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Journal Abstract Search

139 related items for PubMed ID: 15353998

  • 21. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
    Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW.
    Otol Neurotol; 2003 Jan; 24(1):58-63. PubMed ID: 12544030
    [Abstract] [Full Text] [Related]

  • 22. 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; 11():422. PubMed ID: 32425987
    [Abstract] [Full Text] [Related]

  • 23. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
    de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.
    Hum Genet; 2003 Feb; 112(2):156-63. PubMed ID: 12522556
    [Abstract] [Full Text] [Related]

  • 24. 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 Feb; 25(5):258-262. PubMed ID: 32485727
    [Abstract] [Full Text] [Related]

  • 25. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D.
    Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K.
    Nat Genet; 2001 Jan; 27(1):103-7. PubMed ID: 11138008
    [Abstract] [Full Text] [Related]

  • 26. Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.
    Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S.
    Ann Hum Genet; 2018 Mar; 82(2):119-126. PubMed ID: 29148562
    [Abstract] [Full Text] [Related]

  • 27. A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family.
    Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X.
    Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():108-112. PubMed ID: 29287849
    [Abstract] [Full Text] [Related]

  • 28. Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.
    Verstreken M, Declau F, Wuyts FL, D'Haese P, Van Camp G, Fransen E, Van den Hauwe L, Buyle S, Smets RE, Feenstra L, Van der Stappen A, Van de Heyning PH.
    Otol Neurotol; 2001 Nov; 22(6):874-81. PubMed ID: 11698812
    [Abstract] [Full Text] [Related]

  • 29. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
    Pennings RJ, Kremer H, Deutman AF, Kimberling WJ, Cremers CW.
    Ned Tijdschr Geneeskd; 2002 Dec 07; 146(49):2354-8. PubMed ID: 12510399
    [Abstract] [Full Text] [Related]

  • 30. Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation.
    Tamagawa Y, Ishikawa K, Ishikawa K, Ishida T, Kitamura K, Makino S, Tsuru T, Ichimura K.
    Laryngoscope; 2002 Feb 07; 112(2):292-7. PubMed ID: 11889386
    [Abstract] [Full Text] [Related]

  • 31. Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
    Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.
    Hum Mutat; 2007 Jun 07; 28(6):571-7. PubMed ID: 17301963
    [Abstract] [Full Text] [Related]

  • 32. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract.
    Rosenberg T, Parving A.
    Acta Ophthalmol Scand Suppl; 1996 Jun 07; (219):50-3. PubMed ID: 8741120
    [Abstract] [Full Text] [Related]

  • 33. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
    Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.
    Hum Genet; 2007 Apr 07; 121(2):203-11. PubMed ID: 17171570
    [Abstract] [Full Text] [Related]

  • 34. Comparative study of visual, auditory, and olfactory function in Usher syndrome.
    Seeliger M, Pfister M, Gendo K, Paasch S, Apfelstedt-Sylla E, Plinkert P, Zenner HP, Zrenner E.
    Graefes Arch Clin Exp Ophthalmol; 1999 Apr 07; 237(4):301-7. PubMed ID: 10208263
    [Abstract] [Full Text] [Related]

  • 35. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.
    Keogh IJ, Godinho RN, Wu TP, Diaz de Palacios AM, Palacios N, Bello de Alford M, De Almada MI, MarPalacios N, Vazquez A, Mattei R, Seidman C, Seidman J, Eavey RD.
    Int J Pediatr Otorhinolaryngol; 2004 Aug 07; 68(8):1063-8. PubMed ID: 15236894
    [Abstract] [Full Text] [Related]

  • 36. Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
    Park HR, Kanwal S, Lim SO, Nam DE, Choi YJ, Chung KW.
    Mol Biol Rep; 2020 Dec 07; 47(12):9979-9985. PubMed ID: 33269433
    [Abstract] [Full Text] [Related]

  • 37. Clinical findings in obligate carriers of type I Usher syndrome.
    Wagenaar M, ter Rahe B, van Aarem A, Huygen P, Admiraal R, Bleeker-Wagemakers E, Pinckers A, Kimberling W, Cremers C.
    Am J Med Genet; 1995 Nov 20; 59(3):375-9. PubMed ID: 8599365
    [Abstract] [Full Text] [Related]

  • 38. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec 20; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 39. A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1.
    Menghini M, Cehajic-Kapetanovic J, Yusuf IH, MacLaren RE.
    Ophthalmic Genet; 2019 Dec 20; 40(6):545-548. PubMed ID: 31755791
    [Abstract] [Full Text] [Related]

  • 40. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.
    Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW.
    Laryngoscope; 1999 Sep 20; 109(9):1525-30. PubMed ID: 10499067
    [Abstract] [Full Text] [Related]

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