A. Retief

发表

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia

M. Kotze, E. Langenhoven, J. Kriek, 1992, Clinical genetics.

Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1)

M. Parker, E. Retief, A. Retief, 2004, Human Genetics.

Molecular characterisation of a low-frequency mutation in exon 8 of the human low-density lipoprotein receptor gene.

M. Kotze, L. Warnich, E. Langenhoven, 1989, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

M. Kotze, H. Henderson, E. Langenhoven, 1989, Journal of medical genetics.

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

M. Kotze, L. Warnich, E. Langenhoven, 1991, Annals of human genetics.

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia.

A. Benadé, M. Kotze, K. Steyn, 1987, Journal of medical genetics.

Oligozoospermia: a seven-year survey of the incidence, chromosomal aberrations, treatment and pregnancy rate.

R. Menkveld, A. Retief, J. Van Zyl, 1975, International journal of fertility.

Ring chromosome 15 in a patient with features of Fryns' syndrome.

G. de Jong, A. Retief, R. Rossouw, 1989, Journal of medical genetics.

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.

J. Groenewald, M. Kotze, O. Loubser, 1998, Molecular and cellular probes.

The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis in families in South Africa.

M. Kotze, C. J. Oosthuizen, J. Grobbelaar, 1995, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Chromosome changes in 17 human neoplasms studied with banding

A. Retief, W. van Niekerk, Margaret F. Der Van Riet‐Fox, 1979, Cancer.

The gonads of human true hermaphrodites

W. V. Niekerk, A. Retief, 2004, Human Genetics.

Non-fluorescence of the Y-chromosome.

A. Retief, W. van Niekerk, 1971, Lancet.

Chromosome studies in 496 infertile males with a sperm count below 10 million/ml

M. Fox, R. Menkveld, J. Brusnicky, 2004, Human Genetics.

Histones removed by fixation: their role in the mechanism of chromosomal banding.

R. Rüchel, A. Retief, 1977, Experimental cell research.

Mapping of the variegate porphyria (VP) gene: Contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32

P. Meissner, C. V. Heerden, R. Hift, 1996, Human Genetics.

Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

G. de Jong, J. Brusnicky, A. Retief, 1986, Journal of medical genetics.

translocations phenotypes Balanced chromosome and abnormal A report of 5 cases

M. Fox, E. Dietzsch, J. Brusnicky, 1986 .

Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13.

M. Fox, L. Warnich, A. Retief, 1984, Cytogenetics and cell genetics.

Dinucleotide repeat polymorphism at the D5S99 locus on chromosome 5q33–34

L. Warnich, A. Retief, I. Groenewald, 1995, Human Genetics.

An anonymous DNA probe E141 (D5S99) on chromosome 5 detects an EcoRI polymorphism.

E. Dietzsch, L. Warnich, J. Herbert, 1990, Nucleic acids research.

Deletion mapping of 39 random isolated Y-chromosome DNA fragments

J. Fricke, J. Herbert, J. Brusnicky, 1990, Human Genetics.

The frequency of the delta F508 mutation in the cystic fibrosis genes of 71 unrelated South African cystic fibrosis patients.

J. Herbert, A. Retief, 1992, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Genetic mapping of gray leaf spot (GLS) resistance genes in maize

A. Lehmensiek, D. van Staden, A. Retief, 2001, Theoretical and Applied Genetics.

An anonymous human single copy genomic clone, D5S6 (M4) on chromosome 5 identifies a three allele RFLP.

M. Fox, E. Dietzsch, J. Fricke, 1986, Nucleic acids research.

An exon 4 mutation identified in the majority of South African familial hypercholesterolaemics.

M. Kotze, L. Warnich, E. Langenhoven, 1990, Journal of medical genetics.

A DNA polymorphism in the human low-density lipoprotein receptor gene.

P. Brink, M. Kotze, A. Retief, 1986, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia.

M. Kotze, L. Warnich, E. Langenhoven, 1989, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Improved visualization of the Bst EII RFLP of the human LDL receptor gene by co-digestion.

M. Kotze, E. Langenhoven, A. Retief, 1987, Nucleic Acids Research.

Highly informative dinucleotide repeat polymorphism at the D11S29 locus on chromosome 11q23

L. Warnich, L. Theart, A. Retief, 1992, Human Genetics.

An anonymous human single copy genomic clone, D11S29 (L7) at 11q23, identifies a moderately frequent RFLP.

M. Fox, E. Dietzsch, M. Kotze, 1986, Nucleic acids research.

A RFLP associated with the low-density lipoprotein receptor gene (LDLR)

Maritha J. Kotze, E. Langenhoven, E. Dietzsch, 1987, Nucleic Acids Res..

A 3-year cytogenetic survey of 9 661 patients in South Africa.

S. Jansen, R. Bernstein, M. Nelson, 1983, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

W. V. D. Van de Ven, E. Schoenmakers, J. Groenewald, 1996, Human molecular genetics.

A microsatellite-based index map of human chromosome 11.

J. Weber, Z. Wang, P. Kramer, 1993, Human molecular genetics.

Cytogenetics and recombinant technology in male infertility.

A. Retief, 1986, Archives of andrology.

A three-allele RFLP recognised by an anonymous sequence localized to 3p14-p21 [D3S11 (E41)].

E. Dietzsch, M. Kotze, J. Fricke, 1986, Nucleic Acids Research.

Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene

M. Kotze, L. Warnich, E. Langenhoven, 1992, Human Genetics.

No marker (X) syndrome in autistic children

D. J. Coetzee, P. Venter, J. Op't Hof, 2004, Human Genetics.

A Possible Increase in the Number of Metaphase I Spermatocytes in Testicular Biopsy of Infertile Men with Chromosomal Aberrations

R. Menkveld, A. Retief, J. A. Zyl, 2009, Andrologia.

Confirmation of a balanced chromosomal translocation using molecular techniques

J. Overhauser, A. Retief, R. Smart, 1989, Prenatal diagnosis.