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Journal Abstract Search

278 related items for PubMed ID: 24875298

  • 1. Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
    Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T.
    Genet Med; 2014 Dec; 16(12):945-53. PubMed ID: 24875298
    [Abstract] [Full Text] [Related]

  • 2. Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
    Raghuvanshi R, Panda KC, Ray CS, Ramchander PV.
    Genet Test Mol Biomarkers; 2024 Aug; 28(8):328-336. PubMed ID: 39019031
    [Abstract] [Full Text] [Related]

  • 3. Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next-generation sequencing.
    Xiao C, Liu S, Wang H, Ding Y, Chen Y, Liu H.
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1634. PubMed ID: 33638616
    [Abstract] [Full Text] [Related]

  • 4. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
    Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F.
    PLoS One; 2015 Apr; 10(11):e0142154. PubMed ID: 26561413
    [Abstract] [Full Text] [Related]

  • 5. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
    Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, Kudoh J, Kaga K, Kosaki K, Matsunaga T.
    Orphanet J Rare Dis; 2013 Oct 28; 8():172. PubMed ID: 24164807
    [Abstract] [Full Text] [Related]

  • 6. Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
    Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M.
    J Clin Lab Anal; 2020 Dec 28; 34(12):e23544. PubMed ID: 32864763
    [Abstract] [Full Text] [Related]

  • 7. Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
    Tlili A, Mahfood M, Al Mutery A, Chouchen J.
    Hum Genomics; 2024 Jun 07; 18(1):59. PubMed ID: 38844983
    [Abstract] [Full Text] [Related]

  • 8. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
    Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.
    Genet Med; 2003 Jun 07; 5(4):295-303. PubMed ID: 12865758
    [Abstract] [Full Text] [Related]

  • 9. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
    Yang T, Wei X, Chai Y, Li L, Wu H.
    Orphanet J Rare Dis; 2013 Jun 14; 8():85. PubMed ID: 23767834
    [Abstract] [Full Text] [Related]

  • 10. Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
    Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S.
    J Adv Res; 2021 Jul 14; 31():13-24. PubMed ID: 34194829
    [Abstract] [Full Text] [Related]

  • 11. Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.
    Niepokój K, Rygiel AM, Jurczak P, Kujko AA, Śniegórska D, Sawicka J, Grabarczyk A, Bal J, Wertheim-Tysarowska K.
    J Appl Genet; 2018 Feb 14; 59(1):67-72. PubMed ID: 29151245
    [Abstract] [Full Text] [Related]

  • 12. Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.
    Deng Y, Sang S, Wen J, Liu Y, Ling J, Chen H, Cai X, Mei L, Chen X, Li M, Li W, Li T, He C, Feng Y.
    Int J Pediatr Otorhinolaryngol; 2018 Dec 14; 115():114-119. PubMed ID: 30368370
    [Abstract] [Full Text] [Related]

  • 13. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
    Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.
    JAMA; 1999 Jun 16; 281(23):2211-6. PubMed ID: 10376574
    [Abstract] [Full Text] [Related]

  • 14. Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
    Wang R, Han S, Khan A, Zhang X.
    Genet Test Mol Biomarkers; 2017 May 16; 21(5):316-321. PubMed ID: 28281779
    [Abstract] [Full Text] [Related]

  • 15. Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
    Yu X, Lin Y, Xu J, Che T, Li L, Yang T, Wu H.
    Orphanet J Rare Dis; 2020 Jan 28; 15(1):29. PubMed ID: 31992338
    [Abstract] [Full Text] [Related]

  • 16. Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B.
    Wei X, Sun Y, Xie J, Shi Q, Qu N, Yang G, Cai J, Yang Y, Liang Y, Wang W, Yi X.
    Clin Chim Acta; 2012 Nov 20; 413(23-24):1866-71. PubMed ID: 22898263
    [Abstract] [Full Text] [Related]

  • 17. Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
    Chen Y, Wang Z, Wang Z, Chen D, Chai Y, Pang X, Sun L, Wang X, Yang T, Wu H.
    PLoS One; 2015 Nov 20; 10(5):e0127879. PubMed ID: 26011067
    [Abstract] [Full Text] [Related]

  • 18. Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing.
    Bai X, Nian S, Feng L, Ruan Q, Luo X, Wu M, Yan Z.
    Mol Genet Genomic Med; 2019 Aug 20; 7(8):e808. PubMed ID: 31250571
    [Abstract] [Full Text] [Related]

  • 19. 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 20; 136():110143. PubMed ID: 32645618
    [Abstract] [Full Text] [Related]

  • 20. [Analysis of deafness-related gene mutations in 23 nonsyndromic hearing impairment families in Guangxi Zhuang Autonomous Region].
    Shi M, Liu F, Xu L, Liu M, Tang FZ, Liang JP, Lu QT, Zhai SH, Huang J, Chen RC.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2017 Feb 20; 31(4):277-283. PubMed ID: 29871242
    [Abstract] [Full Text] [Related]

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