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Journal Abstract Search

172 related items for PubMed ID: 24746455

  • 1. 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; 78(6):950-3. PubMed ID: 24746455
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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; 78(7):1030-5. PubMed ID: 24814232
    [Abstract] [Full Text] [Related]

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

  • 5. Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
    Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P.
    Eur Arch Otorhinolaryngol; 2019 Dec; 276(12):3353-3358. PubMed ID: 31552524
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
    Iwasa YI, Nishio SY, Yoshimura H, Sugaya A, Kataoka Y, Maeda Y, Kanda Y, Nagai K, Naito Y, Yamazaki H, Ikezono T, Matsuda H, Nakai M, Tona R, Sakurai Y, Motegi R, Takeda H, Kobayashi M, Kihara C, Ishino T, Morita SY, Iwasaki S, Takahashi M, Furutate S, Oka SI, Kubota T, Arai Y, Kobayashi Y, Kikuchi D, Shintani T, Ogasawara N, Honkura Y, Izumi S, Hyogo M, Ninoyu Y, Suematsu M, Nakayama J, Tsuchihashi N, Okami M, Sakata H, Yoshihashi H, Kobayashi T, Kumakawa K, Yoshida T, Esaki T, Usami SI.
    Hum Genet; 2022 Apr 15; 141(3-4):865-875. PubMed ID: 34536124
    [Abstract] [Full Text] [Related]

  • 8. Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.
    Chiu YH, Wu CC, Lu YC, Chen PJ, Lee WY, Liu AY, Hsu CJ.
    Audiol Neurootol; 2010 Apr 15; 15(6):364-74. PubMed ID: 20224275
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr 15; 14(5):e0215932. PubMed ID: 31095577
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 70(4):689-96. PubMed ID: 16226319
    [Abstract] [Full Text] [Related]

  • 11. Audiological findings in Williams syndrome: a study of 69 patients.
    Barozzi S, Soi D, Comiotto E, Borghi A, Gavioli C, Spreafico E, Gagliardi C, Selicorni A, Forti S, Ambrosetti U, Cesarani A, Brambilla D.
    Am J Med Genet A; 2012 Apr 15; 158A(4):759-71. PubMed ID: 22411878
    [Abstract] [Full Text] [Related]

  • 12. [Audiological findings and mitochondrial DNA mutation in a large family with matrilineal sensorineural hearing loss].
    Xing G, Bu X, Yan M, Lu L, Yang S.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2000 Apr 15; 35(2):98-101. PubMed ID: 12768662
    [Abstract] [Full Text] [Related]

  • 13. A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
    Morlet T, Rabinowitz MR, Looney LR, Riegner T, Greenwood LA, Sherman EA, Achilly N, Zhu A, Yoo E, O'Reilly RC, Jinks RN, Puffenberger EG, Heaps A, Morton H, Strauss KA.
    Laryngoscope; 2014 Mar 15; 124(3):E95-103. PubMed ID: 23946138
    [Abstract] [Full Text] [Related]

  • 14. [Objective audiometry and clinical application].
    Cebulla M, Ehrmann-Müller D, Shehata-Dieler W.
    HNO; 2018 Jan 15; 66(1):75-86. PubMed ID: 29222679
    [Abstract] [Full Text] [Related]

  • 15. [The audiological phenotype and the prevalence of GJB2-related sensorineural loss of hearing in the infants suffering acoustic disturbances].
    Lalaiants MR, Markova TG, Bakhshinian VV, Bliznets EA, Poliakov AV, Tavartikiladze GA.
    Vestn Otorinolaringol; 2014 Jan 15; (2):37-43. PubMed ID: 24781170
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 51(12):870-9. PubMed ID: 23013294
    [Abstract] [Full Text] [Related]

  • 17. [Evaluation of a family with sensorineural hearing loss due to the Q829X mutation in the OTOF gene].
    Gallo-Terán J, Megía López R, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón Gutiérrez A, Moreno Herrero F.
    Acta Otorrinolaringol Esp; 2004 Mar 15; 55(3):120-5. PubMed ID: 15253338
    [Abstract] [Full Text] [Related]

  • 18. 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]

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

  • 20. Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
    Frydman M, Vreugde S, Nageris BI, Weiss S, Vahava O, Avraham KB.
    Arch Otolaryngol Head Neck Surg; 2000 May 13; 126(5):633-7. PubMed ID: 10807331
    [Abstract] [Full Text] [Related]

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