(Q28716905)

2

0 references

Stephen E Humphries

object named as

Steve Eric Humphries

6

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author name string

Ros A Whittall

3

0 references

H Andrew W Neil

Journal of Medical Genetics

4

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language of work or name

English

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publication date

October 2012

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published in

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volume

49

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issue

10

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page(s)

644-9

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cites work

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

17 March 2017

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Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

17 March 2017

1 reference

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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

17 March 2017

1 reference

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Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene

17 March 2017

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

17 March 2017

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

17 March 2017

1 reference

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

17 March 2017

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Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia

17 March 2017

1 reference

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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

3 June 2018

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Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

3 June 2018

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Next-generation sequencing: ready for the clinics?

3 June 2018

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Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

3 June 2018

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Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis

3 June 2018

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

3 June 2018

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

3 June 2018

1 reference

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Identification of the low density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100.

3 June 2018

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Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

3 June 2018

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Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia

3 June 2018

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Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

3 June 2018

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Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

3 June 2018

1 reference

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Familial hypercholesterolaemia

3 June 2018

1 reference

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Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

27 November 2018

1 reference

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Mutation screening in patients for familial hypercholesterolaemia (ADH)

27 November 2018

1 reference

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Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.

27 November 2018

1 reference

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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of theLDLRgene in patients with familial hypercholesterolaemia

27 November 2018

1 reference

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Familial hypercholesterolaemia: summary of NICE guidance

27 November 2018

1 reference

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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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3475071

Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3475071

Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3475071

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

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23054246

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-101189

1 reference

1 reference

1 reference

PubMed publication ID

23054246

1 reference