(Q40422003)

http://europepmc.org/abstract/PMC/5843366

29 June 2018

title

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm (English)

1 reference

http://europepmc.org/abstract/PMC/5843366

29 June 2018

main subject

supravalvular aortic stenosis

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Lilian Bomme Ousager

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Anne Marie Jelsig

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Vishwanathan Hucthagowder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Henrik Nissen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

16 November 2016

1 reference

http://europepmc.org/abstract/PMC/5843366

29 June 2018

published in

European Journal of Medical Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

110-113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Supravalvular aortic stenosis: elastin arteriopathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Association of polymorphisms and haplotypes in the elastin gene in Dutch patients with sporadic aneurysmal subarachnoid hemorrhage.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Genomewide-linkage and haplotype-association studies map intracranial aneurysm to chromosome 7q11

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Elastin: mutational spectrum in supravalvular aortic stenosis.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5843366

Examination of ELN as a Candidate Gene in the Utah Intracranial Aneurysm Pedigrees

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27866049

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Confirmation of chromosome 7q11 locus for predisposition to intracranial aneurysm

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27866049

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

FAMILIAL SUPRAVALVULAR AORTIC STENOSIS

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27866049

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.EJMG.2016.11.004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27866049%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

PubMed publication ID

27866049

1 reference