(Q33891865)

English

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

scientific article published in July 2005

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Europe PubMed Central

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29 July 2017

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 (English)

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Europe PubMed Central

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29 July 2017

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Mohammed A Aldahmesh

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Mohammed A Aldahmesh

2

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Shu Ye

16

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Cyrus Cooper

18

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George Davey Smith

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George Davey Smith

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Diana M Eccles

21

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Emmanuel Spanakis

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Emmanuel Spanakis

3

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Deborah A. Lawlor

15

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Deborah A Lawlor

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29 July 2017

20

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Shah Ebrahim

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29 July 2017

Stephen E Humphries

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Stephen E Humphries

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29 July 2017

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Khalid K Alharbi

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29 July 2017

Lema Haddad

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29 July 2017

Roslyn A Whittall

5

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29 July 2017

Xiao-he Chen

6

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29 July 2017

Hamid Rassoulian

7

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29 July 2017

Matt J Smith

8

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29 July 2017

Julie Sillibourne

9

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29 July 2017

Nicola J Ball

10

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29 July 2017

Nikki J Graham

11

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29 July 2017

Patricia J Briggs

12

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29 July 2017

Iain A Simpson

13

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29 July 2017

David I W Phillips

14

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29 July 2017

Ian N M Day

22

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29 July 2017

publication date

1 July 2005

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29 July 2017

Genome Research

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29 July 2017

15

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29 July 2017

7

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Europe PubMed Central

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29 July 2017

967-977

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

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Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses.

1 reference

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Clustering of risk factors and social class in childhood and adulthood in British women's heart and health study: cross sectional analysis

1 reference

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The amino-acid mutational spectrum of human genetic disease

1 reference

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5 July 2018

Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping

1 reference

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5 July 2018

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

1 reference

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5 July 2018

Neighboring-nucleotide effects on single nucleotide polymorphisms: a study of 2.6 million polymorphisms across the human genome

1 reference

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Epigenetic reprogramming in mammalian development

1 reference

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5 July 2018

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis

1 reference

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5 July 2018

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

1 reference

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5 July 2018

Sequence specificity in CpG mutation hotspots

1 reference

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5 July 2018

Electrophoresis for genotyping: microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

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Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

A receptor-mediated pathway for cholesterol homeostasis

1 reference

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5 July 2018

Use of a mutant cell line to study the kinetics and function of O-linked glycosylation of low density lipoprotein receptors

1 reference

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5 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

1 reference

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5 July 2018

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

Relation of fetal and infant growth to plasma fibrinogen and factor VII concentrations in adult life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

5 July 2018

Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing

1 reference

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29 October 2018

Independent effects of the -219 G>T and epsilon 2/ epsilon 3/ epsilon 4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study

1 reference

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29 October 2018

Methylated CpG dinucleotides are the preferential targets for G-to-T transversion mutations induced by benzo[a]pyrene diol epoxide in mammalian cells: similarities with the p53 mutation spectrum in smoking-associated lung cancers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

29 October 2018

I705 variant in the low denisty lipoprotein receptor gene has no effect on plasma cholesterol levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

29 October 2018

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

29 October 2018

Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1172041

29 October 2018

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

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/15998910

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/15998910

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/15998910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Denaturing gradient gel electrophoretic analysis of codons 3456-3553 of the apolipoprotein-B gene in 106 type 11a hyperlipoproteinaemic individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

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based on heuristic

inferred from PubMed ID database lookup

Mutation detection and mutation databases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

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based on heuristic

inferred from PubMed ID database lookup

Higher resolution microplate array diagonal gel electrophoresis: application to a multiallelic minisatellite

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

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based on heuristic

inferred from PubMed ID database lookup

Positive associations between single nucleotide polymorphisms in the IGF2 gene region and body mass index in adult males

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

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based on heuristic

inferred from PubMed ID database lookup

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15998910

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1101/GR.3313405

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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