Search Results - "LEREN, PAUL"
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Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Published in European heart journal (07-03-2018)“…Abstract Aims Lamin A/C (LMNA) mutations cause familial dilated cardiomyopathy (DCM) with frequent conduction blocks and arrhythmias. We explored the…”
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2
Urban Air Pollution and Mortality in a Cohort of Norwegian Men
Published in Environmental health perspectives (01-04-2004)“…We investigated the association between total and cause-specific mortality and individual measures of long-term air pollution exposure in a cohort of Norwegian…”
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3
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
Published in BMC nephrology (26-04-2017)“…Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl…”
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4
Hypokalaemic Paralysis - A double trouble from concurrent Thyrotoxicosis and Gitelman syndrome: A report of two cases
Published in Sri Lanka journal of diabetes endocrinology and metabolism (01-06-2020)“…Background Hypokalaemic paralysis is a rare group of disorders with concomitant muscle weakness and hypokalaemia. Thyrotoxicosis is a recognized and a common…”
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5
Mortality in relation to smoking history: 13 years' follow-up of 68,000 Norwegian men and women 35-49 years
Published in Journal of clinical epidemiology (01-05-1993)“…A total of 44,290 men and 24,535 women aged 35-49 have been followed with respect to different causes of death during 13.3 years on average. A detailed history…”
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Pregnancy Outcomes in Familial Hypercholesterolemia: A Registry-Based Study
Published in Circulation (New York, N.Y.) (11-10-2011)“…Women with familial hypercholesterolemia (FH) are prone to early cardiovascular disease and death. It is unknown whether FH adversely affects pregnant women…”
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7
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
Published in Clinical genetics (01-11-2024)“…The aim of this study was to explore the prevalence of likely pathogenic or pathogenic variants and assess the diagnostic yield from genetic testing for…”
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8
Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
Published in Heart (British Cardiac Society) (01-10-2018)“…The primary objective was to study the risk of acute myocardial infarction (AMI) and coronary heart disease (CHD) in patients with familial…”
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9
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
Published in PloS one (01-12-2023)“…Background Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters in plasma from high density lipoprotein (HDL) to very low density lipoprotein…”
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10
Risk of stroke in genetically verified familial hypercholesterolemia: A prospective matched cohort study
Published in Atherosclerosis (01-10-2022)“…Individuals with familial hypercholesterolemia (FH), causing severely elevated LDL-C, are expected to have a higher risk of ischemic stroke. The risk of…”
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11
Norsk student i tysk fangenskap
Published in Tidsskrift for den Norske Lægeforening (06-04-2006)Get full text
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12
Increased risk of peripheral artery disease in persons with familial hypercholesterolaemia: a prospective registry study
Published in European journal of preventive cardiology (09-02-2022)Get full text
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13
Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
Published in Human mutation (01-01-2013)“…ABSTRACT Apolipoprotein (apo) E mutants are associated with type III hyperlipoproteinemia characterized by high cholesterol and triglycerides levels. Autosomal…”
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14
Incidence of various types of atherosclerotic disease in patients with genotyped familial hypercholesterolemia
Published in Atherosclerosis (01-08-2017)Get full text
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15
Lower risk of smoking-related cancer in individuals with familial hypercholesterolemia compared with controls: a prospective matched cohort study
Published in Scientific reports (17-12-2019)“…According to guidelines, individuals with familial hypercholesterolemia (FH) shall receive lifestyle intervention and intensive lipid-lowering treatment from…”
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16
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
Published in Journal of clinical lipidology (01-11-2023)“…•Homozygosity for mutation Q384K in the APOB gene causes hypobetalipoproteinemia.•Mutation Q384K disrupts the structure of the large lipid transfer (LLT)…”
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Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia
Published in Stroke (1970) (2018)“…Background and Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density…”
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18
Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia
Published in Stroke (1970) (2018)“…Background and Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density…”
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19
The Prevalence of Mutations in KCNQ1, KCNH2, and SCN5A in an Unselected National Cohort of Young Sudden Unexplained Death Cases
Published in Journal of cardiovascular electrophysiology (01-10-2012)“…Introduction: Sudden unexplained death account for one‐third of all sudden natural deaths in the young (1–35 years). Hitherto, the prevalence of genopositive…”
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The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review
Published in Frontiers in genetics (06-12-2022)“…Familial hypercholesterolemia (FH) is a common, inherited disease characterized by high levels of low-density lipoprotein Cholesterol (LDL-C) from birth. Any…”
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