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Year Number of Results
1993 1
1997 2
2002 1
2004 1
2005 2
2006 2
2007 3
2008 2
2009 3
2010 4
2011 2
2012 1
2013 1
2014 3
2015 1
2018 1
2024 0

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28 results

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Page 1
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.
Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. Yuan H, et al. Am J Med Genet A. 2005 Oct 1;138A(2):133-40. doi: 10.1002/ajmg.a.30952. Am J Med Genet A. 2005. PMID: 16152638 Free PMC article.
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX. Dai P, et al. Biochem Biophys Res Commun. 2006 Feb 3;340(1):194-9. doi: 10.1016/j.bbrc.2005.11.156. Biochem Biophys Res Commun. 2006. PMID: 16375862 Clinical Trial.
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F. Lévêque M, et al. Eur J Hum Genet. 2007 Nov;15(11):1145-55. doi: 10.1038/sj.ejhg.5201891. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637808
The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.
Liao Z, Zhao J, Zhu Y, Yang L, Yang A, Sun D, Zhao Z, Wang X, Tao Z, Tang X, Wang J, Guan M, Chen J, Li Z, Lu J, Guan MX. Liao Z, et al. Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. doi: 10.1016/j.bbrc.2007.08.034. Epub 2007 Aug 15. Biochem Biophys Res Commun. 2007. PMID: 17723226 Free PMC article.
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
Chen B, Sun D, Yang L, Zhang C, Yang A, Zhu Y, Zhao J, Chen Y, Guan M, Wang X, Li R, Tang X, Wang J, Tao Z, Lu J, Guan MX. Chen B, et al. Am J Med Genet A. 2008 May 15;146A(10):1248-58. doi: 10.1002/ajmg.a.32285. Am J Med Genet A. 2008. PMID: 18386806
28 results