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PUBMED FOR HANDHELDS

Journal Abstract Search

272 related items for PubMed ID: 29605370

  • 1. A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.
    Asgharzade S, Tabatabaiefar MA, Mohammadi-Asl J, Chaleshtori MH.
    Int J Pediatr Otorhinolaryngol; 2018 May; 108():8-11. PubMed ID: 29605370
    [Abstract] [Full Text] [Related]

  • 2. Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.
    Wu CC, Lin YH, Lu YC, Chen PJ, Yang WS, Hsu CJ, Chen PL.
    PLoS One; 2013 May; 8(2):e57369. PubMed ID: 23451214
    [Abstract] [Full Text] [Related]

  • 3. A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
    Ghasemnejad T, Shekari Khaniani M, Nouri Nojadeh J, Mansoori Derakhshan S.
    BMC Med Genomics; 2022 Feb 01; 15(1):18. PubMed ID: 35101039
    [Abstract] [Full Text] [Related]

  • 4. Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.
    Zarepour N, Koohiyan M, Taghipour-Sheshdeh A, Nemati-Zargaran F, Saki N, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M.
    Audiol Neurootol; 2019 Feb 01; 24(1):25-31. PubMed ID: 30943474
    [Abstract] [Full Text] [Related]

  • 5. A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.
    Azadegan-Dehkordi F, Ahmadi R, Bahrami T, Yazdanpanahi N, Farrokhi E, Tabatabaiefar MA, Hashemzadeh-Chaleshtori M.
    Am J Otolaryngol; 2018 Feb 01; 39(6):719-725. PubMed ID: 30077349
    [Abstract] [Full Text] [Related]

  • 6. A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
    Sarmadi A, Nasrniya S, Soleimani Farsani M, Narrei S, Nouri Z, Sepehrnejad M, Nilforoush MH, Abtahi H, Tabatabaiefar MA.
    BMC Med Genet; 2020 Jun 09; 21(1):127. PubMed ID: 32517708
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  • 11. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
    Guan J, Wang H, Lan L, Wu Y, Chen G, Zhao C, Wang D, Wang Q.
    Mol Genet Genomic Med; 2020 Aug 09; 8(8):e1367. PubMed ID: 32567228
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  • 12. A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
    Fahimi H, Behroozi S, Noavar S, Parvini F.
    BMC Med Genomics; 2021 Feb 02; 14(1):37. PubMed ID: 33530996
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  • 13. A novel TECTA mutation causes ARNSHL.
    Asgharzade S, Tabatabaiefar MA, Modarressi MH, Ghahremani MH, Reiisi S, Tahmasebi P, Abdollahnejad F, Chaleshtori MH.
    Int J Pediatr Otorhinolaryngol; 2017 Jan 02; 92():88-93. PubMed ID: 28012541
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  • 14. 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 02; 158(6):1084-1092. PubMed ID: 29484972
    [Abstract] [Full Text] [Related]

  • 15. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
    Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.
    Int J Pediatr Otorhinolaryngol; 2018 Jan 02; 104():88-93. PubMed ID: 29287889
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  • 16. 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 02; 34(12):e23544. PubMed ID: 32864763
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  • 17. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
    Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.
    Mol Genet Genomics; 2015 Aug 02; 290(4):1327-34. PubMed ID: 25633957
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  • 18. PDZD7 and hearing loss: More than just a modifier.
    Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ.
    Am J Med Genet A; 2015 Dec 02; 167A(12):2957-65. PubMed ID: 26416264
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  • 19. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
    Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O.
    Ear Hear; 2016 Dec 02; 37(4):e238-46. PubMed ID: 26849169
    [Abstract] [Full Text] [Related]

  • 20. Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
    Luo H, Hassan RN, Yan J, Xie J, Du P, Hu Q, Zhu Y, Jiang W.
    Gene; 2019 Aug 15; 709():65-74. PubMed ID: 31129248
    [Abstract] [Full Text] [Related]

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