(Q33956413)

30 July 2017

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations (English)

1 reference

30 July 2017

0 references

2

1 reference

30 July 2017

Marta Futema

1

0 references

Nicholas Lench

Nicholas Lench

16

0 references

Fredrik Karpe

Fredrik Karpe

13

0 references

Stephen E Humphries

Steve E Humphries

21

0 references

Robert A. Hegele

12

Robert A Hegele

0 references

author name string

KaWah Li

3

1 reference

30 July 2017

Ros A Whittall

4

1 reference

30 July 2017

H Andrew W Neil

5

1 reference

30 July 2017

Mary Seed

6

1 reference

30 July 2017

Simon Broome Consortium

7

1 reference

30 July 2017

Stefano Bertolini

8

1 reference

30 July 2017

Sebastiano Calandra

9

1 reference

30 July 2017

Olivier S Descamps

10

1 reference

30 July 2017

Colin A Graham

11

1 reference

30 July 2017

Ronen Durst

14

1 reference

30 July 2017

Eran Leitersdorf

15

1 reference

30 July 2017

Devaki R Nair

17

1 reference

30 July 2017

Handrean Soran

18

1 reference

30 July 2017

Frank M Van Bockxmeer

19

1 reference

30 July 2017

UK10K Consortium

20

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 July 2014

1 reference

Journal of Medical Genetics

30 July 2017

1 reference

30 July 2017

51

1 reference

30 July 2017

8

1 reference

30 July 2017

537-544

1 reference

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Discovery and refinement of loci associated with lipid levels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Expanding roles for SREBP in metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Genomics and proteomics of vertebrate cholesterol ester lipase (LIPA) and cholesterol 25-hydroxylase (CH25H)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Genome-wide linkage scan of a pedigree with familial hypercholesterolemia suggests susceptibility loci on chromosomes 3q25-26 and 21q22.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

A map of human genome variation from population-scale sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Biological, clinical and population relevance of 95 loci for blood lipids

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Sterol-regulated transport of SREBPs from endoplasmic reticulum to Golgi: oxysterols block transport by binding to Insig

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Resonance Raman evidence for an Fe-O-Fe center in stearoyl-ACP desaturase. Primary sequence identity with other diiron-oxo proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

Health inequalities among British civil servants: the Whitehall II study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112429

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

Cholesterol and 25-hydroxycholesterol inhibit activation of SREBPs by different mechanisms, both involving SCAP and Insigs

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

Mutation screening in patients for familial hypercholesterolaemia (ADH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

Familial hypercholesterolaemia: summary of NICE guidance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102405

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24987033

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24987033

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2014-102405

1 reference

30 July 2017

1 reference

30 July 2017

1 reference