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Journal Abstract Search


206 related items for PubMed ID: 14727345

  • 21. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
    Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.
    Eur J Hum Genet; 2008 Aug; 16(8):888-96. PubMed ID: 18285825
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  • 22. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.
    Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N.
    Mol Genet Metab; 2004 Nov; 83(3):199-206. PubMed ID: 15542390
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  • 30. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
    Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W.
    Invest Ophthalmol Vis Sci; 2008 Sep; 49(9):4096-104. PubMed ID: 18487380
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  • 32. Pendred syndrome and iodide transport in the thyroid.
    Kopp P, Pesce L, Solis-S JC.
    Trends Endocrinol Metab; 2008 Sep; 19(7):260-8. PubMed ID: 18692402
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  • 34. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
    Dai P, Liu X, Han D, Qian Y, Huang D, Yuan H, Li W, Yu F, Zhang R, Lin H, He Y, Yu Y, Sun Q, Qin H, Li R, Zhang X, Kang D, Cao J, Young WY, Guan MX.
    Biochem Biophys Res Commun; 2006 Feb 03; 340(1):194-9. PubMed ID: 16375862
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  • 35. Mitochondrial deafness.
    Fischel-Ghodsian N.
    Ear Hear; 2003 Aug 03; 24(4):303-13. PubMed ID: 12923421
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