ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels
Zwarts, KY, Clee, SM, Zwinderman, AH, Engert, JC, Singaraja, R, Loubser, O, James, E, Roomp, K, Hudson, TJ, Jukema, JW, Kastelein, JJP, Hayden, MR
Published in Clinical genetics (01.02.2002)
Published in Clinical genetics (01.02.2002)
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Journal Article
Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia
Thiart, R, Varret, M, Lintott, CJ, Scott, RS, Loubser, O, du Plessis, L, de Villiers, JNP, Boileau, C, Kotze, MJ
Published in Molecular and cellular probes (01.10.2000)
Published in Molecular and cellular probes (01.10.2000)
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Journal Article
Caspase Cleavage of Mutant Huntingtin Precedes Neurodegeneration in Huntington's Disease
Wellington, Cheryl L, Ellerby, Lisa M, Gutekunst, Claire-Anne, Rogers, Danny, Warby, Simon, Graham, Rona K, Loubser, Odell, van Raamsdonk, Jeremy, Singaraja, Roshni, Yang, Yu-Zhou, Gafni, Juliette, Bredesen, Dale, Hersch, Steven M, Leavitt, Blair R, Roy, Sophie, Nicholson, Donald W, Hayden, Michael R
Published in The Journal of neuroscience (15.09.2002)
Published in The Journal of neuroscience (15.09.2002)
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Journal Article
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
Kotze, M.J, De Villiers, J.N.P, Groenewald, J.Z, Rooney, R.N, Loubser, O, Thiart, R, Oosthuizen, C.J.J, van Niekerk, M.M, Groenewald, I.M, Retief, A.E, Warnich, L
Published in Molecular and cellular probes (01.10.1998)
Published in Molecular and cellular probes (01.10.1998)
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Journal Article
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry
Loubser, Odell, Marais, A David, Kotze2, Maritha J, Godenir, Nicole, Thiart2, Rochelle, Scholtz2, Charlotte L, De Villiers2, J Nico P, Hillermann2, Renate, Firth, Jean C, Weich, Hellmuth Fh, Maritz, Frans, Jones2, Sheena, Van Der Westhuyzen, Deneys R
Published in Clinical genetics (01.05.1999)
Published in Clinical genetics (01.05.1999)
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Journal Article
CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians
KOTZE, M. J, LOUBSER, O, THIART, R, DE VILLIERS, J. N. P, LANGENHOVEN, E, THEART, L, STEYN, K, MARAIS, A. D, RAAL, F. J
Published in Clinical genetics (01.06.1997)
Published in Clinical genetics (01.06.1997)
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Journal Article
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
KOTZE, M. J, DE VILLIERS, J. N. P, LOUBSER, O, THIART, R, SCHOLTZ, C. L, RAAL, F. J
Published in Human genetics (01.07.1997)
Published in Human genetics (01.07.1997)
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Journal Article
Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia
Thiart, Rochelle, Loubser, Odell, de Villiers, J. Nico P., Marx, Munro P., Zaire, Reinhardt, Raal, Frederick J., Kotze, Maritha J.
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation
Theart, L, Kotze, M J, Langenhoven, E, Loubser, O, Peeters, A V, Lintott, C J, Scott, R S
Published in Journal of medical genetics (01.05.1995)
Published in Journal of medical genetics (01.05.1995)
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Journal Article
Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family
Thiart, Rochelle, Loubser, Odell, de Villiers, J.Nico P, Santos, Maria, Kotze, Maritha J
Published in Molecular and cellular probes (01.12.1997)
Published in Molecular and cellular probes (01.12.1997)
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Journal Article
Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene
Kotze, M J, Thiart, R, Loubser, O, de Villiers, J N, Santos, M, Vargas, M A, Peeters, A V
Published in Human genetics (01.10.1996)
Published in Human genetics (01.10.1996)
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Journal Article
Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa
Kotze, Maritha J., Peeters, Armand V., Loubser, Odell, Theart, Leonora, du Plessis, Lana, Hayes, Vanessa M., de Jong, Greetje, de Villiers, J. Nico P., Lombard, Carl J., Hansen, Peter S., Raal, Frederick J.
Published in Clinical genetics (01.07.1998)
Published in Clinical genetics (01.07.1998)
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Journal Article
FLÜSSIGKRISTALLMATERIALIEN, -MISCHUNGEN UND -VORRICHTUNGEN
LOUBSER, CHRISTA, UNIVERSITY OF CAPE TOWN 7700 RONDEBOSCH, ZA, STYRING, PETER, UNIVERSITY OF HULL HULL HU6 7RX, GB, WESSELS, PHILIPPUS, LODEWICUS, UNIVERSITY OF PRETORIA 0002 PRETORIA, ZA, GOODBY, JOHN WILLIAM, HULL HU6 7RX, GB
Year of Publication 15.04.1999
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Year of Publication 15.04.1999
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