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Journal Abstract Search

135 related items for PubMed ID: 20722495

  • 1. Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
    Uehara DT, Rincon D, Abreu-Silva RS, Auricchio MT, Tabith A, Kok F, Mingroni-Netto RC.
    Genet Test Mol Biomarkers; 2010 Oct; 14(5):611-6. PubMed ID: 20722495
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  • 2. Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.
    Subathra M, Ramesh A, Selvakumari M, Karthikeyen NP, Srisailapathy CR.
    Ann Hum Genet; 2016 Sep; 80(5):257-73. PubMed ID: 27530448
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  • 3. Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
    Padma G, Ramchander PV, Nandur VU, Kumar KR, Padma T.
    Genet Test Mol Biomarkers; 2012 Sep; 16(9):1092-7. PubMed ID: 22852811
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  • 4. 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
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  • 13. Maternally inherited deafness associated with a T1095C mutation in the mDNA.
    Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM.
    Eur J Hum Genet; 2001 Feb 10; 9(2):147-9. PubMed ID: 11313749
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  • 14. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
    Verhoeven K, Ensink RJ, Tiranti V, Huygen PL, Johnson DF, Schatteman I, Van Laer L, Verstreken M, Van de Heyning P, Fischel-Ghodsian N, Zeviani M, Cremers CW, Willems PJ, Van Camp G.
    Eur J Hum Genet; 1999 Jan 10; 7(1):45-51. PubMed ID: 10094190
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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 10; 18(10):582-5, 589. PubMed ID: 15620132
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  • 16. A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
    Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F.
    Biochem Biophys Res Commun; 2015 Apr 10; 459(3):353-60. PubMed ID: 25701779
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