(Q46876618)

English

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

scientific article published on 31 December 2005

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scholarly article

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing (English)

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

hypercholesterolemia

0 references

mutational analysis

1 reference

based on heuristic

inferred from title

Anthony S Wierzbicki

11

object named as

Anthony S Wierzbicki

1 reference

Europe PubMed Central

26 December 2017

author name string

Steve E Humphries

1

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Treena Cranston

2

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Marcus Allen

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Helen Middleton-Price

4

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Maryam C Fernandez

5

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Victoria Senior

6

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Emma Hawe

7

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Andrew Iversen

8

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Richard Wray

9

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Martin A Crook

10

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

publication date

31 December 2005

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

Journal of Molecular Medicine

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

84

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

203-214

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

https://scigraph.springernature.com/pub.10.1007/s00109-005-0019-z

0 references

A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolaemia: a pilot study of parents' and children's concerns.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The UMD-LDLR database: additions to the software and 490 new entries to the database.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Waist-hip ratio and low HDL predict the risk of coronary artery disease in Pakistanis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A robust strategy for screening and confirmation of familial defective apolipoprotein B-100

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

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/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypercholesterolemia in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proof of "disease causing" mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

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/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Census of clinics providing specialist lipid services in the United Kingdom

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of the ligand binding domain of the low density lipoprotein receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Psychosocial function during treatment for familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Hypercholesterolaemia Regression Study: a randomised trial of low-density-lipoprotein apheresis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/16389549

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00109-005-0019-Z

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/16389549

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