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Journal Abstract Search

150 related items for PubMed ID: 10371545

  • 1. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
    Sue CM, Tanji K, Hadjigeorgiou G, Andreu AL, Nishino I, Krishna S, Bruno C, Hirano M, Shanske S, Bonilla E, Fischel-Ghodsian N, DiMauro S, Friedman R.
    Neurology; 1999 Jun 10; 52(9):1905-8. PubMed ID: 10371545
    [Abstract] [Full Text] [Related]

  • 2. Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.
    Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX.
    Nucleic Acids Res; 2004 Jun 10; 32(3):867-77. PubMed ID: 14960712
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  • 3. Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
    Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang X, Tang X, Chen Y, Mo JQ, Sondheimer N, Ge W, Guan MX.
    J Biol Chem; 2019 Dec 13; 294(50):19292-19305. PubMed ID: 31685661
    [Abstract] [Full Text] [Related]

  • 4. Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
    Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX.
    Mol Genet Metab; 2010 May 13; 100(1):57-64. PubMed ID: 20153673
    [Abstract] [Full Text] [Related]

  • 5. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
    Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A.
    Neuromuscul Disord; 2007 Oct 13; 17(9-10):681-3. PubMed ID: 17614276
    [Abstract] [Full Text] [Related]

  • 6. 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 13; 46():370-379. PubMed ID: 30336267
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  • 7. Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness.
    Zhang HJ, Xu CH, Zhan YJ, Zhao SY, Shan YF, Geng XX, Shan XN.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 13; 22(4):368-71. PubMed ID: 16086269
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  • 9. 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 13; 37(9):692-4. PubMed ID: 10978361
    [Abstract] [Full Text] [Related]

  • 10. 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 13; 189(2):489-496. PubMed ID: 31776834
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  • 13. [Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].
    Shu AL, Ji BH, Qin W, Feng GY, Nie YZ, Liu T, He L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun 13; 23(3):303-5. PubMed ID: 16767669
    [Abstract] [Full Text] [Related]

  • 14. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.
    Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M.
    Hum Mol Genet; 1995 Aug 13; 4(8):1421-7. PubMed ID: 7581383
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  • 15. [Pedigree analysis and sequence analysis of mtDNA 12srRNA, tRNA(Leu(UUR)), tRNA(Ser(UCN)) gene in nonsyndromic inherited deafness pedigrees].
    Li W, Han D, Yuan H, Cao J.
    Lin Chuang Er Bi Yan Hou Ke Za Zhi; 2004 Oct 13; 18(10):582-5, 589. PubMed ID: 15620132
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  • 16. Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
    del Castillo FJ, Villamar M, Moreno-Pelayo MA, Almela JJ, Morera C, Adiego I, Moreno F, del Castillo I.
    J Med Genet; 2002 Dec 13; 39(12):e82. PubMed ID: 12471220
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  • 18. [Sequence analysis of mtDNA 12S rRNA, tRNA(Leu(UUR)),tRNA(Ser(UCN))and 16S rRNA gene of 12 nonsyndromic inherited deafness pedigrees].
    Li W, Han D, Yuan H, Wang Y, Cao J, Yang W, Jiang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Dec 13; 18(6):415-20. PubMed ID: 11774206
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  • 19. 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 Dec 13; 104(1-2):153-9. PubMed ID: 21621438
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  • 20. Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
    Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C.
    Hum Mutat; 2012 Apr 13; 33(4):681-9. PubMed ID: 22241583
    [Abstract] [Full Text] [Related]

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