[图书][B] Genomics in Pathology: The Hype, Hope and Reality of Precision Medicine
M Kotze - 2017 - gknowmix.com
The pathogenesis of a disease refers to the biological mechanisms underlying an acute,
chronic or recurrent medical condition. The Greek words “pathos”(disease) and …
chronic or recurrent medical condition. The Greek words “pathos”(disease) and …
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes
DM Kusters, R Huijgen, JC Defesche… - Founder mutations in …, 2014 - Springer
Samenvatting Background In the Netherlands, a screening programme was set up in 1994
in order to identify all patients with familial hypercholesterolaemia (FH). After 15 years of …
in order to identify all patients with familial hypercholesterolaemia (FH). After 15 years of …
GENETIC DISORDERS IN MINORITY GROUPS IN SOUTH AFRICA
P Beighton - Genomics and Health in the Developing World, 2012 - books.google.com
The evolution of medical genetic services and research in South Africa has been influenced
by the presence or absence of specific genetic disorders in different population groups. This …
by the presence or absence of specific genetic disorders in different population groups. This …
[图书][B] Long-term effects of the cholesterol level and its drug treatment
L Hyttinen - 2011 - oulurepo.oulu.fi
Increased plasma cholesterol is a well-known risk factor for cardiovascular diseases in
middle and early old age. At older ages, this association seems to disappear. Very few …
middle and early old age. At older ages, this association seems to disappear. Very few …
[PDF][PDF] Large LDLR Rearrangements in Bulgarian Patients with Familial Hypercholesterolemia. Frequency and Two Novel Mutations
More than 1000 different mutations in the LDL receptor gene (LDLR) result in familial
hypercholesterolemia (FH). The present study adds to the landscape of molecular …
hypercholesterolemia (FH). The present study adds to the landscape of molecular …
Risk Factors Affecting the Phenotypic Expression of Heterozygous Familial Hypercholesterolemia in Pakistani Population
F Imtiaz, W Khan, AA Vahidy - Atlas Journal of Biology, 2010 - journals.atlas-publishing.org
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism
recognized by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C) …
recognized by high plasma concentrations of low-density lipoprotein cholesterol (LDL-C) …
Genetic aspects of pre-eclampsia: mutation screening of the low-density lipoprotein receptor, methylenetetrahydrofolate reductase, prothrombin and factor V candidate …
GS Gebhardt - 2001 - scholar.sun.ac.za
Pre-eclampsia is a condition unique to pregnancy and primarily affects the maternal and
placental vascular endothelium. It has significant morbidity and mortality consequences for …
placental vascular endothelium. It has significant morbidity and mortality consequences for …
[PDF][PDF] The genetics of familial hypercholesterolaemia in South Africa:-Multiple founder mutations underlie the high disease prevalenceiil a diverse population
R Thiart, MJ Kotze - COMPARATIVE ANALYSIS OF FAMILIAL …, 1999 - scholar.sun.ac.za
Familial hypercholesterolaemhl (FH) has been a focus of research in South Africa since
1980, when this lipid disorder was recognised as a common cause of premature coronary …
1980, when this lipid disorder was recognised as a common cause of premature coronary …
Comparative analysis of familial hypercholestrerolaemia in different populations
R Thiart - 1999 - scholar.sun.ac.za
Abstract ENGLISH SUMMARY: Familial hypercholesterolaemia (FH) and familial defective
apolipoprotein B-IOO (FDB) are relatively common disorders of lipid and lipoprotein …
apolipoprotein B-IOO (FDB) are relatively common disorders of lipid and lipoprotein …
The MED-PED project: presymptomatic diagnosis in families with disease-related LDL receptor gene mutations
JV Vergotine - 2000 - scholar.sun.ac.za
Familial hypercholesterolaemia (FH) contributes significantly to the high death rate from
cardiovascular disease worldwide. FH is a common autosomal co-dominant disease …
cardiovascular disease worldwide. FH is a common autosomal co-dominant disease …