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Items: 1 to 20 of 150

1.

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.

Bae JW, Kim DB, Choi JY, Park HJ, Lee JD, Hur DG, Bae SH, Jung DJ, Lee SH, Kim UK, Lee KY.

PLoS One. 2012;7(8):e42463. doi: 10.1371/journal.pone.0042463. Epub 2012 Aug 6.

2.

Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.

Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX.

Pharmacogenet Genomics. 2008 Dec;18(12):1059-70. doi: 10.1097/FPC.0b013e3283131661.

3.

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.

Am J Med Genet A. 2008 May 15;146A(10):1248-58. doi: 10.1002/ajmg.a.32285.

PMID:
18386806
4.

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX.

Gene. 2007 May 15;393(1-2):11-9. Epub 2007 Jan 24.

PMID:
17341440
5.

Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.

Wei Q, Xu D, Chen Z, Li H, Lu Y, Liu C, Bu X, Xing G, Cao X.

Int J Audiol. 2013 Feb;52(2):98-103. doi: 10.3109/14992027.2012.743046. Epub 2012 Dec 13.

PMID:
23237192
6.

[Characterization of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss both carrying a mitochondrial 12S rRNA 1494C>T mutation].

Gong SS, Chen BB, Peng GH, Zheng J, Zhang T, Zheng BJ, Fang F, Zhang CQ, Lv JX, Guan MX.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):382-7. doi: 10.3760/cma.j.issn.1003-9406.2012.04.002. Chinese.

PMID:
22875491
7.

A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss.

Bai Y, Wang Z, Dai W, Li Q, Chen G, Cong N, Guan M, Li H.

BMC Med Genet. 2010 Sep 7;11:129. doi: 10.1186/1471-2350-11-129.

8.
9.

Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.

Young WY, Zhao L, Qian Y, Wang Q, Li N, Greinwald JH Jr, Guan MX.

Biochem Biophys Res Commun. 2005 Mar 25;328(4):1244-51.

PMID:
15708009
10.

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.

Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX.

Mitochondrion. 2010 Jan;10(1):69-81. doi: 10.1016/j.mito.2009.09.007. Epub 2009 Oct 8.

11.

Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.

Ding Y, Li Y, You J, Yang L, Chen B, Lu J, Guan MX.

J Genet Genomics. 2009 Apr;36(4):241-50. doi: 10.1016/S1673-8527(08)60111-3.

PMID:
19376484
12.

[Mitochondrial 12S rRNA A1555G mutation associated with nonsyndromic hearing loss in twenty-five Han Chinese pedigrees].

Peng GH, Zheng BJ, Fang F, Wu Y, Liang LZ, Zheng J, Nan BY, Yu X, Tang XW, Zhu Y, Lu JX, Chen BB, Guan MX.

Yi Chuan. 2013 Jan;35(1):62-72. Chinese.

PMID:
23357266
13.

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.

Zhu Y, Huang S, Kang D, Han M, Wang G, Yuan Y, Su Y, Yuan H, Zhai S, Dai P.

BMC Genet. 2014 Feb 17;15:26. doi: 10.1186/1471-2156-15-26.

14.

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees.

Chen H, Zheng J, Xue L, Meng Y, Wang Y, Zheng B, Fang F, Shi S, Qiu Q, Jiang P, Lu Z, Mo JQ, Lu J, Guan MX.

Eur J Hum Genet. 2012 Jun;20(6):607-12. doi: 10.1038/ejhg.2011.259. Epub 2012 Feb 8.

15.

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].

Yang AF, Zhu Y, Lu JX, Yang L, Zhao JY, Sun DM.

Yi Chuan. 2008 Jun;30(6):728-34. Chinese.

PMID:
18550495
16.

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.

Biochem Biophys Res Commun. 2007 Oct 26;362(3):670-6. Epub 2007 Aug 15.

17.

Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss.

Subathra M, Selvakumari M, Ramesh A, Ramakrishnan R, Karan KR, Kaur M, Manikandan M, Srikumari Srisailapathy CR.

Ann Hum Genet. 2014 May;78(3):217-34. doi: 10.1111/ahg.12061. Epub 2014 Mar 24.

18.

Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.

Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX.

Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. Epub 2007 Aug 8.

PMID:
17698030
19.
20.

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.

Biochem Biophys Res Commun. 2006 Feb 3;340(1):194-9.

PMID:
16375862

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