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Journal Abstract Search

193 related items for PubMed ID: 16097006

  • 1. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
    Tekin M, Akcayoz D, Incesulu A.
    Am J Med Genet A; 2005 Sep 15; 138(1):6-10. PubMed ID: 16097006
    [Abstract] [Full Text] [Related]

  • 2. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
    Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F.
    Biochem Biophys Res Commun; 2010 Apr 09; 394(3):737-42. PubMed ID: 20230791
    [Abstract] [Full Text] [Related]

  • 3. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
    Mirghomizadeh F, Pfister M, Apaydin F, Petit C, Kupka S, Pusch CM, Zenner HP, Blin N.
    Neurobiol Dis; 2002 Jul 09; 10(2):157-64. PubMed ID: 12127154
    [Abstract] [Full Text] [Related]

  • 4. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
    Rodríguez-Ballesteros M, del Castillo FJ, Martín Y, Moreno-Pelayo MA, Morera C, Prieto F, Marco J, Morant A, Gallo-Terán J, Morales-Angulo C, Navas C, Trinidad G, Tapia MC, Moreno F, del Castillo I.
    Hum Mutat; 2003 Dec 09; 22(6):451-6. PubMed ID: 14635104
    [Abstract] [Full Text] [Related]

  • 5. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.
    Yasunaga S, Grati M, Chardenoux S, Smith TN, Friedman TB, Lalwani AK, Wilcox ER, Petit C.
    Am J Hum Genet; 2000 Sep 09; 67(3):591-600. PubMed ID: 10903124
    [Abstract] [Full Text] [Related]

  • 6. Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.
    Forli F, Capobianco S, Berrettini S, Bruschini L, Romano S, Fogli A, Bertini V, Lazzerini F.
    Medicina (Kaunas); 2023 Feb 13; 59(2):. PubMed ID: 36837553
    [Abstract] [Full Text] [Related]

  • 7. Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.
    Jin YJ, Park J, Kim AR, Rah YC, Choi BY.
    Int J Pediatr Otorhinolaryngol; 2014 Jul 13; 78(7):1030-5. PubMed ID: 24814232
    [Abstract] [Full Text] [Related]

  • 8. OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
    Iwasa YI, Nishio SY, Sugaya A, Kataoka Y, Kanda Y, Taniguchi M, Nagai K, Naito Y, Ikezono T, Horie R, Sakurai Y, Matsuoka R, Takeda H, Abe S, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Ito T, Arai Y, Usami SI.
    PLoS One; 2019 Jul 13; 14(5):e0215932. PubMed ID: 31095577
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
    Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.
    Hum Mutat; 2008 Jun 15; 29(6):823-31. PubMed ID: 18381613
    [Abstract] [Full Text] [Related]

  • 11. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
    Sirmaci A, Duman D, Oztürkmen-Akay H, Erbek S, Incesulu A, Oztürk-Hişmi B, Arici ZS, Yüksel-Konuk EB, Taşir-Yilmaz S, Tokgöz-Yilmaz S, Cengiz FB, Aslan I, Yildirim M, Hasanefendioğlu-Bayrak A, Ayçiçek A, Yilmaz I, Fitoz S, Altin F, Ozdağ H, Tekin M.
    Int J Pediatr Otorhinolaryngol; 2009 May 15; 73(5):699-705. PubMed ID: 19187973
    [Abstract] [Full Text] [Related]

  • 12. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
    Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ.
    J Med Genet; 2003 Jan 15; 40(1):45-50. PubMed ID: 12525542
    [No Abstract] [Full Text] [Related]

  • 13. Molecular study of patients with auditory neuropathy.
    Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL.
    Mol Med Rep; 2016 Jul 15; 14(1):481-90. PubMed ID: 27177047
    [Abstract] [Full Text] [Related]

  • 14. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
    Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M.
    Hum Mutat; 2001 Aug 15; 18(2):101-8. PubMed ID: 11462234
    [Abstract] [Full Text] [Related]

  • 15. Evidence for genotype-phenotype correlation for OTOF mutations.
    Yildirim-Baylan M, Bademci G, Duman D, Ozturkmen-Akay H, Tokgoz-Yilmaz S, Tekin M.
    Int J Pediatr Otorhinolaryngol; 2014 Jun 15; 78(6):950-3. PubMed ID: 24746455
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 28(6):571-7. PubMed ID: 17301963
    [Abstract] [Full Text] [Related]

  • 17. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA, Xie DH.
    Chin Med J (Engl); 2004 Dec 15; 117(12):1797-801. PubMed ID: 15603707
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