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Journal Abstract Search

139 related items for PubMed ID: 15353998

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
    Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.
    J Med Genet; 2011 Nov; 48(11):767-75. PubMed ID: 21940737
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  • 4. Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23.
    Branson SV, McClintic JI, Stamper TH, Haldeman-Englert CR, John VJ.
    Ophthalmic Surg Lasers Imaging Retina; 2016 Feb; 47(2):183-6. PubMed ID: 26878454
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  • 5. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
    Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.
    Clin Genet; 2007 Oct; 72(4):339-44. PubMed ID: 17850630
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  • 8. Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in CDH23.
    Dhoble P, de Guimarães TAC, Webster AR, Michaelides M.
    Ophthalmic Genet; 2024 Oct; 45(5):516-521. PubMed ID: 39092760
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  • 9. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
    von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A.
    Hum Mutat; 2002 Mar; 19(3):268-73. PubMed ID: 11857743
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  • 10. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the CDH23 gene].
    Chen B, Zhang S, Tian YA, Liu HF, Liu DH, Xue X, Li RJ, Hu XX, Guan JY, Tang WX, Xu HE.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep 07; 55(9):822-829. PubMed ID: 32911884
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  • 11. Clinical presentation of DFNB12 and Usher syndrome type 1D.
    Bork JM, Morell RJ, Khan S, Riazuddin S, Wilcox ER, Friedman TB, Griffith AJ.
    Adv Otorhinolaryngol; 2002 Sep 07; 61():145-52. PubMed ID: 12408077
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  • 12. Haplotype analysis of the USH1D locus and genotype-phenotype correlations.
    Liu XZ, Blanton SH, Bitner-Glindzicz M, Pandya A, Landa B, MacArdle B, Rajput K, Bellman S, Webb BT, Ping X, Smith RJ, Nance WE.
    Clin Genet; 2001 Jul 07; 60(1):58-62. PubMed ID: 11531971
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  • 13. A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
    Khorram E, Iravani O, Khorrami M, Amini M, Jahanian S, Nilforoush MH, Mousavi SR, Ehsanifard M, Kheirollahi M.
    Audiol Neurootol; 2023 Jul 07; 28(4):317-326. PubMed ID: 37088079
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  • 14. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
    Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C.
    Nat Genet; 2001 Jan 07; 27(1):108-12. PubMed ID: 11138009
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  • 15. An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
    Manji SS, Miller KA, Williams LH, Andreasen L, Siboe M, Rose E, Bahlo M, Kuiper M, Dahl HH.
    Am J Pathol; 2011 Aug 07; 179(2):903-14. PubMed ID: 21689626
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  • 16. 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 07; 29(3):452. PubMed ID: 18273900
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  • 17. Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
    Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY.
    PLoS One; 2016 Mar 07; 11(10):e0165680. PubMed ID: 27792758
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  • 18. 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 07; 141(3-4):903-914. PubMed ID: 35020051
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  • 19. Usher syndrome type III can mimic other types of Usher syndrome.
    Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW.
    Ann Otol Rhinol Laryngol; 2003 Jun 07; 112(6):525-30. PubMed ID: 12834121
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  • 20. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.
    Schwander M, Xiong W, Tokita J, Lelli A, Elledge HM, Kazmierczak P, Sczaniecka A, Kolatkar A, Wiltshire T, Kuhn P, Holt JR, Kachar B, Tarantino L, Müller U.
    Proc Natl Acad Sci U S A; 2009 Mar 31; 106(13):5252-7. PubMed ID: 19270079
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