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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

192 related items for PubMed ID: 27792758

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  • 7. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).
    Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW.
    Otol Neurotol; 2004 Sep; 25(5):699-706. PubMed ID: 15353998
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  • 8. Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
    Ramzan K, Al-Numair NS, Al-Ageel S, Elbaik L, Sakati N, Al-Hazzaa SAF, Al-Owain M, Imtiaz F.
    Genes (Basel); 2020 Dec 09; 11(12):. PubMed ID: 33316915
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  • 9. Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
    Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK.
    BMC Med Genet; 2014 Apr 28; 15():46. PubMed ID: 24767429
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  • 10. 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 28; 141(3-4):903-914. PubMed ID: 35020051
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  • 11. Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.
    Choi HS, Kim AR, Kim SH, Choi BY.
    Eur Arch Otorhinolaryngol; 2016 May 28; 273(5):1123-9. PubMed ID: 26015337
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  • 12. PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India.
    Vanniya S P, Chandru J, Jeffrey JM, Rabinowitz T, Brownstein Z, Krishnamoorthy M, Avraham KB, Cheng L, Shomron N, Srisailapathy CRS.
    Ann Hum Genet; 2022 Jan 28; 86(1):1-13. PubMed ID: 34374074
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  • 16. 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 28; 68(1):26-37. PubMed ID: 11090341
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  • 17. A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.
    Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA.
    Audiol Neurootol; 2020 Jan 28; 25(5):258-262. PubMed ID: 32485727
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  • 18. Identification of novel cadherin 23 variants in a Chinese family with hearing loss.
    Xu T, Zhu W, Wang P, Li H, Yu S.
    Mol Med Rep; 2019 Sep 28; 20(3):2609-2616. PubMed ID: 31322239
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  • 19. Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study.
    Reis CS, Quental S, Fernandes S, Castedo S, Moura CP.
    Cytogenet Genome Res; 2022 Sep 28; 162(1-2):1-9. PubMed ID: 35580552
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