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Journal Abstract Search


257 related items for PubMed ID: 31095577

  • 1. 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; 14(5):e0215932. PubMed ID: 31095577
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
    Tang F, Ma D, Wang Y, Qiu Y, Liu F, Wang Q, Lu Q, Shi M, Xu L, Liu M, Liang J.
    BMC Med Genet; 2017 Mar 23; 18(1):35. PubMed ID: 28335750
    [Abstract] [Full Text] [Related]

  • 4. High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
    Zhang QJ, Han B, Lan L, Zong L, Shi W, Wang HY, Xie LY, Wang H, Zhao C, Zhang C, Yin ZF, Wang DY, Petit C, Guan J, Wang QJ.
    Clin Genet; 2016 Sep 23; 90(3):238-46. PubMed ID: 26818607
    [Abstract] [Full Text] [Related]

  • 5. 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 23; 22(6):451-6. PubMed ID: 14635104
    [Abstract] [Full Text] [Related]

  • 6. 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 23; 29(6):823-31. PubMed ID: 18381613
    [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 23; 141(3-4):865-875. PubMed ID: 34536124
    [Abstract] [Full Text] [Related]

  • 8. Novel OTOF gene mutations identified using a massively parallel DNA sequencing technique in DFNB9 deafness.
    Wang Y, Lu Y, Cheng J, Zhang L, Han D, Yuan H.
    Acta Otolaryngol; 2018 Oct 23; 138(10):865-870. PubMed ID: 30073893
    [Abstract] [Full Text] [Related]

  • 9. 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 23; 78(7):1030-5. PubMed ID: 24814232
    [Abstract] [Full Text] [Related]

  • 10. Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
    Kim BJ, Jang JH, Han JH, Park HR, Oh DY, Lee S, Kim MY, Kim AR, Lee C, Kim NKD, Park WY, Choung YH, Choi BY.
    J Transl Med; 2018 Nov 27; 16(1):330. PubMed ID: 30482216
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
    Vona B, Rad A, Reisinger E.
    Genes (Basel); 2020 Nov 26; 11(12):. PubMed ID: 33256196
    [Abstract] [Full Text] [Related]

  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Azaiez H, Thorpe RK, Smith RJH.
    ; 1993 Nov 26. PubMed ID: 20301429
    [Abstract] [Full Text] [Related]

  • 14. Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder.
    Dmitriev DA, Shilov BV, Polunin MM, Zadorozhny AD, Lagunin AA.
    Int J Mol Sci; 2023 Dec 07; 24(24):. PubMed ID: 38139069
    [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
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