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Journal Abstract Search

187 related items for PubMed ID: 31412945

  • 1. 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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  • 2. TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
    Battelino S, Klancar G, Kovac J, Battelino T, Trebusak Podkrajsek K.
    Eur Arch Otorhinolaryngol; 2016 May 14; 273(5):1151-4. PubMed ID: 26036852
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  • 4. Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
    Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P.
    Clin Genet; 2020 Dec 14; 98(6):548-554. PubMed ID: 32860223
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  • 8. 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 14; 2017():4707315. PubMed ID: 28246597
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  • 9. Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
    Aboagye ET, Adadey SM, Wonkam-Tingang E, Amenga-Etego L, Awandare GA, Wonkam A.
    Genes (Basel); 2023 Feb 03; 14(2):. PubMed ID: 36833326
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  • 10. 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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  • 11. Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
    Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P.
    Neural Plast; 2017 Dec 15; 2017():3192090. PubMed ID: 28695016
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  • 12. 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 15; 44(6):e81. PubMed ID: 17551081
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  • 13. Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.
    Fan D, Zhu W, Li D, Ji D, Wang P.
    PLoS One; 2014 Jun 15; 9(12):e114136. PubMed ID: 25474651
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  • 14. Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
    Liu Y, Tan M, Cai L, Lv L, Chen Q, Chen W, Yang H, Xu Y.
    Gene; 2022 Apr 20; 819():146258. PubMed ID: 35114279
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  • 15. [Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].
    Wang Y, Liang Y, Huang B, Cen X, Huang L, Chen K.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2024 Aug 20; 38(8):679-686. PubMed ID: 39118504
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  • 16. Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
    Sansović I, Meašić AM, Bobinec A, Morožin Pohovski L, Odak L, Vulin K, Lozić B, Kero M, Huljev Frković S, Pušeljić S.
    Croat Med J; 2024 Jun 13; 65(3):198-208. PubMed ID: 38868966
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  • 17. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
    Guipponi M, Toh MY, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZ, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJ, Dahl HH, Petersen M, Teasdale RD, Estivill X, Park WJ, Scott HS.
    Hum Mutat; 2008 Jan 13; 29(1):130-41. PubMed ID: 17918732
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  • 18. 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 13; 7(6):e685. PubMed ID: 31016883
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  • 19. Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
    Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M.
    Ear Hear; 2022 Jun 13; 43(3):1049-1066. PubMed ID: 34753855
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  • 20. 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 13; 143(5):721-734. PubMed ID: 38691166
    [Abstract] [Full Text] [Related]

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