Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Rochelle Thiart"'
1
Simultaneous Detection of Multiple Familial Hypercholesterolemia Mutations Facilitates an Improved Diagnostic Service in South African Patients at High Risk of Cardiovascular Disease
Autor: Nico J. P. de Villiers, Gernot Kriegshäuser, Fritz Kury, Charlotte L. Scholtz, Rochelle Thiart, Maritha J. Kotze, Anne Moritz, Christian Oberkanins
Publikováno v: Molecular Diagnosis. 7:169-174
DNA testing can provide a definitive diagnosis of familial hypercholesterolemia (FH), even in the absence of the clinical characteristics of this inherited cardiovascular disease (CVD) subtype. Our aim was to design a rapid diagnostic assay capable o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a290bac1fe9dcbba90f28bfa5f5b6493
https://doi.org/10.1007/bf03260034
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2
Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics
Autor: Maritha J. Kotze, Armand V. Peeters, I. De Leeuw, L. Van Gaal, Rochelle Thiart, C.E.M. De Block
Publikováno v: Molecular and cellular probes
It is generally believed that patients with familial hypercholesterolaemia (FH) have a higher cardiovascular risk than hypercholesterolaemics without a defect in the low-density lipoprotein receptor (LDLR) gene. However, no conclusive evidence to sup
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452bbdf07005777f057237b1ca477ccf
https://doi.org/10.1006/mcpr.2001.0378
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3
Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
Autor: J. Vergotine, D. Gaffney, Christiaan F. Hoogendijk, Klaus Brusgaard, Charlotte L. Scholtz, Rochelle Thiart, Henrik Nissen, J. N. P. De Villiers, W. J. Vermaak, M. S. Hoffs, Maritha J. Kotze
Publikováno v: Thiart, R, Scholtz, C L, Vergotine, J, Hoogendijk, C F, de Villiers, J N P, Nissen, H, Brusgaard, K, Gaffney, D, Hoffs, M S, Hayward Vermaak, W J & Kotze, M J 2000, ' Predominance of a 6-bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia ', Journal of Medical Genetics, vol. 37, no. 7, pp. 514-19 . https://doi.org/10.1136/jmg.37.7.514
Scopus-Elsevier
In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its reported virtual absence in the black population in general. In this study, th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c547b5241cc4e455704ef56807a201e
https://doi.org/10.1136/jmg.37.7.514
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4
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
Autor: Rochelle Thiart, Renate Hillermann, Armand V. Peeters, Jingwen Liu, Christiaan F. Hoogendijk, Charlotte L. Scholtz, J. N. P. De Villiers, A. David Marais, Maritha J. Kotze
Publikováno v: Human Molecular Genetics. 8:2025-2030
The low-density lipoprotein receptor (LDLR) plays a major role in cholesterol homeostasis. Mutations in the regulatory region of the LDLR gene, although rare, have been shown to alter transcriptional activity of the gene and can cause familial hyperc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ff12367446c6abaf0eeec2e9253e573
https://doi.org/10.1093/hmg/8.11.2025
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5
Intronic mutations at splice junctions in the low-density lipoprotein receptor gene
Autor: Rochelle Thiart, Maritha J. Kotze, Armand V. Peeters, J. N. P. De Villiers, Henrik Jensen, L. Van Gaal
Publikováno v: Aarhus University
Peeters, A, Thiart, R, de Villiers, J N P, Jensen, H K, Van Gaal, L F & Kotze, M J 1999, ' Intronic mutations at splice junctions in the low-density lipoprotein receptor gene ', Mol Cell Probes, no. 13, pp. 257-260 .
Molecular and cellular probes
Most of the low-density lipoprotein receptor (LDLR) gene mutations causing familial hypercholesterolemia (FH) have been identified in the coding region of the gene. We have screened 180 patients for disease-related gene defects and report the identif
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aecbfb2250d140d664dfc810d1df1a9
https://doi.org/10.1006/mcpr.1999.0244
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6
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
Autor: Odell Loubser, J. N. P. De Villiers, Rochelle Thiart, A.E. Retief, Roberta N. Rooney, Louise Warnich, C. J. J. Oosthuizen, Maritha J. Kotze, M.M van Niekerk, Ilse M. Groenewald, Johannes Z. Groenewald
Publikováno v: Molecular and Cellular Probes. 12:293-300
A subset of probands from 11 South African families with clinical and/or biochemical features of variegate porphyria (VP), but without the known protoporphyrinogen oxidase (PPOX) gene defects identified previously in the South African population, wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85542dce3a76605606bc63351d546ca0
https://doi.org/10.1006/mcpr.1998.0188
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7
Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations
Autor: Stander Jansen, J. Nico P. de Villiers, Rochelle Thiart, Maritha J. Kotze, Magda Callis, Frederick J. Raal
Publikováno v: Molecular and Cellular Probes. 12:149-152
Twelve familial hypercholesterolemia (FH) patients of different ancestries living in South Africa were subjected to mutation analysis of the low-density lipoprotein receptor (LDLR) gene. Nine different mutations were identified in 10 patients. Six of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff88b3739b6b3609a31548346e884ecf
https://doi.org/10.1006/mcpr.1998.0164
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9
Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations
Autor: Rochelle Thiart, Magda Callis, Armand V. Peeters, Leonora Theart, E. Langenhoven, Maritha J. Kotze
Publikováno v: Europe PubMed Central
We have developed a rapid, nonradioactive screening test enabling the simultaneous analysis of three low-density lipoprotein receptor (LDLR) gene mutations (D154N, D206E, and V408M), which together account for familial hypercholesterolemia (FH) in ap
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f775eb495b153a2274c0c8ed4f148550
https://doi.org/10.1101/gr.4.6.352
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10
A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia
Autor: Odell Loubser, J. Nico P. de Villiers, Rochelle Thiart, Frederick J. Raal, Charlotte L. Scholtz, Maritha J. Kotze
Publikováno v: Human Genetics. 100:101-103
Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case and seven of her family members, by u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e931b5fce9c56824b71ff16eb64bece0
https://doi.org/10.1007/s004390050473
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