FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Rochelle Thiart

Research Profile

Chemicals & Drugs

Disorders

Geographic Areas

South Africa

Phenomena

Physiology

Concepts & Ideas

Pedigree

Procedures

Living Beings

Heterozygote

Genes & Molecular Sequences

Alleles

Co-author Network

Publications

TOP 3
CF Hoogendijk; Charlotte L Scholtz; S M Pimstone; E Ehrenborg; J J P Kastelein; JC Defesche; Rochelle Thiart; Lana du Plessis; Nico de Villiers; Monique G Zaahl; Rhena Delport; David C Rubinsztein; L J Raffel; Clarence Grim; S Mediene-Benchekor; P Amouyel; T Brousseau; Krisela Steyn; Carl Lombard; Michael R Hayden; Maritha J Kotze
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.
Maritha J Kotze; Gernot Kriegshäuser; Rochelle Thiart; Nico J P de Villiers; Charlotte L Scholtz; fritz kury; Anne Moritz; Christian Oberkanins
Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.
Ludovic Villéger; Marianne Abifadel; Delphine Allard; Jean-Pierre Rabès; Rochelle Thiart; Maritha J Kotze; Christophe Béroud; Claudine Junien; catherine boileau; Mathilde Varret
The UMD-LDLR database: additions to the software and 490 new entries to the database.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Rochelle Thiart (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2003: CF Hoogendijk; Charlotte L Scholtz; S M Pimstone; E Ehrenborg; J J P Kastelein; JC Defesche; Rochelle Thiart; Lana du Plessis; Nico de Villiers; Monique G Zaahl; Rhena Delport; David C Rubinsztein; L J Raffel; Clarence Grim; S Mediene-Benchekor; P Amouyel; T Brousseau; Krisela Steyn; Carl Lombard; Michael R Hayden; Maritha J Kotze
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.
Molecular and cellular probes 2003;17(4):175-81.
2003: Maritha J Kotze; Gernot Kriegshäuser; Rochelle Thiart; Nico J P de Villiers; Charlotte L Scholtz; fritz kury; Anne Moritz; Christian Oberkanins
Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2003;7(3-4):169-74.
2002: Ludovic Villéger; Marianne Abifadel; Delphine Allard; Jean-Pierre Rabès; Rochelle Thiart; Maritha J Kotze; Christophe Béroud; Claudine Junien; catherine boileau; Mathilde Varret
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Human mutation 2002;20(2):81-7.
2002: Charlotte L Scholtz; Hein J Odendaal; Rochelle Thiart; Lynzie Loubser; Renate Hillermann; Rhena Delport; W J Hayward Vermaak; Maritha J Kotze
Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2002;92(6):464-7.
2001: LF Van Gaal; AV Peeters; Christophe E M De Block; I H de Leeuw; Rochelle Thiart; Maritha J Kotze
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.
Molecular and cellular probes 2001;15(6):329-36.
2001: J Vergotine; Rochelle Thiart; Maritha J Kotze
Clinical versus molecular diagnosis of heterozygous familial hypercholesterolaemia in the diverse South African population.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2001;91(12):1053-9.
2001: J Vergotine; Rochelle Thiart; E Langenhoven; Renate Hillermann; G de Jong; Maritha J Kotze
Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.
Genetic counseling (Geneva, Switzerland) 2001;12(2):121-7.
2000: Rochelle Thiart; Mathilde Varret; C J Lintott; R S Scott; O Loubser; Lana du Plessis; Nico de Villiers; catherine boileau; Maritha J Kotze
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.
Molecular and cellular probes 2000;14(5):299-304.
2000: Rochelle Thiart; Charlotte L Scholtz; J Vergotine; CF Hoogendijk; Nico de Villiers; H Nissen; Klaus Brusgaard; Dairena Gaffney; Michael S Hoffs; W J Hayward Vermaak; Maritha J Kotze
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
Journal of medical genetics 2000;37(7):514-9.
1999: Charlotte L Scholtz; AV Peeters; CF Hoogendijk; Rochelle Thiart; Nico de Villiers; Renate Hillermann; J Liu; Adrian David Marais; Maritha J Kotze
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.
Human molecular genetics 1999;8(11):2025-30.
1999: AV Peeters; Rochelle Thiart; Nico de Villiers; H K Jensen; LF Van Gaal; Maritha J Kotze
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene.
Molecular and cellular probes 1999;13(4):257-60.
1999: O Loubser; Adrian David Marais; Maritha J Kotze; N Godenir; Rochelle Thiart; Charlotte L Scholtz; Nico de Villiers; Renate Hillermann; Jean Catherine Firth; H F Weich; F Maritz; S Jones; Deneys R van der Westhuyzen
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
Clinical genetics 1999;55(5):340-5.
1999: Mathilde Varret; Jean-Pierre Rabès; B Saint-Jore; Ana Cenarro; J C Marinoni; Fernando Civeira; Martine Devillers; Michel Krempf; M Coulon; Rochelle Thiart; Maritha J Kotze; H Schmidt; J C Buzzi; Gerhard Kostner; Stefano Bertolini; Miguel Pocovi; A Rosa; Michel Farnier; M Martinez; Claudine Junien; catherine boileau
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32.
American journal of human genetics 1999;64(5):1378-87.
1998: Maritha J Kotze; Nico de Villiers; J Z Groenewald; RN Rooney; O Loubser; Rochelle Thiart; C J Oosthuizen; M M van Niekerk; IM Groenewald; A E Retief; Louise Warnich
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.
Molecular and cellular probes 1998;12(5):293-300.
1998: M Callis; S Jansen; Rochelle Thiart; Nico de Villiers; Frederick J Raal; Maritha J Kotze
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.
Molecular and cellular probes 1998;12(3):149-52.
1998: Rochelle Thiart; O Loubser; Nico de Villiers; MP Marx; Reinhard Zaire; Frederick J Raal; Maritha J Kotze
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
Human mutation 1998;Suppl 1():S232-3.
1998: Mathilde Varret; J P Rabés; Rochelle Thiart; Maritha J Kotze; Heike Baron; Ana Cenarro; O Descamps; M Ebhardt; J C Hondelijn; Gerhard Kostner; Y Miyake; Miguel Pocovi; H Schmidt; Herbert Schuster; Manfred Stuhrmann; T Yamamura; Claudine Junien; Christophe Béroud; catherine boileau
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Nucleic acids research 1998;26(1):248-52.
1997: Rochelle Thiart; O Loubser; Nico de Villiers; M Santos; Maritha J Kotze
Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.
Molecular and cellular probes 1997;11(6):457-8.
1997: Maritha J Kotze; Nico de Villiers; O Loubser; Rochelle Thiart; Charlotte L Scholtz; Frederick J Raal
A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
Human genetics 1997;100(1):101-3.
1997: Maritha J Kotze; O Loubser; Rochelle Thiart; Nico de Villiers; E Langenhoven; L Theart; Krisela Steyn; Adrian David Marais; Frederick J Raal
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.
Clinical genetics 1997;51(6):394-8.
1996: Maritha J Kotze; Rochelle Thiart; O Loubser; Nico de Villiers; M Santos; M A Vargas; AV Peeters
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.
Human genetics 1996;98(4):476-8.
1996: E Langenhoven; Louise Warnich; Rochelle Thiart; David C Rubinsztein; Deneys R van der Westhuyzen; Adrian David Marais; Maritha J Kotze
Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.
Atherosclerosis 1996;125(1):111-9.
1995: Maritha J Kotze; L Theart; M Callis; AV Peeters; Rochelle Thiart; E Langenhoven
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations.
PCR methods and applications 1995;4(6):352-6.