Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
Min S et al.
Circulation. Genomic and Precision Medicine, 2020
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.
Tassabehji M et al.
Methods in Molecular Medicine, 2006
Elastin: mutational spectrum in supravalvular aortic stenosis.
Metcalfe K et al.
European Journal of Human Genetics : Ejhg, 2000
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
Urbán Z et al.
Human Genetics, 2000
Deficient coacervation of two forms of human tropoelastin associated with supravalvular aortic stenosis.
Wu WJ et al.
European Journal of Biochemistry, 1999
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Li DY et al.
Human Molecular Genetics, 1997
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.
Tassabehji M et al.
Human Molecular Genetics, 1997
[Supravalvular aortic stenosis. Autosomal dominant form of congenital cardiopathy].
Pierquin G et al.
Journal De Genetique Humaine, 1988
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