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Journal Abstract Search

226 related items for PubMed ID: 20153673

  • 21. Mitochondrial tRNASer(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension.
    Yang P, Wu P, Liu X, Feng J, Zheng S, Wang Y, Fan Z.
    Ir J Med Sci; 2020 May; 189(2):489-496. PubMed ID: 31776834
    [Abstract] [Full Text] [Related]

  • 22. A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
    Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF.
    J Med Genet; 2000 Sep; 37(9):692-4. PubMed ID: 10978361
    [Abstract] [Full Text] [Related]

  • 23. Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.
    Chen DY, Zhu WD, Chai YC, Chen Y, Sun L, Yang T, Wu H.
    Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1654-7. PubMed ID: 26279247
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
    Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX.
    J Med Genet; 2011 Oct 07; 48(10):682-90. PubMed ID: 21931169
    [Abstract] [Full Text] [Related]

  • 26. Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations.
    Ding Y, Xia BH, Liu Q, Li MY, Huang SX, Zhuo GC.
    Gene; 2016 Oct 10; 591(1):148-152. PubMed ID: 27397648
    [Abstract] [Full Text] [Related]

  • 27. 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]

  • 28. The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.
    Y D, B-H X, Y-S T, G-C Z, J-H L.
    Balkan J Med Genet; 2017 Dec 15; 20(2):43-50. PubMed ID: 29876232
    [Abstract] [Full Text] [Related]

  • 29. Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.
    Cui Y, He DJ.
    Mol Med Rep; 2018 Dec 15; 18(6):5159-5165. PubMed ID: 30272361
    [Abstract] [Full Text] [Related]

  • 30. The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.
    Han D, Dai P, Zhu Q, Liu X, Huang D, Yuan Y, Yuan H, Wang X, Qian Y, Young WY, Guan MX.
    Biochem Biophys Res Commun; 2007 Jun 01; 357(2):554-60. PubMed ID: 17434445
    [Abstract] [Full Text] [Related]

  • 31. 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.
    Am J Med Genet A; 2005 Oct 01; 138A(2):133-40. PubMed ID: 16152638
    [Abstract] [Full Text] [Related]

  • 32. 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 Oct 01; 19(2):136-146. PubMed ID: 30854964
    [Abstract] [Full Text] [Related]

  • 33. Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.
    Liu Y, Li R, Li Z, Wang XJ, Yang L, Wang S, Guan MX.
    Hypertension; 2009 Jun 01; 53(6):1083-90. PubMed ID: 19398658
    [Abstract] [Full Text] [Related]

  • 34. 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 01; 52(2):98-103. PubMed ID: 23237192
    [Abstract] [Full Text] [Related]

  • 35. Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.
    Yamasoba T, Tsukuda K, Suzuki M.
    Acta Otolaryngol Suppl; 2007 Dec 01; (559):13-8. PubMed ID: 18340555
    [Abstract] [Full Text] [Related]

  • 36. Biochemical characterization of the deafness-associated mitochondrial tRNASer(UCN) A7445G mutation in osteosarcoma cell cybrids.
    Li X, Zhang LS, Fischel-Ghodsian N, Guan MX.
    Biochem Biophys Res Commun; 2005 Mar 11; 328(2):491-8. PubMed ID: 15694374
    [Abstract] [Full Text] [Related]

  • 37. A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function.
    Xue L, Chen Y, Tang X, Yao J, Huang H, Wang M, Ye S, Wang M, Guan MX.
    Mitochondrion; 2019 May 11; 46():370-379. PubMed ID: 30336267
    [Abstract] [Full Text] [Related]

  • 38. The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients.
    Rydzanicz M, Cywińska K, Wróbel M, Pollak A, Gawęcki W, Wojsyk-Banaszak I, Lechowicz U, Mueller-Malesińska M, Ołdak M, Płoski R, Skarżyński H, Szyfter K, Szyfter W.
    Mol Genet Metab; 2011 May 11; 104(1-2):153-9. PubMed ID: 21621438
    [Abstract] [Full Text] [Related]

  • 39. Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families.
    Liu XL, Zhou X, Zhou J, Zhao F, Zhang J, Li C, Ji Y, Zhang Y, Wei QP, Sun YH, Yang L, Lin B, Yuan Y, Li Y, Qu J, Guan MX.
    Ophthalmology; 2011 May 11; 118(5):978-85. PubMed ID: 21131053
    [Abstract] [Full Text] [Related]

  • 40. R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
    Jiang SJ, Di ZH, Huang D, Zhang JB, Zhang YY, Li SQ, He R.
    Int J Pediatr Otorhinolaryngol; 2014 Sep 11; 78(9):1461-6. PubMed ID: 24975403
    [Abstract] [Full Text] [Related]

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