Rochelle Thiart - Concepedia

Author

Rochelle Thiart

Stellenbosch University

Also Known As

R Thiart, R. Thiart, Rochelle Thiart

Publications

651

Citations

H-Index

Concepts

All Affiliations

Stellenbosch University University of Cape Town University of the Witwatersrand South African Medical Research Council Tygerberg Hospital

About

Rochelle Thiart is an author at Stellenbosch University specializing in genetics, medicine, and atherosclerosis.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	11	362
2	Public Health	6	6	132
3	Natural Sciences	2	2	24
4	Biology	1	1	13
5	Biostatistics	1	1	53

Rochelle Thiart

Publications

503

Citations

H-Index

Page 1

	Year	Citations
A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 Mathilde Varret, Jean‐Pierre Rabès, Bruno Saint-Jore, The American Journal of Human Genetics Metabolic SyndromeLipid DisorderGeneticsHuman PolymorphismPathology	1999	170
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations. Maritha J. Kotze, Leonora Theart, M Callís, Genome Research Simultaneous DetectionGeneticsGenetic EpidemiologyHuman PolymorphismPathology	1995	53
First report of CFTR mutations in black cystic fibrosis patients of southern African origin. Soukeyna Carles, Marie Desgeorges, A Goldman, Journal of Medical Genetics	1996	52
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry Odell Loubser, A. David Marais, Maritha J. Kotze, Clinical Genetics	1999	33
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians Maritha J. Kotze, Odell Loubser, Rochelle Thiart, Clinical Genetics South African IndiansGeneticsGenetic EpidemiologyHuman PolymorphismHyperlipidemia	1997	28
Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote E. Langenhoven, Louise Warnich, Rochelle Thiart, Atherosclerosis Receptor-negative Familial HypercholesterolemiaLipid DisorderGenetic DisorderGeneticsInherited Metabolic Disease	1996	21
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia Rochelle Thiart Journal of Medical Genetics	2000	21
Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population. Charlotte L. Scholtz, Hein J. Odendaal, Rochelle Thiart, PubMed	2002	20
Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease Maritha J. Kotze, Gernot Kriegshäuser, Rochelle Thiart, Molecular Diagnosis Genetic TestingCardiovascular DiseaseSouth African PatientsGlobal HealthGenetic Epidemiology	2003	17
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia Maritha J. Kotze, J. Nico P. de Villiers, Odell Loubser, Human Genetics Lipid DisorderAllelic VariantHeterozygous Familial HypercholesterolemiaGeneticsInherited Metabolic Disease	1997	15

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