| 1 | DEL6QO, EYA4
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| De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation.
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| Dutrannoy V, Klopocki E, Wei R, Bommer C, Mundlos S, Graul-Neumann LM, Trimborn M.
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| Eur J Med Genet 52(6):450-3. Epub 2009 Jul 1.PMID: 19576303 2009
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| 2 | DFNA10, EYA4
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| Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.
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| Makishima T, Madeo AC, Brewer CC, Zalewski CK, Butman JA, Sachdev V, Arai AE, Holbrook BM, Rosing DR, Griffith AJ.
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| Am J Med Genet A 143(14):1592-8. 2007
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| 3 | DFNA10, EYA4
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| A novel splice site mutation in EYA4 causes DFNA10 hearing loss.
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| Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJ, Bahlo M, Dahl HH.
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| Am J Med Genet A 143(14):1599-604. 2007
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| 4 | EYA4, CMD1J
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| Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.
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| Schonberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE.
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| Nat Genet 37(4):418-22. Epub 2005 Feb 27. 2005
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| 5 | EYA1, EYA2, EYA3, EYA4
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| Cling film as a barrier against CJD in Goldmann-type applanation tonometry.
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| Davies LN, Bartlett HE, Dunne MC.
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| Ophthalmic Physiol Opt 24(1):27-34. 2004
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| 6 | EYA1, EYA2, EYA3, EYA4
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| Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.
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| Li X, Oghi KA, Zhang J, Krones A, Bush KT, Glass CK, Nigam SK, Aggarwal AK, Maas R, Rose DW, Rosenfeld MG.
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| Nature 426(6964):247-54. Erratum in: Nature. 2004 Jan 15;427(6971):265. 2003
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| 7 | EYA4, DFNA10
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| A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.
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| Pfister M, Toth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nurnberg P, Kupka S.
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| Mol Med 8(10):607-11. 2002
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| 8 | DFNA10, EYA4
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| Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.
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| Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ.
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| Hum Mol Genet 10(3):195-200. 2001
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| 9 | EYA4
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| EYA4, a novel vertebrate gene related to Drosophila eyes absent.
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| Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I.
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| Hum Mol Genet 8 : 11-23. 1999
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