(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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scholarly article

1 reference

Europe PubMed Central

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)

1 reference

Europe PubMed Central

29 July 2017

1 reference

based on heuristic

inferred from title

Mohammed A Aldahmesh

object named as

Mohammed A Aldahmesh

2

0 references

object named as

Shu Ye

16

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object named as

Cyrus Cooper

18

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George Davey Smith

object named as

George Davey Smith

19

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object named as

Diana M Eccles

21

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Emmanuel Spanakis

object named as

Emmanuel Spanakis

3

0 references

Deborah A. Lawlor

15

object named as

Deborah A Lawlor

1 reference

Europe PubMed Central

29 July 2017

20

object named as

Shah Ebrahim

1 reference

Europe PubMed Central

29 July 2017

Stephen E Humphries

17

object named as

Stephen E Humphries

1 reference

Europe PubMed Central

29 July 2017

author name string

Khalid K Alharbi

1

1 reference

Europe PubMed Central

29 July 2017

Lema Haddad

4

1 reference

Europe PubMed Central

29 July 2017

Roslyn A Whittall

5

1 reference

Europe PubMed Central

29 July 2017

Xiao-he Chen

6

1 reference

Europe PubMed Central

29 July 2017

Hamid Rassoulian

7

1 reference

Europe PubMed Central

29 July 2017

Matt J Smith

8

1 reference

Europe PubMed Central

29 July 2017

Julie Sillibourne

9

1 reference

Europe PubMed Central

29 July 2017

Nicola J Ball

10

1 reference

Europe PubMed Central

29 July 2017

Nikki J Graham

11

1 reference

Europe PubMed Central

29 July 2017

Patricia J Briggs

12

1 reference

Europe PubMed Central

29 July 2017

Iain A Simpson

13

1 reference

Europe PubMed Central

29 July 2017

David I W Phillips

14

1 reference

Europe PubMed Central

29 July 2017

Ian N M Day

22

1 reference

Europe PubMed Central

29 July 2017

publication date

1 July 2005

1 reference

Europe PubMed Central

29 July 2017

Genome Research

1 reference

Europe PubMed Central

29 July 2017

15

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Europe PubMed Central

29 July 2017

7

1 reference

Europe PubMed Central

29 July 2017

967-977

1 reference

Europe PubMed Central

29 July 2017

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

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

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

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

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

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 amino-acid mutational spectrum of human genetic disease

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

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

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

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

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

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

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

Epigenetic reprogramming in mammalian development

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

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

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

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

Sequence specificity in CpG mutation hotspots

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

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

5 July 2018

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

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

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

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

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

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

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

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

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

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

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

12 December 2020

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

12 December 2020

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

12 December 2020

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

12 December 2020

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

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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