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Journal Abstract Search

460 related items for PubMed ID: 9819448

  • 1. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
    Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB.
    N Engl J Med; 1998 Nov 19; 339(21):1500-5. PubMed ID: 9819448
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  • 3. Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.
    Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ.
    Mol Genet Metab; 2001 Jun 19; 73(2):160-3. PubMed ID: 11386851
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  • 5. Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
    Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ, Friedman TB.
    Am J Hum Genet; 2000 Sep 19; 67(3):745-9. PubMed ID: 10903123
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  • 6. Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
    Cohn ES, Kelley PM.
    Am J Med Genet; 1999 Sep 24; 89(3):130-6. PubMed ID: 10704187
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  • 7. 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 24; 30(1):1-7. PubMed ID: 19125024
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  • 8. 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 24; 5(4):295-303. PubMed ID: 12865758
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  • 10. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.
    Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M.
    Hum Genet; 2002 Mar 24; 110(3):284-9. PubMed ID: 11935342
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  • 11. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
    Talbi S, Bonnet C, Boudjenah F, Mansouri MT, Petit C, Ammar Khodja F.
    Int J Pediatr Otorhinolaryngol; 2019 Sep 24; 124():157-160. PubMed ID: 31200317
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  • 12. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
    Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.
    JAMA; 1999 Jun 16; 281(23):2211-6. PubMed ID: 10376574
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  • 13. Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.
    Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A.
    Ear Hear; 2006 Dec 16; 27(6):732-41. PubMed ID: 17086082
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  • 14. Connexin-26 mutations in sporadic and inherited sensorineural deafness.
    Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P.
    Lancet; 1998 Feb 07; 351(9100):394-8. PubMed ID: 9482292
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  • 15. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA, Xie DH.
    Chin Med J (Engl); 2004 Dec 07; 117(12):1797-801. PubMed ID: 15603707
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  • 17. The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
    Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR.
    Hum Genet; 2002 Oct 07; 111(4-5):394-7. PubMed ID: 12384781
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  • 18. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
    Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X.
    Hum Genet; 2000 Jan 07; 106(1):40-4. PubMed ID: 10982180
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