Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction (Q36474966)

14 August 2017

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction (English)

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14 August 2017

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myocardial infarction

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familial hypercholesterolemia

inferred from title

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10

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14 August 2017

12

Heribert Schunkert

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Jeanette Erdmann

11

object named as

Jeanette Erdmann

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Benedikt Reiz

object named as

Benedikt Reiz

3

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Christian Hengstenberg

9

object named as

Christian Hengstenberg

1 reference

14 August 2017

Ingrid Brænne

1

1 reference

14 August 2017

Mariana Kleinecke

2

1 reference

14 August 2017

Elisabeth Graf

4

1 reference

14 August 2017

Tim Strom

5

1 reference

14 August 2017

Thomas Wieland

6

1 reference

14 August 2017

Marcus Fischer

7

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14 August 2017

Thorsten Kessler

8

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14 August 2017

3 June 2015

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European Journal of Human Genetics

14 August 2017

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14 August 2017

24

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14 August 2017

191-197

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14 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/ejhg.2015.100

14 August 2017

0 references

cites work

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries

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Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

30 September 2017

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What is new in familial hypercholesterolemia?

30 September 2017

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PCSK9 gene mutations and low-density lipoprotein cholesterol

30 September 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

30 September 2017

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The UCSC Genome Browser database: 2014 update

30 September 2017

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Familial hypercholesterolaemia: a pressing issue for European health care

30 September 2017

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Familial hypercholesterolemia: an under-recognized but significant concern in cardiology practice

30 September 2017

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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

30 September 2017

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

30 September 2017

1 reference

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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

30 September 2017

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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

30 September 2017

1 reference

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A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

30 September 2017

1 reference

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Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

30 September 2017

1 reference

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

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A method and server for predicting damaging missense mutations

30 September 2017

1 reference

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New susceptibility locus for coronary artery disease on chromosome 3q22.3.

30 September 2017

1 reference

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Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

30 September 2017

1 reference

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Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

30 September 2017

1 reference

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Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

30 September 2017

1 reference

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Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

30 September 2017

1 reference

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Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program

30 September 2017

1 reference

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A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Predicting deleterious amino acid substitutions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

28 June 2018

1 reference

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Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication.

21 September 2018

1 reference

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Accelerated subclinical coronary atherosclerosis in patients with familial hypercholesterolemia.

21 September 2018

1 reference

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Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Controversies in familial hypercholesterolaemia: recommendations of the NICE Guideline Development Group for the identification and management of familial hypercholesterolaemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Arterial intima-media thickness in children heterozygous for familial hypercholesterolaemia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

A comprehensive linkage analysis for myocardial infarction and its related risk factors

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4717192

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

21 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.100

Distinct Heritable Patterns of Angiographic Coronary Artery Disease in Families With Myocardial Infarction

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.100

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

21 January 2018

1 reference

12 December 2020

Comparative dose efficacy study of atorvastatin versus simvastatin, pravastatin, lovastatin, and fluvastatin in patients with hypercholesterolemia (the CURVES study)

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

Guía de la ESC/EAS sobre el manejo de las dislipemias

1 reference

12 December 2020

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia

1 reference

12 December 2020

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia

1 reference

12 December 2020

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

1 reference

12 December 2020

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene

1 reference

12 December 2020

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene

1 reference

12 December 2020

Three novel mutations in the EGF precursor homology domain of the low-density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia

1 reference

12 December 2020

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2015.100

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference