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Journal Abstract Search

255 related items for PubMed ID: 16168495

  • 1. Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.
    Iliadou V, Van Den Bogaert K, Eleftheriades N, Aperis G, Vanderstraeten K, Fransen E, Thys M, Grigoriadou M, Pampanos A, Economides J, Iliades T, Van Camp G, Petersen MB.
    Int J Pediatr Otorhinolaryngol; 2006 Apr; 70(4):631-7. PubMed ID: 16168495
    [Abstract] [Full Text] [Related]

  • 2. Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.
    Emery SB, Meyer A, Miller L, Lesperance MM.
    Otol Neurotol; 2009 Dec; 30(8):1204-8. PubMed ID: 19471170
    [Abstract] [Full Text] [Related]

  • 3. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
    Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G.
    Eur J Hum Genet; 2007 Mar; 15(3):362-8. PubMed ID: 17213839
    [Abstract] [Full Text] [Related]

  • 4. [Audiologic analysis of a family with nonsyndromic genetic progressive sensorineural hearing loss].
    Ni D, Dan H, Mo J.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 1999 Apr; 34(2):77-80. PubMed ID: 12764852
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  • 5. A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss.
    Govaerts PJ, De Ceulaer G, Daemers K, Verhoeven K, Van Camp G, Schatteman I, Verstreken M, Willems PJ, Somers T, Offeciers FE.
    Am J Otol; 1998 Nov; 19(6):718-23. PubMed ID: 9831143
    [Abstract] [Full Text] [Related]

  • 6. Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.
    Mangino M, Flex E, Capon F, Sangiuolo F, Carraro E, Gualandi F, Mazzoli M, Martini A, Novelli G, Dallapiccola B.
    Eur J Hum Genet; 2001 Sep; 9(9):667-71. PubMed ID: 11571554
    [Abstract] [Full Text] [Related]

  • 7. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.
    Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD.
    Hum Mutat; 1999 Sep; 14(6):493-501. PubMed ID: 10571947
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  • 10. A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.
    Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F.
    Hum Genet; 2003 Jan; 112(1):24-8. PubMed ID: 12483295
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  • 11. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
    Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW.
    Arch Otolaryngol Head Neck Surg; 2004 Mar; 130(3):281-8. PubMed ID: 15023833
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  • 13. Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
    Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C.
    Neurology; 2008 Feb 26; 70(9):686-94. PubMed ID: 18032746
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  • 15. Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
    Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H.
    Eur J Hum Genet; 2003 Feb 26; 11(2):185-8. PubMed ID: 12634867
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  • 16. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
    Xia XY, Cui YX, Huang YF, Pan LJ, Yang B, Wang HY, Li XJ, Shi YC, Lu HY, Zhou YC.
    Clin Chim Acta; 2008 Dec 26; 398(1-2):148-51. PubMed ID: 18755172
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  • 17. [Genetic and audiological characters of a Chinese family with non-syndromic hereditary hearing loss].
    Jin Z, Cheng J, Lu Y, Li J, Sun Y, Yuan H, Han D.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2011 Feb 26; 25(4):158-61. PubMed ID: 21563462
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  • 18. A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family.
    Wang QJ, Li QZ, Rao SQ, Zhao YL, Yuan H, Yang WY, Han DY, Shen Y.
    Laryngoscope; 2006 Jun 26; 116(6):944-50. PubMed ID: 16735904
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  • 19. Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.
    Ye X, Shi L, Yin W, Meng L, Wang QK, Bian Z.
    J Clin Periodontol; 2009 Aug 26; 36(8):627-33. PubMed ID: 19552635
    [Abstract] [Full Text] [Related]

  • 20. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
    Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ.
    J Med Genet; 2002 Jul 26; 39(7):473-7. PubMed ID: 12114476
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