Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians (Q41089337)

26 September 2017

title

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348044

familial hypercholesterolemia

16 September 2022

main subject

hypercholesterolemia

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1 reference

1 reference

C. Bétard

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1348044

16 September 2022

A. M. Kessling

2

1 reference

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16 September 2022

M. Roy

3

1 reference

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16 September 2022

A. Chamberland

4

1 reference

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16 September 2022

S. Lussier-Cacan

5

1 reference

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16 September 2022

J. Davignon

6

1 reference

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16 September 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1348044

16 September 2022

publication date

1 March 1992

1 reference

26 September 2017

1 reference

26 September 2017

volume

88

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26 September 2017

issue

5

1 reference

26 September 2017

page(s)

529-536

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00219339

26 September 2017

exact match

0 references

cites work

Screening for hyperlipoproteinemia in 10,000 Danish newborns. Follow-up studies in 522 children with elevated cord serum VLDL-LDL-cholesterol

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Genetics and health care: a paradigm shift

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Experiences with the Homozygous Cases of Familial Hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

A RFLP associated with the low-density lipoprotein receptor gene (LDLR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Human LDL receptor gene: two ApaLI RFLPs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Common low-density lipoprotein receptor mutations in the French Canadian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

A host of hypercholesterolaemic homozygotes in South Africa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF00219339

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus

21 January 2018

1 reference

12 December 2020

Standardization of immunoassays for the quantitation of plasma apo B protein

1 reference

12 December 2020

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

12 December 2020

Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

1 reference

12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

12 December 2020

Pvu II polymorphism of low density lipoprotein receptor gene and familial hypercholesterolemia. Study of Italians

1 reference

12 December 2020

The inheritance of hyperipoproteinaemia with xanthomatosis:A study of 132 kindreds

1 reference

12 December 2020

Apo E allele frequency in primary endogenous hypertriglyceridemia (type IV) with and without hyperapobetalipoproteinemia

1 reference

12 December 2020

Polymorphic DNA haplotypes at the LDL receptor locus

1 reference

12 December 2020

Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients

1 reference

12 December 2020

Haplotype associations of three DNA polymorphisms at the human low density lipoprotein receptor gene locus in familial hypercholesterolaemia

1 reference

12 December 2020

Defective LDL receptors that are common in a large population. Familial hypercholesterolaemia in South Africa.

1 reference

12 December 2020

Influences of common variants of apolipoprotein E on measures of lipid metabolism in a sample selected for health

1 reference

12 December 2020

A DNA polymorphism in the human low-density lipoprotein receptor gene

1 reference

12 December 2020

A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

1 reference

12 December 2020

Genetics of atherosclerosis

1 reference

12 December 2020

Patterns of association between genetic variability in apolipoprotein (apo) B, apo AI-CIII-AIV, and cholesterol ester transfer protein gene regions and quantitative variation in lipid and lipoprotein traits: influence of gender and exogenous hormones

1 reference

12 December 2020

Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus associated with serum cholesterol level

1 reference

12 December 2020

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

12 December 2020

Improved method for quantitation of B apoprotein in plasma lipoproteins by electroimmunoassay

1 reference

12 December 2020

Identification of a deletion in the LDL receptor gene. A Finnish type of mutation

1 reference

12 December 2020

Faster enzymatic procedure for serum triglycerides

1 reference

12 December 2020

Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions.

1 reference

12 December 2020

Enzymatic determination of total serum cholesterol

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00219339

1 reference

Dimensions Publication ID

26 September 2017

1024907792

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1 reference