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Journal Abstract Search

365 related items for PubMed ID: 18386806

  • 1. 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. PubMed ID: 18386806
    [Abstract] [Full Text] [Related]

  • 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 15; 18(12):1059-70. PubMed ID: 18820594
    [Abstract] [Full Text] [Related]

  • 3. Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss.
    Young WY, Zhao L, Qian Y, Li R, Chen J, Yuan H, Dai P, Zhai S, Han D, Guan MX.
    Am J Med Genet A; 2006 Oct 15; 140(20):2188-97. PubMed ID: 16955413
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 17341440
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 36(4):241-50. PubMed ID: 19376484
    [Abstract] [Full Text] [Related]

  • 6. [Mitochondrial tRNAThr G15927A mutation may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation.].
    Tang XW, Li ZY, Lu JX, Zhu Y, Li RH, Wang JD, Guan MX.
    Yi Chuan; 2008 Oct 15; 30(10):1287-94. PubMed ID: 18930888
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 10(1):69-81. PubMed ID: 19818876
    [Abstract] [Full Text] [Related]

  • 8. Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.
    Chen T, Liu Q, Jiang L, Liu C, Ou Q.
    Genet Test Mol Biomarkers; 2013 Feb 15; 17(2):122-30. PubMed ID: 23256547
    [Abstract] [Full Text] [Related]

  • 9. 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 Feb 15; 7(8):e42463. PubMed ID: 22879993
    [Abstract] [Full Text] [Related]

  • 10. 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. PubMed ID: 17698030
    [Abstract] [Full Text] [Related]

  • 11. [Mitochondrial tRNA(Thr)T15943C mutation may be a new position that affects the phenotypic expression of deafness associated 12s rRNA A1555G mutation].
    Xiao H, He Z, Gao Y, Yang Y, Zheng J, Cai Z, Zheng B, Tang X, Guan M.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Apr 12; 32(2):163-8. PubMed ID: 25863077
    [Abstract] [Full Text] [Related]

  • 12. Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
    Chen J, Yang L, Yang A, Zhu Y, Zhao J, Sun D, Tao Z, Tang X, Wang J, Wang X, Tsushima A, Lan J, Li W, Wu F, Yuan Q, Ji J, Feng J, Wu C, Liao Z, Li Z, Greinwald JH, Lu J, Guan MX.
    Gene; 2007 Oct 15; 401(1-2):4-11. PubMed ID: 17698299
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 11():129. PubMed ID: 20822538
    [Abstract] [Full Text] [Related]

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  • 15. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
    Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.
    Am J Hum Genet; 2006 Aug 07; 79(2):291-302. PubMed ID: 16826519
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 17723226
    [Abstract] [Full Text] [Related]

  • 17. [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 26; 29(4):382-7. PubMed ID: 22875491
    [Abstract] [Full Text] [Related]

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  • 19. The Mitochondrial tRNAHis G12192A Mutation May Modulate the Clinical Expression of Deafness-Associated tRNAThr G15927A Mutation in a Chinese Pedigree.
    Ding Y, Teng YS, Zhuo GC, Xia BH, Leng JH.
    Curr Mol Med; 2019 Aug 26; 19(2):136-146. PubMed ID: 30854964
    [Abstract] [Full Text] [Related]

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