| 1 | DFNA3, GJB2, GJB6
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| Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
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| Su CC, Li SY, Su MC, Chen WC, Yang JJ.
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| Eur J Hum Genet 18(9):1061-4. Epub 2010 May 5. 2010
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| 2 | DFNA3, GJB2
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| A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
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| Matos TD, Caria H, Simões-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G.
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| Hear Res 240(1-2):87-92. Epub 2008 Apr 3.
2008
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| 3 | GJB2, DFNA3, KHM2
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| Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
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| Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.
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| Clin Genet 68(2):161-6. 2005
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| 4 | DFNA3,GJB2
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| Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.
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| Melchionda S, Bicego M, Marciano E, Franze A, Morgutti M, Bortone G, Zelante L, Carella M, D'Andrea P.
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| Biochem Biophys Res Commun 337(3):799-805. Epub 2005 Sep 28. 2005
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| 5 | DFNA3, DFNB1, GJB2, HID, KHM2, KID
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| Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
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| Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A.
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| Hum Mol Genet 12(8):805-12. 2003
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| 6 | DFNA3, DFNB1, GJB6
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| A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
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| del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F.
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| N Engl J Med 346(4):243-9. 2002
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| 7 | DFNA3, DFNB1, GJB2
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| Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
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| Oliveira C, Maciel-Guerra A, Sartorato E.
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| Clin Genet 61(5):354-358. 2002
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| 8 | DFNA3, GJB2
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| Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
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| Thonnissen E, Rabionet R, Arbones L, Estivill X, Willecke K, Ott T.
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| Hum Genet 111(2):190-7. 2002
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| 9 | DFNA3, GJB2
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| Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations - phenotypic spectrum and frequencies of GJB2 mutations in Austria.
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| Janecke AR, Hirst-Stadlmann A, Gunther B, Utermann B, Muller T, Loffler J, Utermann G, Nekahm-Heis D.
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| Hum Genet 111(2):145-53. 2002
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| 10 | DFNA3, GJB2
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| A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
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| Morle L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G.
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| J Med Genet 37(5):368-70. 2000
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| 11 | GJB2, DFNA3, DFNB1
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| Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
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| Green GE, et al.
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| JAMA 281(23):2211-6. 1999
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| 12 | GJB6, DFNA3
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| Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
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| Grifa A, et al.
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| Nat Genet 23(1):16-8. No abstract available 1999
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| 13 | DFNA3, DFNB1, GJB2, KHM2
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| Cx26 deafness: mutation analysis and clinical variability.
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| Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F.
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| J Med Genet 36(11):829-32 1999
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| 14 | DFNA3, DFNB1, GJB2
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| Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
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| Martin PE, L Coleman S, Casalotti SO, Forge A, Evans WH.
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| Hum Mol Genet 8(13):2369-76 1999
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| 15 | DFNA3, GJB2
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| Connexin 26 gene linked to a dominant deafness.
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| Denoyelle F, et al.
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| Nature 393 : 319-320. 1998
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| 16 | DFNA3, DFNB1, GJB2
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| Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
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| Kelsell DP, et al.
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| Nature 387 : 80-83. 1997
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| 17 | DFNA3,DFNB1,LGMD2C,TUBA3C
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| A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).
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| Guilford P, et al.
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| Genomics 29 : 163-169. 1995
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| 18 | DFNA3
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| A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.
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| Cha•b H, et al.
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| Hum Mol Genet 3 : 2219-2222. 1994
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