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Journal Abstract Search

345 related items for PubMed ID: 15345117

  • 1. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
    Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K.
    Genet Test; 2004; 8(2):181-4. PubMed ID: 15345117
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
    Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O.
    Genet Test; 2007 Feb; 11(4):347-52. PubMed ID: 18294049
    [Abstract] [Full Text] [Related]

  • 4. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.
    Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2007 Aug; 71(8):1239-45. PubMed ID: 17553572
    [Abstract] [Full Text] [Related]

  • 5. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.
    Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A.
    Hear Res; 2004 Feb; 188(1-2):42-6. PubMed ID: 14759569
    [Abstract] [Full Text] [Related]

  • 6. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
    Chen K, Wu X, Zong L, Jiang H.
    J Clin Lab Anal; 2018 Nov; 32(9):e22592. PubMed ID: 29926981
    [Abstract] [Full Text] [Related]

  • 7. 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; 74(3):250-4. PubMed ID: 20022641
    [Abstract] [Full Text] [Related]

  • 8. Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
    Naddafnia H, Noormohammadi Z, Irani S, Salahshoorifar I.
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00780. PubMed ID: 31162818
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  • 11. [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city].
    Yuan Y, Huang D, Dai P, Zhu X, Yu F, Zhang X, Liu L, Han D.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2008 Jan; 22(1):14-7, 21. PubMed ID: 18338563
    [Abstract] [Full Text] [Related]

  • 12. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
    Cama E, Melchionda S, Palladino T, Carella M, Santarelli R, Genovese E, Benettazzo F, Zelante L, Arslan E.
    Int J Audiol; 2009 Jan; 48(1):12-7. PubMed ID: 19173109
    [Abstract] [Full Text] [Related]

  • 13. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
    Loeza-Becerra F, Rivera-Vega Mdel R, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P, Cuevas-Covarrubias S.
    Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1057-60. PubMed ID: 24774219
    [Abstract] [Full Text] [Related]

  • 14. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
    Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.
    Hum Mutat; 2001 Nov; 18(5):460. PubMed ID: 11668644
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
    Frei K, Ramsebner R, Lucas T, Hamader G, Szuhai K, Weipoltshammer K, Baumgartner WD, Wachtler FJ, Kirschhofer K.
    Laryngoscope; 2005 Mar 24; 115(3):461-5. PubMed ID: 15744158
    [Abstract] [Full Text] [Related]

  • 17. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
    Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Dettogni RS, Tovar TT, Rabbi-Bortolini E, Louro ID.
    Mol Biol Rep; 2011 Feb 24; 38(2):1309-13. PubMed ID: 20563649
    [Abstract] [Full Text] [Related]

  • 18. [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]

  • 19. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
    Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S.
    Hear Res; 2005 Dec 20; 210(1-2):80-4. PubMed ID: 16243461
    [Abstract] [Full Text] [Related]

  • 20. First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
    Al-Achkar W, Al-Halabi B, Ali B, Moassass F.
    Int J Pediatr Otorhinolaryngol; 2017 Jan 20; 92():82-87. PubMed ID: 28012540
    [Abstract] [Full Text] [Related]

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