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Page 1
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Houseman MJ, et al. Among authors: osborn ah. J Med Genet. 2001 Jan;38(1):20-5. doi: 10.1136/jmg.38.1.20. J Med Genet. 2001. PMID: 11134236 Free PMC article.
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al. Denoyelle F, et al. Among authors: osborn ah. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442
Connexin26 deafness in several interconnected families.
Wilcox SA, Osborn AH, Allen-Powell DR, Maw MA, Dahl HH, Gardner RJ. Wilcox SA, et al. Among authors: osborn ah. J Med Genet. 1999 May;36(5):383-5. J Med Genet. 1999. PMID: 10353784 Free PMC article.
Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.
Dahl HH, Saunders K, Kelly TM, Osborn AH, Wilcox S, Cone-Wesson B, Wunderlich JL, Du Sart D, Kamarinos M, Gardner RJ, Dennehy S, Williamson R, Vallance N, Mutton P. Dahl HH, et al. Among authors: osborn ah. Med J Aust. 2001 Aug 20;175(4):191-4. doi: 10.5694/j.1326-5377.2001.tb143093.x. Med J Aust. 2001. PMID: 11587277
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. Wilcox SA, et al. Among authors: osborn ah. Hum Genet. 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. Hum Genet. 2000. PMID: 10830906
20 results