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Journal Abstract Search

242 related items for PubMed ID: 29921236

  • 1. Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
    Amritkumar P, Jeffrey JM, Chandru J, Vanniya S P, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, Srikumari Srisailapathy CR.
    BMC Med Genet; 2018 Jun 19; 19(1):105. PubMed ID: 29921236
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  • 3. Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
    Falah M, Houshmand M, Balali M, Asghari A, Bagher Z, Alizadeh R, Farhadi M.
    Fetal Pediatr Pathol; 2020 Feb 19; 39(1):1-12. PubMed ID: 31215297
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  • 5. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
    Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.
    Genet Med; 2003 Feb 19; 5(4):295-303. PubMed ID: 12865758
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  • 7. Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.
    Vanniya S P, Chandru J, Pavithra A, Jeffrey JM, Kalaimathi M, Ramakrishnan R, Karthikeyen NP, C R Srikumari S.
    Ann Hum Genet; 2018 Mar 19; 82(2):119-126. PubMed ID: 29148562
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  • 8. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
    Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH.
    Arch Otolaryngol Head Neck Surg; 2003 Aug 19; 129(8):836-40. PubMed ID: 12925341
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  • 11. 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 19; 30(1):1-7. PubMed ID: 19125024
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  • 13. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
    Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.
    Int J Pediatr Otorhinolaryngol; 2010 Mar 19; 74(3):250-4. PubMed ID: 20022641
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  • 14. 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 19; 71(6):869-73. PubMed ID: 17368814
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  • 15. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
    Padma G, Ramchander PV, Nandur UV, Padma T.
    J Genet; 2009 Dec 19; 88(3):267-72. PubMed ID: 20086291
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  • 16. 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 19; 62(8):789-795. PubMed ID: 28405014
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  • 19. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
    del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F.
    N Engl J Med; 2002 Jan 24; 346(4):243-9. PubMed ID: 11807148
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  • 20. Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?
    Caroça C, de Matos TM, Ribeiro D, Lourenço V, Martins T, Campelo P, Fialho G, Silva SN, Paço J, Caria H.
    OMICS; 2016 Aug 24; 20(8):449-55. PubMed ID: 27501294
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