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Journal Abstract Search

297 related items for PubMed ID: 14635104

  • 1. 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; 22(6):451-6. PubMed ID: 14635104
    [Abstract] [Full Text] [Related]

  • 2. Results of cochlear implantation in two children with mutations in the OTOF gene.
    Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabédian EN, Loundon N.
    Int J Pediatr Otorhinolaryngol; 2006 Apr; 70(4):689-96. PubMed ID: 16226319
    [Abstract] [Full Text] [Related]

  • 3. 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; 29(6):823-31. PubMed ID: 18381613
    [Abstract] [Full Text] [Related]

  • 4. Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
    Santarelli R, Scimemi P, Costantini M, Domínguez-Ruiz M, Rodríguez-Ballesteros M, Del Castillo I.
    Ear Hear; 2008 Jun; 42(6):1627-1639. PubMed ID: 33908410
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.
    Yamasoba T, Tsukuda K, Suzuki M.
    Acta Otolaryngol Suppl; 2007 Dec 09; (559):13-8. PubMed ID: 18340555
    [Abstract] [Full Text] [Related]

  • 7. Molecular study of patients with auditory neuropathy.
    Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL.
    Mol Med Rep; 2016 Jul 09; 14(1):481-90. PubMed ID: 27177047
    [Abstract] [Full Text] [Related]

  • 8. Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations.
    Santarelli R, del Castillo I, Cama E, Scimemi P, Starr A.
    Hear Res; 2015 Dec 09; 330(Pt B):200-12. PubMed ID: 26188103
    [Abstract] [Full Text] [Related]

  • 9. Familial auditory neuropathy.
    Wang Q, Gu R, Han D, Yang W.
    Laryngoscope; 2003 Sep 09; 113(9):1623-9. PubMed ID: 12972945
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 78(6):950-3. PubMed ID: 24746455
    [Abstract] [Full Text] [Related]

  • 11. Auditory neuropathy or endocochlear hearing loss?
    Loundon N, Marcolla A, Roux I, Rouillon I, Denoyelle F, Feldmann D, Marlin S, Garabedian EN.
    Otol Neurotol; 2005 Jul 09; 26(4):748-54. PubMed ID: 16015179
    [Abstract] [Full Text] [Related]

  • 12. Auditory neuropathy characteristics in children with cochlear nerve deficiency.
    Buchman CA, Roush PA, Teagle HF, Brown CJ, Zdanski CJ, Grose JH.
    Ear Hear; 2006 Aug 09; 27(4):399-408. PubMed ID: 16825889
    [Abstract] [Full Text] [Related]

  • 13. 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 Aug 09; 14(5):e0215932. PubMed ID: 31095577
    [Abstract] [Full Text] [Related]

  • 14. OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
    Santarelli R, Rossi R, Scimemi P, Cama E, Valentino ML, La Morgia C, Caporali L, Liguori R, Magnavita V, Monteleone A, Biscaro A, Arslan E, Carelli V.
    Brain; 2015 Mar 09; 138(Pt 3):563-76. PubMed ID: 25564500
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.
    Kitao K, Mutai H, Namba K, Morimoto N, Nakano A, Arimoto Y, Sugiuchi T, Masuda S, Okamoto Y, Morita N, Sakamoto H, Shintani T, Fukuda S, Kaga K, Matsunaga T.
    Ear Hear; 2019 Sep 15; 40(1):184-191. PubMed ID: 29688962
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. [Specificity and sensitivity of transient click-evoked otoacoustic emissions (TEOAE)].
    Pröschel U, Eysholdt U.
    Laryngorhinootologie; 1995 Aug 13; 74(8):481-8. PubMed ID: 7575899
    [Abstract] [Full Text] [Related]

  • 19. [Effect of inner ear hearing loss on delayed otoacoustic emissions (TEOAE) and distortion products (DPOAE)].
    Hoth S.
    Laryngorhinootologie; 1996 Dec 13; 75(12):709-18. PubMed ID: 9081275
    [Abstract] [Full Text] [Related]

  • 20. Audiological and radiological characteristics of a family with T961G mitochondrial mutation.
    Turchetta R, Mazzei F, Celani T, Cammeresi MG, Orlando MP, Altissimi G, de Vincentiis C, D'Ambrosio F, Messineo D, Ferraris A, Cianfrone G.
    Int J Audiol; 2012 Dec 13; 51(12):870-9. PubMed ID: 23013294
    [Abstract] [Full Text] [Related]

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