(Q28363162)

English

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews

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scholarly article

1 reference

Europe PubMed Central

4 July 2017

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews (English)

1 reference

Europe PubMed Central

4 July 2017

pathogen spread

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hypercholesterolemia

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familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

author name string

Durst R

1

1 reference

Europe PubMed Central

4 July 2017

Colombo R

2

1 reference

Europe PubMed Central

4 July 2017

Shpitzen S

3

1 reference

Europe PubMed Central

4 July 2017

Avi LB

4

1 reference

Europe PubMed Central

4 July 2017

Friedlander Y

5

1 reference

Europe PubMed Central

4 July 2017

Wexler R

6

1 reference

Europe PubMed Central

4 July 2017

Raal FJ

7

1 reference

Europe PubMed Central

4 July 2017

Marais DA

8

1 reference

Europe PubMed Central

4 July 2017

Defesche JC

9

1 reference

Europe PubMed Central

4 July 2017

Mandelshtam MY

10

1 reference

Europe PubMed Central

4 July 2017

Kotze MJ

11

1 reference

Europe PubMed Central

4 July 2017

Leitersdorf E

12

1 reference

Europe PubMed Central

4 July 2017

Meiner V

13

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

17 April 2001

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

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Europe PubMed Central

4 July 2017

68

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Europe PubMed Central

4 July 2017

1172-1188

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Europe PubMed Central

4 July 2017

5

1 reference

Europe PubMed Central

4 July 2017

Mutations of Bacteria from Virus Sensitivity to Virus Resistance

1 reference

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Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion

1 reference

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20 March 2017

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

1 reference

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20 March 2017

The mutation rate in the human mtDNA control region

1 reference

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20 March 2017

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

1 reference

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Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

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20 March 2017

The LDL receptor gene: a mosaic of exons shared with different proteins

1 reference

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20 March 2017

Likelihood analysis of disequilibrium mapping, and related problems

1 reference

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20 March 2017

Evaluation of methods for the measurement of low-density lipoprotein cholesterol.

1 reference

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7 April 2017

APO E gene and gene-environment effects on plasma lipoprotein-lipid levels

1 reference

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29 September 2017

Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

New estimates of intergenerational time intervals for the calculation of age and origins of mutations

1 reference

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29 September 2017

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

Estimating the age of mutant disease alleles based on linkage disequilibrium

1 reference

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29 September 2017

Mutation of human short tandem repeats

1 reference

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29 September 2017

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia

1 reference

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29 September 2017

Likelihood methods for locating disease genes in nonequilibrium populations.

1 reference

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29 September 2017

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1 reference

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29 September 2017

Measuring the strength of associations between HLA antigens and diseases

1 reference

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29 September 2017

The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin

1 reference

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29 September 2017

Founder effect in Tay-Sachs disease unlikely

1 reference

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29 September 2017

The use of low density lipoprotein receptor activity of lymphocytes to determine the prevalence of familial hypercholesterolaemia in a rural South African community

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

29 September 2017

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Launching microsatellites: a review of mutation processes and methods of phylogenetic interference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Human genetics. Jewish lysosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?

1 reference

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2 June 2018

Linkage disequilibrium patterns vary with chromosomal location: a case study from the von Willebrand factor region.

1 reference

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2 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Prevalence of familial hypercholesterolemia in Johannesburg Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

2 June 2018

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

28 July 2018

Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

27 November 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

27 November 2018

Linkage disequilibrium and gene mapping: an empirical least-squares approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

27 November 2018

Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226098

27 November 2018

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

1 reference

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27 November 2018

ITD in Ashkenazi Jews--genetic drift or selection?

1 reference

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27 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolemia and apolipoprotein E4

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous familial hypercholesterolemia among French Canadians in Québec Province

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and geographical distribution of major LDL receptor gene rearrangements in Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of apolipoprotein E genotype on lipid levels and response to diet in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Influence of apo E polymorphism on the response to simvastatin treatment in patients with heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of Lithuanian mutation among St. Petersburg Jews with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diverse effect of ethnicity on plasma lipoprotein[a] levels in heterozygote patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11309683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

4 July 2017

release_lee3l4vaz5ekdimxdjsmrn2qtm

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1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

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