(Q79908962)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

author name string

K Widhalm

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

A Dirisamer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

A Lindemayr

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

G Kostner

4

1 reference

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27 December 2019

publication date

8 March 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

27 December 2019

published in

1 reference

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27 December 2019

volume

30

1 reference

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27 December 2019

issue

2

1 reference

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27 December 2019

page(s)

239-247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17347910%20AND%20SRC:MED&resulttype=core&format=json

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

27 December 2019

cites work

1 reference

12 December 2020

Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation

1 reference

12 December 2020

Make early diagnosis, prevent early death from familial hypercholesterolaemia. The MED-PED FH program

1 reference

12 December 2020

Detection of single base substitutions in total genomic DNA

1 reference

12 December 2020

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

1 reference

12 December 2020

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

1 reference

12 December 2020

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

1 reference

12 December 2020

Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect

1 reference

12 December 2020

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study.

1 reference

12 December 2020

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling.

1 reference

12 December 2020

Neonatal diagnosis of familial type-II hyperlipoproteinaemia

1 reference

12 December 2020

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

1 reference

12 December 2020

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

12 December 2020

A randomized, open-label, comparative study of simvastatin plus diet versus diet alone on angiographic retardation of coronary atherosclerosis in adult Japanese patients: Japanese utilization of simvastatin therapy (JUST) study

1 reference

12 December 2020

Apolipoprotein E polymorphism and heterozygous familial hypercholesterolemia. Sex-specific effects

1 reference

12 December 2020

Apolipoprotein E polymorphism association with lipoprotein profile in endogenous hypertriglyceridemia and familial hypercholesterolemia

1 reference

12 December 2020

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes

1 reference

12 December 2020

Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a "founder effect".

1 reference

12 December 2020

Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function

1 reference

12 December 2020

Association of apolipoprotein B gene variants with plasma apoB and low density lipoprotein (LDL) cholesterol levels

1 reference

12 December 2020

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels

1 reference

12 December 2020

Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation

1 reference

12 December 2020

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

1 reference

12 December 2020

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

12 December 2020

Geographic distribution of French-Canadian low-density lipoprotein receptor gene mutations in the Province of Quebec.

1 reference

12 December 2020

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

1 reference

12 December 2020

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

1 reference

12 December 2020

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

12 December 2020

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group

1 reference

12 December 2020

Diagnosing familial hypercholesterolaemia: the relevance of genetic testing

1 reference

12 December 2020

Pedigree and sib-pair linkage analysis suggest the apolipoprotein B gene is not the major gene influencing plasma apolipoprotein B levels.

1 reference

12 December 2020

Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah

1 reference

12 December 2020

Rising cholesterol levels in children with familial hypercholesterolaemia.

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020