These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

181 related items for PubMed ID: 20230791

  • 1. 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]

  • 2. 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 09; 29(6):823-31. PubMed ID: 18381613
    [Abstract] [Full Text] [Related]

  • 3. 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 09; 70(4):689-96. PubMed ID: 16226319
    [Abstract] [Full Text] [Related]

  • 4. Novel OTOF mutations in Brazilian patients with auditory neuropathy.
    Romanos J, Kimura L, Fávero ML, Izarra FA, de Mello Auricchio MT, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC.
    J Hum Genet; 2009 Jul 09; 54(7):382-5. PubMed ID: 19461658
    [Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. 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]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
    Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G.
    Hum Genet; 2002 May 15; 110(5):389-94. PubMed ID: 12073007
    [Abstract] [Full Text] [Related]

  • 13. Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.
    Wang DY, Wang YC, Weil D, Zhao YL, Rao SQ, Zong L, Ji YB, Liu Q, Li JQ, Yang HM, Shen Y, Benedict-Alderfer C, Zheng QY, Petit C, Wang QJ.
    BMC Med Genet; 2010 May 26; 11():79. PubMed ID: 20504331
    [Abstract] [Full Text] [Related]

  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Azaiez H, Thorpe RK, Smith RJH.
    ; 1993 May 26. PubMed ID: 20301429
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 26; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 17. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
    Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.
    Clin Genet; 2009 Mar 26; 75(3):237-43. PubMed ID: 19250381
    [Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Molecular study of patients with auditory neuropathy.
    Carvalho GM, Ramos PZ, Castilho AM, Guimarães AC, Sartorato EL.
    Mol Med Rep; 2016 Jul 26; 14(1):481-90. PubMed ID: 27177047
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.