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Journal Abstract Search


162 related items for PubMed ID: 38691166

  • 1. The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
    Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW, DOOFNL Consortium, Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ.
    Hum Genet; 2024 May; 143(5):721-734. PubMed ID: 38691166
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  • 5. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
    Lee J, Baek JI, Choi JY, Kim UK, Lee SH, Lee KY.
    Gene; 2013 Dec 15; 532(2):276-80. PubMed ID: 23958653
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  • 6. Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
    Gao X, Yuan YY, Wang GJ, Xu JC, Su Y, Lin X, Dai P.
    Biomed Res Int; 2017 Dec 15; 2017():4707315. PubMed ID: 28246597
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  • 7. Structural analysis of pathogenic TMPRSS3 variants and their cochlear implantation outcomes of sensorineural hearing loss.
    Lee SJ, Lee S, Han JH, Choi BY, Lee JH, Lee DH, Lee SY, Oh SH.
    Gene; 2023 May 20; 865():147335. PubMed ID: 36871673
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  • 9. Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
    Carlson RJ, Walsh T, Mandell JB, Aburayyan A, Lee MK, Gulsuner S, Horn DL, Ou HC, Sie KCY, Mancl L, Rubinstein J, King MC.
    JAMA Otolaryngol Head Neck Surg; 2023 Mar 01; 149(3):212-222. PubMed ID: 36633841
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  • 10. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
    Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.
    Eur Arch Otorhinolaryngol; 2016 May 01; 273(5):1151-4. PubMed ID: 26036852
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  • 11. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
    Elbracht M, Senderek J, Eggermann T, Thürmer C, Park J, Westhofen M, Zerres K.
    J Med Genet; 2007 Jun 01; 44(6):e81. PubMed ID: 17551081
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  • 13. Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss.
    Li X, Tan B, Wang X, Xu X, Wang C, Zhong M, Zhao Q, Bao Z, Peng W, Zhang L, Cheng J, Lu Y, Wu P, Yuan H.
    Mol Genet Genomic Med; 2019 Jun 01; 7(6):e685. PubMed ID: 31016883
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  • 15. Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
    Ołdak M, Lechowicz U, Pollak A, Oziębło D, Skarżyński H.
    J Transl Med; 2019 Aug 14; 17(1):269. PubMed ID: 31412945
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  • 16. In Vivo Electrocochleography in Hybrid Cochlear Implant Users Implicates TMPRSS3 in Spiral Ganglion Function.
    Shearer AE, Tejani VD, Brown CJ, Abbas PJ, Hansen MR, Gantz BJ, Smith RJH.
    Sci Rep; 2018 Sep 21; 8(1):14165. PubMed ID: 30242206
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  • 18. The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
    Miyagawa M, Nishio SY, Sakurai Y, Hattori M, Tsukada K, Moteki H, Kojima H, Usami S.
    Ann Otol Rhinol Laryngol; 2015 May 21; 124 Suppl 1():193S-204S. PubMed ID: 25770132
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