| 1 | ELN, SVAS
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| Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
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| Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB.
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| Eur J Med Genet 60(2):110-113. doi: 10.1016/j.ejmg.2016.11.004. Epub 2016 Nov 16.
2017
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| 2 | ELN, SVAS
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| Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.
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| Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G.
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| Eur J Hum Genet 18(3):317-23. Epub 2009 Oct 21.PMID: 19844261 2010
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| 3 | ELN1, SVAS, WBS
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| A novel 2.43 Mb deletion of 7q11.22-q11.23.
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| Blyth M, Beal S, Huang S, Crolla J, Foulds N.
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| Am J Med Genet A 146A(24):3206-3210. [Epub ahead of print]
2008
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| 4 | ELN, SVAS
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| Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.
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| Park S, Seo EJ, Yoo HW, Kim Y.
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| Int J Mol Med 18(2):329-32. 2006
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| 5 | ELN, SVAS
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| Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.
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| Urban Z, Michels VV, Thibodeau SN, Davis EC, Bonnefont JP, Munnich A, Eyskens B, Gewillig M, Devriendt K, Boyd CD.
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| Hum Genet 106(6):577-88. 2000
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| 6 | ELN, SVAS
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| Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts.
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| Urban Z, et al.
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| Hum Genet 104(2):135-42. 1999
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| 7 | ELN, SVAS
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| A new mutation in the elastin gene causing supravalvular aortic stenosis.
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| Boeckel T, et al.
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| Am J Cardiol 83(7):1141-3, A9-10. 1999
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| 8 | ELN, SVAS
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| Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.
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| Fryssira H, et al.
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| J Med Genet 34 : 306-308. 1997
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| 9 | ELN, SVAS
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| Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
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| Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT.
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| Hum Mol Genet 6(7):1021-8. 1997
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| 10 | SVAS, ELN
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| Hemizygosity at the elastin locus and clinical features of Williams syndrome. (abstr)
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| Morimoto Y, et al.
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| Am J Hum Genet 55 : A362. 1994
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