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Maritha Kotze
Maritha Kotze
Extraordinary Professor of Human Genetics, Stellenbosch University
在 sun.ac.za 的电子邮件经过验证
标题
引用次数
引用次数
年份
The genetic structure and history of Africans and African Americans
SA Tishkoff, FA Reed, FR Friedlaender, C Ehret, A Ranciaro, A Froment, ...
science 324 (5930), 1035-1044, 2009
18122009
Genetic origins of lactase persistence and the spread of pastoralism in Africa
A Ranciaro, MC Campbell, JB Hirbo, WY Ko, A Froment, P Anagnostou, ...
The American Journal of Human Genetics 94 (4), 496-510, 2014
2472014
A third major locus for autosomal dominant hypercholesterolemia maps to 1p34. 1-p32
M Varret, JP Rabes, B Saint-Jore, A Cenarro, JC Marinoni, F Civeira, ...
The American journal of human genetics 64 (5), 1378-1387, 1999
2371999
APRI: a simple bedside marker for advanced fibrosis that can avoid liver biopsy in patients with NAFLD/NASH
FC Kruger, CR Daniels, M Kidd, G Swart, K Brundyn, C Van Rensburg, ...
South African Medical Journal 101 (7), 477-480, 2011
2182011
Prevalence of symptoms, comorbidities, fibrin amyloid microclots and platelet pathology in individuals with Long COVID/Post-Acute Sequelae of COVID-19 (PASC)
E Pretorius, C Venter, GJ Laubscher, MJ Kotze, SO Oladejo, LR Watson, ...
Cardiovascular diabetology 21 (1), 148, 2022
1652022
Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations.
MJ Kotze, WJ De Villiers, K Steyn, JA Kriek, AD Marais, E Langenhoven, ...
Arteriosclerosis and Thrombosis: A Journal of Vascular Biology 13 (10), 1460 …, 1993
1461993
The UMD‐LDLR database: additions to the software and 490 new entries to the database
L Villéger, M Abifadel, D Allard, JP Rabès, R Thiart, MJ Kotze, C Béroud, ...
Human mutation 20 (2), 81-87, 2002
1402002
LDLR Database: new additions to the database and the software, and results of the first molecular analysis
M Varret, JP Rabés, R Thiart, MJ Kotze, H Baron, A Cenarro, O Descamps, ...
Nucleic acids research 26 (1), 248-252, 1998
1211998
Fat mass and obesity-associated (FTO) gene polymorphisms are associated with physical activity, food intake, eating behaviors, psychological health, and modeled change in body …
J Harbron, L Van der Merwe, MG Zaahl, MJ Kotze, M Senekal
Nutrients 6 (8), 3130-3152, 2014
1162014
Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia
FJ Raal, AS Pappu, DR Illingworth, GJ Pilcher, AD Marais, JC Firth, ...
Atherosclerosis 150 (2), 421-428, 2000
1152000
The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners
MJ Kotze, E Langenhoven, L Warnich, L Plessis, AE Retief
Annals of human genetics 55 (2), 115-121, 1991
1051991
Spectrum of Mutations in the HFE Gene Implicated in Haemochromatosis and Porphyria
JNP de Villiers, R Hillermann, L Loubser, MJ Kotze
Human Molecular Genetics 8 (8), 1517-1522, 1999
1031999
Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria
L Warnich, MJ Kotze, IM Groenewald, JZ Groenewald, MG van Brakel, ...
Human Molecular Genetics 5 (7), 981-984, 1996
981996
Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor …
K Steyn, YP Goldberg, MJ Kotze, M Steyn, ASP Swanepoel, JM Fourie, ...
Human genetics 98, 479-484, 1996
941996
Mapping of novel regions of DNA gain and loss by comparative genomic hybridization in esophageal carcinoma in the Black and Colored populations of South Africa
L Du Plessis, E Dietzsch, M Van Gele, N Van Roy, P Van Helden, ...
Cancer research 59 (8), 1877-1883, 1999
921999
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
J Leggo, A Dalton, PJ Morrison, A Dodge, M Connarty, MJ Kotze, ...
Journal of medical genetics 34 (12), 982-985, 1997
911997
Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects
MJ Kotze, JNP de Villiers, RN Rooney, JJ Grobbelaar, EPG Mansvelt, ...
Blood Cells, Molecules, and Diseases 27 (1), 44-53, 2001
842001
FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia
JFG van Roggen, DR Van der Westhuyzen, GA Coetzee, AD Marais, ...
Arteriosclerosis, thrombosis, and vascular biology 15 (6), 765-772, 1995
781995
Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease …
R Durst, R Colombo, S Shpitzen, LB Avi, Y Friedlander, R Wexler, FJ Raal, ...
The American Journal of Human Genetics 68 (5), 1172-1188, 2001
752001
The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia
MJ Kotze, E Langenhoven, L Warnich, L Du Plessis, MP Marx, ...
Health & Medical Publishing Group, 1989
681989
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