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A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J, Han DY, Dai P, Sun HJ, Tao R, Sun Q, Yan D, Qin W, Wang HY, Ouyang XM, Yang SZ, Cao JY, Feng GY, Du LL, Zhang YZ, Zhai SQ, Yang WY, Liu XZ, He L, Yuan HJ. Cheng J, et al. Among authors: yan d. Clin Genet. 2007 Nov;72(5):471-7. doi: 10.1111/j.1399-0004.2007.00889.x. Epub 2007 Sep 14. Clin Genet. 2007. PMID: 17868390
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
Yuan HJ, Han DY, Sun Q, Yan D, Sun HJ, Tao R, Cheng J, Qin W, Angeli S, Ouyang XM, Yang SZ, Feng L, Cao JY, Feng GY, Wang YF, Dai P, Zhai SQ, Yang WY, He L, Liu XZ. Yuan HJ, et al. Among authors: yan d. Clin Genet. 2008 Apr;73(4):391-4. doi: 10.1111/j.1399-0004.2008.00972.x. Epub 2008 Feb 27. Clin Genet. 2008. PMID: 18312449 No abstract available.
Audiological and genetic features of the mtDNA mutations.
Liu XZ, Angeli S, Ouyang XM, Liu W, Ke XM, Liu YH, Liu SX, Du LL, Deng XW, Yuan H, Yan D. Liu XZ, et al. Among authors: yan d. Acta Otolaryngol. 2008 Jul;128(7):732-8. doi: 10.1080/00016480701719011. Acta Otolaryngol. 2008. PMID: 18568513 Free PMC article.
Ageing and hearing loss.
Liu XZ, Yan D. Liu XZ, et al. Among authors: yan d. J Pathol. 2007 Jan;211(2):188-97. doi: 10.1002/path.2102. J Pathol. 2007. PMID: 17200945 Review.
4,949 results