de Villiers JN - Search Results

1

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.

Thiart R, Loubser O, de Villiers JN, Santos M, Kotze MJ. Thiart R, et al. Among authors: de villiers jn. Mol Cell Probes. 1997 Dec;11(6):457-8. doi: 10.1006/mcpr.1997.0134. Mol Cell Probes. 1997. PMID: 9500809

2

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene.

Kotze MJ, Thiart R, Loubser O, de Villiers JN, Santos M, Vargas MA, Peeters AV. Kotze MJ, et al. Among authors: de villiers jn. Hum Genet. 1996 Oct;98(4):476-8. doi: 10.1007/s004390050242. Hum Genet. 1996. PMID: 8792825

3

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

Kotze MJ, de Villiers JN, Loubser O, Thiart R, Scholtz CL, Raal FJ. Kotze MJ, et al. Among authors: de villiers jn. Hum Genet. 1997 Jul;100(1):101-3. doi: 10.1007/s004390050473. Hum Genet. 1997. PMID: 9225977

4

CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolaemia among South African Indians.

Kotze MJ, Loubser O, Thiart R, de Villiers JN, Langenhoven E, Theart L, Steyn K, Marais AD, Raal FJ. Kotze MJ, et al. Among authors: de villiers jn. Clin Genet. 1997 Jun;51(6):394-8. doi: 10.1111/j.1399-0004.1997.tb02497.x. Clin Genet. 1997. PMID: 9237502

5

Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.

Thiart R, Loubser O, de Villiers JN, Marx MP, Zaire R, Raal FJ, Kotze MJ. Thiart R, et al. Among authors: de villiers jn. Hum Mutat. 1998;Suppl 1:S232-3. doi: 10.1002/humu.1380110174. Hum Mutat. 1998. PMID: 9452095 No abstract available.

6

Mutation analysis in familial hypercholesterolemia patients of different ancestries: identification of three novel LDLR gene mutations.

Callis M, Jansen S, Thiart R, de Villiers JN, Raal FJ, Kotze MJ. Callis M, et al. Among authors: de villiers jn. Mol Cell Probes. 1998 Jun;12(3):149-52. doi: 10.1006/mcpr.1998.0164. Mol Cell Probes. 1998. PMID: 9664576

7

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa.

Kotze MJ, Peeters AV, Loubser O, Theart L, du Plessis L, Hayes VM, de Jong G, de Villiers JN, Lombard CJ, Hansen PS, Raal FJ. Kotze MJ, et al. Among authors: de villiers jn, de jong g. Clin Genet. 1998 Jul;54(1):74-8. doi: 10.1111/j.1399-0004.1998.tb03698.x. Clin Genet. 1998. PMID: 9727745

8

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 MJ, De Villiers JN, Groenewald JZ, Rooney RN, Loubser O, Thiart R, Oosthuizen CJ, van Niekerk MM, Groenewald IM, Retief AE, Warnich L. Kotze MJ, et al. Among authors: de villiers jn. Mol Cell Probes. 1998 Oct;12(5):293-300. doi: 10.1006/mcpr.1998.0188. Mol Cell Probes. 1998. PMID: 9778454

9

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

de Villiers JN, Hillermann R, Loubser L, Kotze MJ. de Villiers JN, et al. Hum Mol Genet. 1999 Aug;8(8):1517-22. doi: 10.1093/hmg/8.8.1517. Hum Mol Genet. 1999. PMID: 10401000

10

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.

Loubser O, Marais AD, Kotze MJ, Godenir N, Thiart R, Scholtz CL, de Villiers JN, Hillermann R, Firth JC, Weich HF, Maritz F, Jones S, van der Westhuyzen DR. Loubser O, et al. Among authors: de villiers jn. Clin Genet. 1999 May;55(5):340-5. doi: 10.1034/j.1399-0004.1999.550507.x. Clin Genet. 1999. PMID: 10422804

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

47 results

Search Page

Filters