Hillermann R - Search Results

1

Human glial cell line-derived neurotrophic factor (GDNF) maps to chromosome 5.

Bermingham N, Hillermann R, Gilmour F, Martin JE, Fisher EM. Bermingham N, et al. Among authors: hillermann r. Hum Genet. 1995 Dec;96(6):671-3. doi: 10.1007/BF00210297. Hum Genet. 1995. PMID: 8522325

2

The SHB adaptor protein maps to human chromosome 9.

Yulug IG, Hillermann R, Fisher EM. Yulug IG, et al. Among authors: hillermann r. Genomics. 1994 Dec;24(3):615-7. doi: 10.1006/geno.1994.1681. Genomics. 1994. PMID: 7713524 No abstract available.

3

Friedreich's ataxia: a defect in signal transduction?

Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S. Carvajal JJ, et al. Among authors: hillermann r. Hum Mol Genet. 1995 Aug;4(8):1411-9. doi: 10.1093/hmg/4.8.1411. Hum Mol Genet. 1995. PMID: 7581382

4

Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5.

Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S. Hillermann R, et al. Cytogenet Cell Genet. 1995;71(3):214-6. doi: 10.1159/000134112. Cytogenet Cell Genet. 1995. PMID: 7587379

5

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S. Carvajal JJ, et al. Among authors: hillermann r. Nat Genet. 1996 Oct;14(2):157-62. doi: 10.1038/ng1096-157. Nat Genet. 1996. PMID: 8841185

6

Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S. Pook MA, et al. Among authors: hillermann r. Genomics. 1997 May 15;42(1):170-2. doi: 10.1006/geno.1997.4726. Genomics. 1997. PMID: 9177790

7

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. Among authors: hillermann r. Hum Mol Genet. 1999 Aug;8(8):1517-22. doi: 10.1093/hmg/8.8.1517. Hum Mol Genet. 1999. PMID: 10401000

8

The Glu298Asp variant of the endothelial nitric oxide synthase gene is associated with an increased risk for abruptio placentae in pre-eclampsia.

Hillermann R, Carelse K, Gebhardt GS. Hillermann R, et al. J Hum Genet. 2005;50(8):415-419. doi: 10.1007/s10038-005-0270-8. Epub 2005 Jul 30. J Hum Genet. 2005. PMID: 16059745

9

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.

Scholtz CL, Peeters AV, Hoogendijk CF, Thiart R, de Villiers JN, Hillermann R, Liu J, Marais AD, Kotze MJ. Scholtz CL, et al. Among authors: hillermann r. Hum Mol Genet. 1999 Oct;8(11):2025-30. doi: 10.1093/hmg/8.11.2025. Hum Mol Genet. 1999. PMID: 10484771

10

Analysis of two mutations in the MTHFR gene associated with mild hyperhomocysteinaemia--heterogeneous distribution in the South African population.

Scholtz CL, Odendaal HJ, Thiart R, Loubser L, Hillermann R, Delport R, Vermaak WJ, Kotze MJ. Scholtz CL, et al. Among authors: hillermann r. S Afr Med J. 2002 Jun;92(6):464-7. S Afr Med J. 2002. PMID: 12146133

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