Filtros de búsqueda

Lista de obras de M J Kotze

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

artículo científico publicado el 1 de mayo de 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).

artículo científico publicado en 1987

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

artículo científico publicado el 1 de enero de 1995

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

artículo científico publicado el 1 de julio de 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

artículo científico publicado en 1996

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

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 1986

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

artículo científico publicado en 1990

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

artículo científico publicado en 2004

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 ⬇️

artículo científico publicado el 1 de diciembre de 1997

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

artículo científico publicado en 2001

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 1998

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

artículo científico publicado el 1 de junio de 1997

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado el 1 de mayo de 1992

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

artículo científico publicado en 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.

artículo científico publicado en 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.

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 2004

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

artículo científico publicado en 1995

Familial adenomatous polyposis in two Black South African families.

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de julio de 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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 1987

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

artículo científico publicado en 2005

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

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

Gene symbol: PKD1 Disease: Polycystic kidney disease ⬇️

artículo científico publicado el 1 de enero de 1998

Gene symbol: SLC40A1. Disease: Primary iron overload

artículo científico publicado en 2005

Gene symbol: SLC40A1. Disease: primary iron overload

artículo científico publicado en 2005

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

artículo científico publicado en 2014

Genomic medicine and risk prediction across the disease spectrum

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2001

Human whole genome sequencing in South Africa

artículo científico publicado en 2021

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 1994

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

artículo científico publicado en 2015

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

artículo científico

Inherited colon cancers

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2000

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

artículo científico publicado en 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.

artículo científico publicado en 1989

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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 1998

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

artículo científico publicado en 1996

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

artículo científico publicado en 1997

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

artículo científico publicado en 1995

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

artículo científico publicado en 2010

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

artículo científico publicado el 1 de junio de 1995

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

artículo científico publicado en 2001

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 1994

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 2019

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

artículo científico publicado el 1 de marzo de 1992

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

artículo científico publicado en 1995

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

artículo científico publicado en 1995

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 1999

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.

artículo científico publicado en 2005

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

artículo científico publicado en 2002

The composite interleukin-1 genotype in South Africa.

artículo científico publicado en 2009

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

artículo científico publicado el 17 de marzo de 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

artículo científico publicado en 2009

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

artículo científico publicado en 1989

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.

artículo científico publicado en 1995

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

artículo científico publicado en 1998

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

artículo científico publicado en 1996

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda