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Journal Abstract Search

284 related items for PubMed ID: 24507663

  • 1. Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.
    Chai Y, Sun L, Pang X, Wang X, Chen D, Chen Y, Wu H, Yang T.
    Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):614-7. PubMed ID: 24507663
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  • 2. Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
    Li Q, Ji Y, Han B, Zong L, Lan L, Zhao Y, Wang H, Wang D, Wang Q.
    Chin Med J (Engl); 2014 Apr; 127(18):3233-7. PubMed ID: 25266519
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  • 3. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
    Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, Xu CY, Duan L, Xu BC, Guo YF.
    Int J Pediatr Otorhinolaryngol; 2020 Sep; 136():110143. PubMed ID: 32645618
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  • 4. 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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  • 6. Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).
    Mishra S, Pandey H, Srivastava P, Mandal K, Phadke SR.
    Indian J Pediatr; 2018 Dec; 85(12):1061-1066. PubMed ID: 29542069
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  • 9. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.
    Abe S, Kelley PM, Kimberling WJ, Usami SI.
    Am J Med Genet; 2001 Nov 01; 103(4):334-8. PubMed ID: 11746015
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  • 10. 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. Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
    Danilenko N, Merkulava E, Siniauskaya M, Olejnik O, Levaya-Smaliak A, Kushniarevich A, Shymkevich A, Davydenko O.
    PLoS One; 2012 Oct 10; 7(5):e36354. PubMed ID: 22567152
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  • 15. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
    Loeza-Becerra F, Rivera-Vega Mdel R, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P, Cuevas-Covarrubias S.
    Int J Pediatr Otorhinolaryngol; 2014 Jul 10; 78(7):1057-60. PubMed ID: 24774219
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  • 16. GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
    Chen G, He F, Fu S, Dong J.
    Int J Pediatr Otorhinolaryngol; 2011 Sep 10; 75(9):1156-9. PubMed ID: 21777984
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