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DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY, Fang P, Ward PA, Schmitt E, Darilek S, Manolidis S, Oghalai JS, Roa BB, Alford RL. Tang HY, et al. Among authors: alford rl. Am J Med Genet A. 2006 Nov 15;140(22):2401-15. doi: 10.1002/ajmg.a.31525. Am J Med Genet A. 2006. PMID: 17041943 Free PMC article.
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
Brown CW, Levy ML, Flaitz CM, Reid BS, Manolidis S, Hebert AA, Bender MM, Heilstedt HA, Plunkett KS, Fang P, Roa BB, Chung P, Tang HY, Richard G, Alford RL. Brown CW, et al. Among authors: alford rl. J Invest Dermatol. 2003 Nov;121(5):1221-3. doi: 10.1046/j.1523-1747.2003.12550_4.x. J Invest Dermatol. 2003. PMID: 14708631 Free article. No abstract available.
Basic medical genetics for the otolaryngologist.
Alford RL, Darilek SA. Alford RL, et al. Adv Otorhinolaryngol. 2011;70:10-17. doi: 10.1159/000322465. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358179 Review.
Nonsyndromic hereditary hearing loss.
Alford RL. Alford RL. Adv Otorhinolaryngol. 2011;70:37-42. doi: 10.1159/000322867. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358183
32 results