyslipidaemia
2008 · Maritha J. Kotze, Rochelle Thiart · CME/Continuing medical education · 11
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
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics
2001 · L.F. Van Gaal, A.V. Peeters, et al. · Molecular and Cellular Probes · 10
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.
2001 · J Vergotine, R Thiart, et al. · PubMed · 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
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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Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age
2006 · MJ Kotze, R Thiart, et al. · South African Family Practice · 4
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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
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene
1999 · AV Peeters, R Thiart, et al. · Molecular and Cellular Probes · 2
Cardiovascular genetic assessment and treatment in middle age to reduce the risk of heart disease and dementia in old age : review article
2006 · Maritha J. Kotze, Rochelle Thiart, et al. · South African Family Practice
Works count: 38
Citation count: 648
H-index: 13
I10-index: 17
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