R. Hillermann

发表

Altered circulating neurokinin B (NKB) levels are not due to sequence variants in the encoding genes.

S. Gebhardt, G. Rebello, Kashefa Carelse Tofa, 2008, European journal of obstetrics, gynecology, and reproductive biology.

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.

A. Marais, M. Kotze, J. D. de Villiers, 1999, Human molecular genetics.

Prediction of preeclampsia - a workshop report.

B. Huppertz, R. Romero, N. G. Than, 2008, Placenta.

A novel exonic variant (221delT) in the LGALS13 gene encoding placental protein 13 (PP13) is associated with preterm labour in a low risk population.

S. Gebhardt, N. Bruiners, R. Hillermann, 2009, Journal of reproductive immunology.

Lipoprotein(a) determination and risk of cardiovascular disease in South African patients with familial hypercholesterolaemia.

H. Odendaal, G. Utermann, M. Kotze, 2000, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

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

M. Kotze, J. D. de Villiers, R. Hillermann, 1999, Human molecular genetics.

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

R. Hillermann, G. Gebhardt, Kashefa Carelse, 2005, Journal of Human Genetics.

Third trimester plasma neurokinin B levels in women with and without preeclampsia

S. Gebhardt, V. Geissbuehler, René Moser, 2008, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Altered plasma neurokinin B levels in patients with pre-eclampsia

S. Gebhardt, V. Geissbuehler, René Moser, 2007, Archives of Gynecology and Obstetrics.

Parallel assessment of circulatory fetal DNA and corticotropin-releasing hormone mRNA in early- and late-onset preeclampsia.

W. Holzgreve, S. Gebhardt, X. Zhong, 2005, Clinical chemistry.

Analysis of plasma elastase levels in early and late onset preeclampsia

W. Holzgreve, S. Gebhardt, A. Gupta, 2005, Archives of Gynecology and Obstetrics.

Prediction of Preeclampsia e A Workshop Report

B. Huppertz, R. Romero, V. Cozzi, 2008 .

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

E. Fisher, N. Bermingham, Joanne E. Martin, 1995, Human Genetics.

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

R. Williamson, J. Hsuan, S. Minogue, 1996, Nature Genetics.

Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction.

H. Odendaal, R. Hillermann, C. L. Scholtz, 2001, European journal of obstetrics, gynecology, and reproductive biology.

Minimal Alteration in the Ratio of Circulatory Fetal DNA to Fetal Corticotropin-Releasing Hormone mRNA Level in Preeclampsia

B. Huppertz, W. Holzgreve, S. Gebhardt, 2006, Fetal Diagnosis and Therapy.

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

J. Weber, J. Beckmann, M. Farrall, 1993, Nature Genetics.

Maternal and fetal single nucleotide polymorphisms in the epoxide hydrolase and gluthatione S-transferase P1 genes are not associated with pre-eclampsia in the Coloured population of the Western Cape, South Africa

E. Steegers, R. Hillermann, K. Carelse-Tofa, 2004, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Multiple sclerosis, porphyria-like symptoms, and a history of iron deficiency anemia in a family of Scottish descent.

M. Kotze, J. Cohen, R. Hillermann, 1999, American journal of medical genetics.

SAMJ ANALYSIS OF TWO MUTATIONS IN THE MTHFR GENE ASSOCIATED WITH MILD HYPERHOMOCYSTEIN-AEMIA-HETEROGENEOUS DISTRIBUTION IN THE SOUTH AFRICAN POPULATION

Hein, R. Hillermann, Rhena Delport, 2015 .

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

H. Odendaal, M. Kotze, W. Vermaak, 2002, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Friedreich's ataxia: a defect in signal transduction?

R. Williamson, M. Pook, D. Wilkes, 1995, Human molecular genetics.

Prenatal diagnosis of familial hypercholesterolemia: importance of DNA analysis in the high-risk South African population.

M. Kotze, R. Hillermann, R. Thiart, 2001, Genetic counseling.

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

M. Pook, R. Hillermann, S. Chamberlain, 1997, Genomics.