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Journal Abstract Search

176 related items for PubMed ID: 27866049

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  • 2. Novel ELN mutation in a Japanese family with a severe form of supravalvular aortic stenosis.
    Sugiyama K, Horigome H, Lin L, Murakami T, Shiono J, Yamashiro Y, Matsuura H, Yoda H, Yanagisawa H.
    Mol Genet Genomic Med; 2019 Nov; 7(11):e986. PubMed ID: 31560829
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  • 4. Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.
    Kiener A, Lantin MRL, Lawrence EJ, Morris SA, Sheth SS.
    Pediatr Cardiol; 2024 Jun; 45(5):1154-1156. PubMed ID: 38294523
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  • 9. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
    Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT.
    Hum Mol Genet; 1997 Jul; 6(7):1021-8. PubMed ID: 9215670
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  • 11. Elastin mutation screening in a group of patients affected by vascular abnormalities.
    Rodriguez-Revenga L, Badenas C, Carrió A, Milà M.
    Pediatr Cardiol; 2005 Jul; 26(6):827-31. PubMed ID: 15990952
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  • 12. Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.
    Markush D, Sanchez-Lara PA, Grand K, Wong R, Garg R.
    Pediatr Cardiol; 2023 Apr; 44(4):946-950. PubMed ID: 36790509
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  • 17. Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk.
    Parrish PCR, Liu D, Knutsen RH, Billington CJ, Mecham RP, Fu YP, Kozel BA.
    Hum Mol Genet; 2020 Jul 29; 29(12):2035-2050. PubMed ID: 32412588
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  • 19. Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.
    Zhang HY, Xiao M, Zhang Y.
    BMC Pediatr; 2023 Nov 18; 23(1):580. PubMed ID: 37980465
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  • 20. Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy.
    Min S, Kinnear C, D'Alessandro LCA, Bouwmeester J, Yao R, Chiasson D, Keeley F, Mital S.
    Circ Genom Precis Med; 2020 Dec 18; 13(6):e002971. PubMed ID: 32960096
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