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List of works by Maritha Kotze

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi ⬇️

scientific article published on May 1, 1998

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

scientific article published on 01 July 1986

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

scientific article published on January 1987

A de novo duplication in the low density lipoprotein receptor gene ⬇️

scientific article published on January 1, 1995

A double mutant LDL receptor allele in a Cypriot family with heterozygous familial hypercholesterolemia ⬇️

scientific article published on July 1, 1997

A framework for tiered informed consent for health genomic research in Africa

scientific article published on 01 November 2019

A nonsense mutation (Arg-196-Term) in exon 6 of the human TP53 gene identified in small cell lung carcinoma

scientific article published on 01 October 1996

A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family.

scientific article

A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene

scientific article published on 01 February 1995

A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations

scientific article published on 01 January 2000

APRI: a simple bedside marker for advanced fibrosis that can avoid liver biopsy in patients with NAFLD/NASH.

scientific article published on 27 June 2011

An anonymous human single copy genomic clone (D8S5) (TL11) on chromosome 8 identifies a moderately frequent RFLP

scientific article

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

scientific article

Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload

scientific article

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK ⬇️

scientific article published on December 1, 1997

Analysis of the NRAMP1 gene implicated in iron transport: association with multiple sclerosis and age effects

scientific article published on 01 January 2001

Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease.

scientific article published in August 2005

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

scientific article published in June 2002

Analysis of viral and genetic factors in South African patients with multiple sclerosis.

scientific article published on 22 July 2006

Apolipoprotein E genotyping and questionnaire-based assessment of lifestyle risk factors in dyslipidemic patients with a family history of Alzheimer's disease: test development for clinical application.

scientific article published on 20 October 2015

Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa

scientific article

Association of functional polymorphisms of SLC11A1 with risk of esophageal cancer in the South African Colored population

scientific article published in May 2005

Baseline bone health status in multi-ethnic South African postmenopausal breast cancer patients at initiation of aromatase inhibitor therapy: A descriptive study

scientific article published on 02 April 2019

CYP19A1 rs10046 pharmacogenetics in postmenopausal breast cancer patients treated with aromatase inhibitors: One-year follow-up

scientific article published on 08 September 2020

CYP2D6 genotyping and use of antidepressants in breast cancer patients: test development for clinical application

scientific article

Clinical Overestimation of HER2 Positivity in Early Estrogen and Progesterone Receptor-Positive Breast Cancer and the Value of Molecular Subtyping Using BluePrint

scientific article published on 16 November 2016

Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease.

scientific article published in January 2015

Composite prognostic models across the non-alcoholic fatty liver disease spectrum: Clinical application in developing countries

scientific article

Concentrations of the atherogenic Lp(a) are elevated in FH

scientific article published on 01 January 1998

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

scientific article published on June 1, 1997

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia

scientific article published on July 1, 1992

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

scientific article published on May 1, 1992

Detection of the PvuII RFLP in intron 15 of the LDL receptor gene by long-distance PCR

scientific article published on 01 May 1996

Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis

scientific article published on 01 December 1994

Effect of rapamycin on hepatic osteodystrophy in rats with portasystemic shunting.

scientific article published on July 2006

Efficacy of vitamin E compared with either simvastatin or atorvastatin in preventing the progression of atherosclerosis in homozygous familial hypercholesterolemia

scientific article published on 01 December 1999

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

scientific article published in October 1996

Exome Sequencing in a Family with Luminal-Type Breast Cancer Underpinned by Variation in the Methylation Pathway.

scientific article published on 22 February 2017

Exome sequencing combined with semantic discovery identifies strong disease-associated candidates in a single case of relapsing remitting multiple sclerosis

Expression of the SLC11A1 (NRAMP1) 5'-(GT)n repeat: opposite effect in the presence of -237C-->T.

scientific article published on July 2004

FH Afrikaner-3 LDL receptor mutation results in defective LDL receptors and causes a mild form of familial hypercholesterolemia

scientific article published on 01 June 1995

Familial adenomatous polyposis in two Black South African families.

scientific article published in March 2002

Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa

scientific article published on 01 September 2019

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

scientific article published on July 1, 1998

Fat mass and obesity-associated (FTO) gene polymorphisms are associated with physical activity, food intake, eating behaviors, psychological health, and modeled change in body mass index in overweight/obese Caucasian adults

scientific article

Fractional anisotropy of white matter, disability and blood iron parameters in multiple sclerosis.

scientific article published on 2 February 2018

Frequent RFLP recognised by an anonymous sequence localised to 11q13 - q14 [D11S.3.7.(E79)].

scientific article published on March 1987

Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload

scientific article published on 01 December 2005

Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload

Gene symbol: DCYTB/CYBRD1. Disease: primary iron overload

Gene symbol: PKD1 Disease: Polycystic kidney disease ⬇️

scientific article published on January 1, 1998

Gene symbol: SLC40A1. Disease: Primary iron overload

scientific article published on 01 May 2005

Gene symbol: SLC40A1. Disease: primary iron overload

scientific article published in December 2005

Genetic origins of lactase persistence and the spread of pastoralism in Africa

scientific article (publication date: 3 April 2014)

Genomic medicine and risk prediction across the disease spectrum

scientific article

Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria

scientific article

High prevalence of the Cys282Tyr HFE mutation facilitates an improved diagnostic service for hereditary haemochromatosis in South Africa

scientific article published on 01 March 1999

High specificity makes DNA screening the method of choice for diagnosis of familial hypercholesterolaemia

scientific article published on 01 December 2001

Human whole genome sequencing in South Africa

scientific article published on 12 January 2021

Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing

scientific article published on 23 March 2019

Identification of gene mutations allows for the molecular diagnosis of familial hypercholesterolemia

scientific article published on 01 August 1989

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

article

Impact of MammaPrint on Clinical Decision-Making in South African Patients with Early-Stage Breast Cancer.

scientific article

Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA.

scientific article published in December 1994

Incorporating microarray assessment of HER2 status in clinical practice supports individualised therapy in early-stage breast cancer.

scientific article

Influence of genetic factors on the development of breast cancer in the older woman.

scientific article published on July 2012

Inherited colon cancers

scientific article published on 01 July 2000

Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia

scientific article published on 01 June 2000

Iron and the folate-vitamin B12-methylation pathway in multiple sclerosis.

scientific article published on 26 May 2006

Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis

scientific article published on 19 July 2006

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

scientific article published on 01 April 2000

MammaPrint Pre-screen Algorithm (MPA) reduces chemotherapy in patients with early-stage breast cancer.

scientific article published on 3 July 2013

Medped FH: a paradigm for other common monogenic diseases in South Africa

scientific article published on 01 June 1999

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

scientific article

Molecular diagnosis of hereditary haemochromatosis--identify an affected person and save a family

scientific article published on 01 March 1999

Multiple APC mutations in sporadic flat colorectal adenomas

scientific article published on 01 December 1999

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

scientific article published on 01 September 1999

Multiple sclerosis-like diagnosis as a complication of previously treated malaria in an iron and vitamin D deficient Nigerian patient.

scientific article published on 8 January 2016

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

scientific article published on 01 October 1999

Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia.

scientific article published on October 2000

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

scientific article

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

scientific article published on 01 October 1996

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

scientific article published on 01 August 1997

Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia

scientific article published on 01 October 1995

Non-alcoholic fatty liver disease (NAFLD) in the Western Cape: a descriptive analysis.

scientific article published on 8 March 2010

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations ⬇️

scientific article published on June 1, 1995

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

scientific article

Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay.

scientific article published in January 2001

Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family

scientific article published on 01 December 1997

Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.

scientific article published in January 2005

Pathogenic Mechanisms Underlying Iron Deficiency and Iron Overload: New Insights for Clinical Application

scientific article published on 25 August 2009

Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer's disease.

scientific article

Pathology-supported genetic testing directed at shared disease pathways for optimized health in later life.

scientific article published in July 2013

Pharmacogenetics of aromatase inhibitors in endocrine responsive breast cancer: lessons learnt from tamoxifen and CYP2D6 genotyping.

scientific article published on 12 April 2017

Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics.

scientific article

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations

scientific article published on 01 October 1993

Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing

scientific article published on 06 March 2020

Postmenopausal Breast Cancer, Aromatase Inhibitors, and Bone Health: What the Surgeon Should Know.

scientific article published on 17 May 2016

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

scientific article published in July 2000

Reclassification of early stage breast cancer into treatment groups by combining the use of immunohistochemistry and microarray analysis

scholarly article

Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners

scientific article published on 01 January 1994

Response to treatment with simvastatin in a compound FH heterozygote

scientific article published on 01 March 1992

Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene.

scientific article

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.

scientific article

Significance of dietary folate intake, homocysteine levels and MTHFR 677 C>T genotyping in South African patients diagnosed with depression: test development for clinical application

scientific article published on 18 February 2014

Significance of linkage disequilibrium between mutation C282Y and a MseI polymorphism in population screening and DNA diagnosis of hemochromatosis

scientific article published on 01 June 1999

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome

article

Simultaneous detection of multiple familial hypercholesterolemia mutations facilitates an improved diagnostic service in South african patients at high risk of cardiovascular disease

scientific article published in January 2003

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

scientific article

The -237C-->T promoter polymorphism of the SLC11A1 gene is associated with a protective effect in relation to inflammatory bowel disease in the South African population.

scientific article

The UMD-LDLR database: additions to the software and 490 new entries to the database.

scientific article

The composite interleukin-1 genotype in South Africa.

scientific article published in May 2009

The conundrum of iron in multiple sclerosis – time for an individualised approach ⬇️

scientific article published on March 17, 2012

The fat mass and obesity-associated FTO rs9939609 polymorphism is associated with elevated homocysteine levels in patients with multiple sclerosis screened for vascular risk factors

scientific article published on 18 February 2014

The genetic structure and history of Africans and African Americans

scientific article

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

scientific article

The relationship between measurement of in vivo brain glutamate and markers of iron metabolism: A proton magnetic resonance spectroscopy study in healthy adults

scientific article published on 29 October 2019

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

scientific article published in April 1995

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

scientific article published on 01 January 1998

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

scientific article

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