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Journal Abstract Search

185 related items for PubMed ID: 9500541

  • 21. A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss.
    Hiyoshi M, Yamane H.
    Acta Otolaryngol Suppl; 2004 Oct; (554):45-6. PubMed ID: 15513511
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  • 23. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
    Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B.
    Nat Genet; 2000 Sep; 26(1):56-60. PubMed ID: 10973248
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  • 24. Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
    Arellano B, Pera A, Ramírez-Camacho R, Villamar M, Trinidad A, García JR, Moreno F, Hernández-Chico C.
    Clin Genet; 2005 May; 67(5):438-40. PubMed ID: 15811013
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  • 25. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
    Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP.
    Nat Genet; 1999 Jan; 21(1):84-90. PubMed ID: 9916796
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  • 26. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).
    McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ.
    Nat Genet; 1999 Dec; 23(4):413-9. PubMed ID: 10581026
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  • 28. [Family history, clinical features, and molecular characterization of a patient with autosomal recessive non-syndromic hearing loss].
    Düzcan F, Wollnik B, Tepeli E, Ardiç FN, Uyguner O, Bağci H.
    Kulak Burun Bogaz Ihtis Derg; 2003 Sep; 11(3):85-8. PubMed ID: 14699249
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  • 29. The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.
    Wilcox ER, Everett LA, Li XC, Lalwani AK, Green ED.
    Adv Otorhinolaryngol; 2000 Sep; 56():145-51. PubMed ID: 10868226
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  • 30. Long-term audiological feature in Pendred syndrome caused by PDS mutation.
    Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T.
    Arch Otolaryngol Head Neck Surg; 2001 Jun; 127(6):705-8. PubMed ID: 11405873
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  • 39. Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.
    Coucke PJ, Van Hauwe P, Everett LA, Demirhan O, Kabakkaya Y, Dietrich NL, Smith RJ, Coyle E, Reardon W, Trembath R, Willems PJ, Green ED, Van Camp G.
    J Med Genet; 1999 Jun; 36(6):475-7. PubMed ID: 10874637
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