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PUBMED FOR HANDHELDS

Journal Abstract Search


405 related items for PubMed ID: 32911884

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  • 5. Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
    Usami SI, Isaka Y, Miyagawa M, Nishio SY.
    Hum Genet; 2022 Apr; 141(3-4):903-914. PubMed ID: 35020051
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  • 7. Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing.
    Becirovic E, Ebermann I, Nagy D, Zrenner E, Seeliger MW, Bolz HJ.
    Hum Mutat; 2008 Mar; 29(3):452. PubMed ID: 18273900
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  • 10. [Genetic diagnosis of a pedigree affected with Usher syndrome type 1D/F].
    Kang H, Zhao K, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct 10; 38(10):951-954. PubMed ID: 34625930
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  • 14. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
    Zheng K, Lin S, Gao J, Chen S, Su J, Liu Z, Duan S.
    BMC Med Genomics; 2024 Jan 02; 17(1):4. PubMed ID: 38167320
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  • 15. Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient.
    Zhang L, Cheng J, Zhou Q, Khan MA, Fu J, Duan C, Sun S, Lv H, Fu J.
    Front Genet; 2020 Jan 02; 11():422. PubMed ID: 32425987
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  • 16. [Splicing mutations of GSDME cause late-onset non-syndromic hearing loss].
    Li D, Wang H, Wang Q.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2024 Jan 02; 38(1):30-37. PubMed ID: 38297846
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  • 17. CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
    Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ.
    Am J Hum Genet; 2002 Aug 02; 71(2):262-75. PubMed ID: 12075507
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  • 18. Identification of novel CDH23 variants linked to hearing loss in a Chinese family: A case report.
    Sun J, Ren D, Gong M, Guo X, Zhang Y, Du B.
    Medicine (Baltimore); 2024 Sep 13; 103(37):e39360. PubMed ID: 39287240
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  • 19. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.
    Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ.
    Am J Hum Genet; 2001 Jan 13; 68(1):26-37. PubMed ID: 11090341
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  • 20. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
    Feng ML, Huang SS, Tang FZ, Zhang X, Li XH, Qiu SW, Yuan YY.
    Zhonghua Yi Xue Za Zhi; 2021 Jan 12; 101(2):115-121. PubMed ID: 33455126
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