(Q74470876)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia (English)

1 reference

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11 November 2019

1 reference

1 reference

1 reference

J U Brorholt-Petersen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

H K Jensen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

J M Jensen

3

1 reference

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11 November 2019

J Refsgaard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

T Christiansen

5

1 reference

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11 November 2019

L B Hansen

6

1 reference

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11 November 2019

N Gregersen

7

1 reference

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11 November 2019

O Faergeman

8

1 reference

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11 November 2019

publication date

1 June 2002

1 reference

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11 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

61

1 reference

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11 November 2019

issue

6

1 reference

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11 November 2019

page(s)

408-415

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Update on low density lipoprotein receptor mutations

11 November 2019

cites work

1 reference

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7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

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7 January 2021

Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

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7 January 2021

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

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7 January 2021

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

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7 January 2021

Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.

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7 January 2021

Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.

1 reference

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7 January 2021

Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study

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7 January 2021

Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects.

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7 January 2021

Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25–49 years) versus middle-aged (50–64 years) men

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7 January 2021

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

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7 January 2021

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

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7 January 2021

Low-density lipoprotein cholesterol bulk is the pivotal determinant of atherosclerosis in familial hypercholesterolemia

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7 January 2021

Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia

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7 January 2021

Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes

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7 January 2021

Predictive value of electron beam computed tomography of the coronary arteries. 19-month follow-up of 1173 asymptomatic subjects

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7 January 2021

Absence of coronary calcification on double-helical CT scans: predictor of angiographically normal coronary arteries in elderly women?

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7 January 2021

Arterial Calcification and Not Lumen Stenosis Is Highly Correlated With Atherosclerotic Plaque Burden in Humans: A Histologic Study of 723 Coronary Artery Segments Using Nondecalcifying Methodology

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7 January 2021

Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia

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7 January 2021

Usefulness of electron beam tomography in adolescents and young adults with heterozygous familial hypercholesterolemia

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7 January 2021

Measurement of coronary artery calcium with dual-slice helical CT compared with coronary angiography: evaluation of CT scoring methods, interobserver variations, and reproducibility.

1 reference

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7 January 2021

Calcification of coronary arteries: detection and quantification with double-helix CT

1 reference

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7 January 2021

Reproducibility of noninvasive ultrasonic measurement of carotid atherosclerosis. The Asymptomatic Carotid Artery Plaque Study

1 reference

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7 January 2021

Ultrasonic-pathological comparison of the human arterial wall. Verification of intima-media thickness.

1 reference

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7 January 2021

Methodological considerations of ultrasound investigation of intima-media thickness and lumen diameter

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7 January 2021

Ultrasonographically assessed carotid morphology and the risk of coronary heart disease

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7 January 2021

Pravastatin, Lipids, and Atherosclerosis in the Carotid Arteries (PLAC-II)

1 reference

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7 January 2021

Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima-media thickness in the common carotid artery

1 reference

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7 January 2021

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark

1 reference

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7 January 2021

LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy

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7 January 2021

Risk factors for carotid and femoral atherosclerosis in hypercholesterolaemic men

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7 January 2021

Abdominal obesity is associated with accelerated progression of carotid atherosclerosis in men.

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7 January 2021

Do conventional risk factors predict subclinical coronary artery disease? Results from the Prospective Army Coronary Calcium Project

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7 January 2021

Quantification of coronary artery calcification in patients with FH using EBCT.

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7 January 2021

The apolipoprotein epsilon4 allele determines prognosis and the effect on prognosis of simvastatin in survivors of myocardial infarction : a substudy of the Scandinavian simvastatin survival study

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7 January 2021

Relation of lipoprotein(a) to coronary heart disease and duplexsonographic findings of the carotid arteries in heterozygous familial hypercholesterolemia

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7 January 2021

Lipoprotein(a) and asymptomatic carotid artery disease. Evidence of a prominent role in the evolution of advanced carotid plaques: the Bruneck Study

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7 January 2021

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

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7 January 2021

Regression of coronary artery disease as a result of intensive lipid-lowering therapy in men with high levels of apolipoprotein B

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7 January 2021

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

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7 January 2021

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study

1 reference

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7 January 2021

10.1034/J.1399-0004.2002.610603.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12121347%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference