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302 related items for PubMed ID: 30953472

  • 1. Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
    Zhang J, Guan J, Wang H, Yin L, Wang D, Zhao L, Zhou H, Wang Q.
    BMC Med Genet; 2019 Apr 05; 20(1):60. PubMed ID: 30953472
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  • 2. Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.
    Fu Y, Huang S, Gao X, Han M, Wang G, Kang D, Yuan Y, Dai P.
    BMC Med Genomics; 2022 Mar 26; 15(1):71. PubMed ID: 35346193
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  • 3. Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
    Yang JY, Wang WQ, Han MY, Huang SS, Wang GJ, Su Y, Xu JC, Fu Y, Kang DY, Yang K, Zhang X, Liu X, Gao X, Yuan YY, Dai P.
    BMC Med Genomics; 2022 Nov 18; 15(1):241. PubMed ID: 36401330
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  • 4. Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.
    Chang MY, Lee C, Han JH, Kim MY, Park HR, Kim N, Park WY, Oh DY, Choi BY.
    BMC Med Genet; 2018 Feb 27; 19(1):29. PubMed ID: 29482514
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  • 5. [Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss].
    Lin Y, Xu J, Yang T.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2024 Jan 27; 38(1):38-43. PubMed ID: 38297847
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  • 6. A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
    Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J.
    Eur J Hum Genet; 2021 Jun 27; 29(6):988-997. PubMed ID: 33398081
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  • 8. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
    Sarmadi A, Nasrniya S, Narrei S, Nouri Z, Abtahi H, Tabatabaiefar MA.
    Mol Biol Rep; 2020 Jul 27; 47(7):5355-5364. PubMed ID: 32623615
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  • 10. A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report.
    Ma D, Shen S, Gao H, Guo H, Lin Y, Hu Y, Zhang R, Wang S.
    BMC Med Genet; 2018 Aug 01; 19(1):133. PubMed ID: 30068307
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  • 12. Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
    Wang L, Zhang Y, Xue Q, Huang P, Liu X.
    J Clin Lab Anal; 2022 Oct 01; 36(10):e24653. PubMed ID: 36217262
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  • 19. A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss.
    Li W, Guo L, Li Y, Wu Q, Li Q, Li H, Dai C.
    Int J Pediatr Otorhinolaryngol; 2016 Feb 01; 81():92-5. PubMed ID: 26810297
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  • 20. Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family.
    Reiisi S, Tabatabaiefar MA, Sanati MH, Chaleshtori MH.
    Iran J Basic Med Sci; 2016 Jul 01; 19(7):772-8. PubMed ID: 27635202
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