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 Hypercholes... von Scholtz, Charlotte L., Peeters, Armand V., Hoogendijk, Christiaan F., Thiart, Rochelle, de Villiers, J.N.P., Hillermann, Renate, Liu, Jingwen, Marais, A. David, Kotze, Maritha J.

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Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia von Thiart, Rochelle, Scholtz, Charlotte L, Vergotine, Joseph, Hoogendijk, Christiaan F, de Villiers, J Nico P, Nissen, Henrik, Brusgaard, Klaus, Gaffney, Dairena, Hoffs, Michael S, Vermaak, W J Hayward, Kotze, Maritha J

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The prenatal development of the optic fissure in colobomatous microphthalmia von Hero, I, Farjah, M, Scholtz, CL

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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 von 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

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NEUROPATHOLOGY OF THE BRAIN IN HIV INFECTION von Lantos, P.L., Scholtz, C.L., Mclaughlin, J.E., Berry, C.L., Tighe, J.R.

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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 von Hoogendijk, C.F, Scholtz, C.L, Pimstone, S.M, Ehrenborg, E, Kastelein, J.J P, Defesche, J.C, Thiart, R, du Plessis, L, de Villiers, J.N.P, Zaahl, M.G, Delport, R, Rubinsztein, D.C, Raffel, L.J, Grim, C.E, Mediene-Benchekor, S, Amouyel, P, Brousseau, T, Steyn, K, Lombard, C.J, Hayden, M.R, Kotze, M.J

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Diffuse axonal injury in early infancy von Vowles, G H, Scholtz, C L, Cameron, J M

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Selective and asymmetric vulnerability of corticospinal and spinocerebellar tracts in motor neuron disease von Swash, M, Scholtz, C L, Vowles, G, Ingram, D A

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OMNIPAUSE NEURONS IN TWO CASES OF OPSOCLONUS ASSOCIATED WITH OAT CELL CARCINOMA OF THE LUNG von RIDLEY, A., KENNARD, C., SCHOLTZ, C.L., B¨TTNER-ENNEVER, J.A., SUMMERS, B., TURNBULL, A.

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A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia von KOTZE, M. J, DE VILLIERS, J. N. P, LOUBSER, O, THIART, R, SCHOLTZ, C. L, RAAL, F. J

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Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse von Scholtz, C L, Chan, K K

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Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restrictio... von Gebhardt, Gabriël S., Scholtz, Charlotte L., Hillermann, Renate, Odendaal, Hein J.

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Familial adenomatous polyposis coli in South Africa : Molecular basis and diagnosis von GROBBELAAR, J. J, FORTUIN, R, SCHOLTZ, C. L, ZIKIND, A, LANGENHOVEN, E, WYLLIE, A. H, BUBB, V. J, KOTZE, M. J

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Toxocara canis larvae in the brain of a British child von Hill, Ian R., Denham, D.A., Scholtz, C.L.

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Primary brain trauma in non-accidental injury von Calder, I M, Hill, I, Scholtz, C L

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Cerebellar degeneration in dominantly inherited spastic paraplegia von Scholtz, C L, Swash, M

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Health implications and counselling for paternity testing von Kotze, MJ, Scholtz, CL, Opperman, P

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White matter damage following acute head injury von Vanezis, P., Chan, K.K., Scholtz, C.L.

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Brain damage after cardiopulmonary by-pass: correlations between neurophysiological and neuropathological findings von Malone, M, Prior, P, Scholtz, C L

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A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi von Peeters, A V, Kotze, M J, Scholtz, C L, De Waal, L F, Rubinsztein, D C, Coetzee, G A, Zuliani, G, Streiff, R, Liu, J, van der Westhuyzen, D R

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