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Journal Abstract Search

120 related items for PubMed ID: 11424922

  • 1. Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
    Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ.
    J Med Genet; 2001 Jun; 38(6):396-400. PubMed ID: 11424922
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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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  • 10. 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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  • 15. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
    Lee K, Khan S, Islam A, Ansar M, Andrade PB, Kim S, Santos-Cortez RL, Ahmad W, Leal SM.
    Clin Genet; 2012 Jul 15; 82(1):56-63. PubMed ID: 21534946
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  • 16. Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
    Weegerink NJ, Schraders M, Oostrik J, Huygen PL, Strom TM, Granneman S, Pennings RJ, Venselaar H, Hoefsloot LH, Elting M, Cremers CW, Admiraal RJ, Kremer H, Kunst HP.
    J Assoc Res Otolaryngol; 2011 Dec 15; 12(6):753-66. PubMed ID: 21786053
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  • 17. 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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  • 20. Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8.
    Du W, Ergin V, Loeb C, Huang M, Silver S, Armstrong AM, Huang Z, Gurumurthy CB, Staecker H, Liu X, Chen ZY.
    Mol Ther; 2023 Sep 06; 31(9):2796-2810. PubMed ID: 37244253
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