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Journal Abstract Search

252 related items for PubMed ID: 36833326

  • 21. GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
    Zheng J, Ying Z, Cai Z, Sun D, He Z, Gao Y, Zhang T, Zhu Y, Chen Y, Guan MX.
    PLoS One; 2015; 10(6):e0128691. PubMed ID: 26043044
    [Abstract] [Full Text] [Related]

  • 22. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
    Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T, Otto PA, Mingroni-Netto RC.
    Ear Hear; 2009 Feb; 30(1):1-7. PubMed ID: 19125024
    [Abstract] [Full Text] [Related]

  • 23. [Spectrum of GJB6 variants in 318 pedigrees with non-syndromic hearing loss:one deafness pedigree carrying both GJB6 and GJB2 deletion variant].
    Zheng BJ, Zhang T, Wang H, Tang XW, Zheng J, Lv JX, Guan MX.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2016 Jun 20; 30(12):933-937. PubMed ID: 29771057
    [Abstract] [Full Text] [Related]

  • 24. Hearing Impairment Overview in Africa: the Case of Cameroon.
    Wonkam Tingang E, Noubiap JJ, F Fokouo JV, Oluwole OG, Nguefack S, Chimusa ER, Wonkam A.
    Genes (Basel); 2020 Feb 22; 11(2):. PubMed ID: 32098311
    [Abstract] [Full Text] [Related]

  • 25. The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
    Koenighofer M, Lucas T, Parzefall T, Ramsebner R, Schoefer C, Frei K.
    Eur Arch Otorhinolaryngol; 2015 Jan 22; 272(1):229-32. PubMed ID: 25085637
    [Abstract] [Full Text] [Related]

  • 26. Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
    Elsayed O, Al-Shamsi A.
    Mol Genet Genomic Med; 2022 Nov 22; 10(11):e2052. PubMed ID: 36056583
    [Abstract] [Full Text] [Related]

  • 27. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
    Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV.
    J Hum Genet; 2017 Aug 22; 62(8):789-795. PubMed ID: 28405014
    [Abstract] [Full Text] [Related]

  • 28. Hearing loss in Africa: current genetic profile.
    Adadey SM, Wonkam-Tingang E, Aboagye ET, Quaye O, Awandare GA, Wonkam A.
    Hum Genet; 2022 Apr 22; 141(3-4):505-517. PubMed ID: 34609590
    [Abstract] [Full Text] [Related]

  • 29. Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
    Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M.
    Ear Hear; 2022 Apr 22; 43(3):1049-1066. PubMed ID: 34753855
    [Abstract] [Full Text] [Related]

  • 30. Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.
    Xiang J, Sun X, Song N, Ramaswamy S, Abou Tayoun AN, Peng Z.
    Hum Genet; 2023 Jan 22; 142(1):33-43. PubMed ID: 36048236
    [Abstract] [Full Text] [Related]

  • 31. Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
    Liu Y, Tan M, Cai L, Lv L, Chen Q, Chen W, Yang H, Xu Y.
    Gene; 2022 Apr 20; 819():146258. PubMed ID: 35114279
    [Abstract] [Full Text] [Related]

  • 32. [Genetic analysis of GJB2 in a Chinese family with nonsyndromic hearing impairment].
    Zhu QH, Li H, Liu P, Zhu ZF, Wang X, Yuan WL, Liu JY, Mao HY, Wang Q, Liu MG.
    Yi Chuan; 2007 Feb 20; 29(2):172-6. PubMed ID: 17369171
    [Abstract] [Full Text] [Related]

  • 33. Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
    Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E.
    Int J Mol Sci; 2022 Dec 12; 23(24):. PubMed ID: 36555390
    [Abstract] [Full Text] [Related]

  • 34. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
    Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM.
    J Mol Med (Berl); 2006 Mar 12; 84(3):226-31. PubMed ID: 16389551
    [Abstract] [Full Text] [Related]

  • 35. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
    Lee J, Baek JI, Choi JY, Kim UK, Lee SH, Lee KY.
    Gene; 2013 Dec 15; 532(2):276-80. PubMed ID: 23958653
    [Abstract] [Full Text] [Related]

  • 36. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
    Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.
    Am J Hum Genet; 2003 Dec 15; 73(6):1452-8. PubMed ID: 14571368
    [Abstract] [Full Text] [Related]

  • 37. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
    Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M.
    Genet Test Mol Biomarkers; 2011 Dec 15; 15(1-2):29-33. PubMed ID: 21117948
    [Abstract] [Full Text] [Related]

  • 38. A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
    Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY.
    J Mol Med (Berl); 2014 Jun 15; 92(6):651-63. PubMed ID: 24526180
    [Abstract] [Full Text] [Related]

  • 39. Screening for GJB2-R143W-Associated Hearing Impairment: Implications for Health Policy and Practice in Ghana.
    Adadey SM, Quaye O, Amedofu GK, Awandare GA, Wonkam A.
    Public Health Genomics; 2020 Jun 15; 23(5-6):184-189. PubMed ID: 33302283
    [Abstract] [Full Text] [Related]

  • 40. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
    Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I.
    Genes (Basel); 2022 Jan 15; 13(1):. PubMed ID: 35052489
    [Abstract] [Full Text] [Related]

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