(Q34146090)

31 July 2017

A cholesterol-lowering gene maps to chromosome 13q. (English)

1 reference

31 July 2017

22

Luft FC

1 reference

31 July 2017

Knoblauch H

1

1 reference

31 July 2017

Müller-Myhsok B

2

1 reference

31 July 2017

Busjahn A

3

1 reference

31 July 2017

Ben Avi L

4

1 reference

31 July 2017

Bähring S

5

1 reference

31 July 2017

Baron H

6

1 reference

31 July 2017

Heath SC

7

1 reference

31 July 2017

Uhlmann R

8

1 reference

31 July 2017

Faulhaber HD

9

1 reference

31 July 2017

Shpitzen S

10

1 reference

31 July 2017

Aydin A

11

1 reference

31 July 2017

Reshef A

12

1 reference

31 July 2017

Rosenthal M

13

1 reference

31 July 2017

Eliav O

14

1 reference

31 July 2017

Mühl A

15

1 reference

31 July 2017

Lowe A

16

1 reference

31 July 2017

Schurr D

17

1 reference

31 July 2017

Harats D

18

1 reference

31 July 2017

Jeschke E

19

1 reference

31 July 2017

Friedlander Y

20

1 reference

31 July 2017

Schuster H

21

1 reference

31 July 2017

Leitersdorf E

23

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 January 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

66

1 reference

31 July 2017

157-166

1 reference

31 July 2017

1

1 reference

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Robustness and power of the maximum-likelihood-binomial and maximum-likelihood-score methods, in multipoint linkage analysis of affected-sibship data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Markov chain Monte Carlo segregation and linkage analysis for oligogenic models

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Cholesterol and coronary heart disease. The 21st century

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

An improved multipoint sib-pair analysis of quantitative traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Multivariate multipoint linkage analysis of quantitative trait loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Parametric and nonparametric linkage analysis: a unified multipoint approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Complete multipoint sib-pair analysis of qualitative and quantitative traits

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Strategies for multilocus linkage analysis in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

A receptor-mediated pathway for cholesterol homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Maximum-Likelihood-Binomial method for genetic model-free linkage analysis of quantitative traits in sibships.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Genetic regulation of cholesterol homeostasis: chromosomal organization of candidate genes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288321

Cardiovascular features of homozygous familial hypercholesterolemia: Analysis of 16 patients

28 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Heritability analysis of lipids and three gene loci in twins link the macrophage scavenger receptor to HDL cholesterol concentrations

1 reference

12 December 2020

Cholesterol reduction yields clinical benefit: impact of statin trials

1 reference

12 December 2020

QT interval is linked to 2 long-QT syndrome loci in normal subjects

1 reference

12 December 2020

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

1 reference

12 December 2020

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes

1 reference

12 December 2020

Identifiers

DOI

10.1086/302704

1 reference

31 July 2017

1 reference

31 July 2017

1 reference