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Journal Abstract Search

180 related items for PubMed ID: 22906306

  • 1. Screening of OTOF mutations in Iran: a novel mutation and review.
    Mahdieh N, Shirkavand A, Rabbani B, Tekin M, Akbari B, Akbari MT, Zeinali S.
    Int J Pediatr Otorhinolaryngol; 2012 Nov; 76(11):1610-5. PubMed ID: 22906306
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  • 2. GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
    Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA.
    Int J Pediatr Otorhinolaryngol; 2018 Apr; 107():121-126. PubMed ID: 29501291
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  • 3. Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.
    Mahdieh N, Rabbani B, Shirkavand A, Bagherian H, Movahed ZS, Fouladi P, Rahiminejad F, Masoudifard M, Akbari MT, Zeinali S.
    Genet Test Mol Biomarkers; 2011 Apr; 15(7-8):489-93. PubMed ID: 21388256
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  • 4. A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss.
    Tabatabaiefar MA, Pourreza MR, Tahmasebi P, Saki N, Hashemzadeh Chaleshtori M, Salehi R, Mohammadi-Asl J.
    Otolaryngol Head Neck Surg; 2018 Jun; 158(6):1084-1092. PubMed ID: 29484972
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Identification of homozygous mutations for hearing loss.
    Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A.
    Gene; 2021 Apr 30; 778():145464. PubMed ID: 33524517
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  • 7. OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
    Iwasa Y, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S.
    BMC Med Genet; 2013 Sep 22; 14():95. PubMed ID: 24053799
    [Abstract] [Full Text] [Related]

  • 8. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
    Esmaeili M, Bonyadi M, Nejadkazem M.
    Int J Pediatr Otorhinolaryngol; 2007 Jun 22; 71(6):869-73. PubMed ID: 17368814
    [Abstract] [Full Text] [Related]

  • 9. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
    Bazazzadegan N, Sheffield AM, Sobhani M, Kahrizi K, Meyer NC, Van Camp G, Hilgert N, Abedini SS, Habibi F, Daneshi A, Nishimura C, Avenarius MR, Farhadi M, Smith RJ, Najmabadi H.
    Am J Med Genet A; 2011 May 22; 155A(5):1202-11. PubMed ID: 21484990
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  • 11. Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
    Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M.
    J Clin Lab Anal; 2020 Dec 22; 34(12):e23544. PubMed ID: 32864763
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  • 13. GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
    Koohiyan M, Koohian F, Azadegan-Dehkordi F.
    Ann Hum Genet; 2020 Mar 22; 84(2):107-113. PubMed ID: 31512227
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  • 16. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
    Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H.
    Hum Mutat; 2005 Dec 22; 26(6):591. PubMed ID: 16287143
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  • 18. 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 22; 75(3):237-43. PubMed ID: 19250381
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  • 19. Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL).
    Bonyadi M, Fotouhi N, Esmaeili M.
    Int J Pediatr Otorhinolaryngol; 2011 Dec 22; 75(12):1612-5. PubMed ID: 22000900
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