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Journal Abstract Search

439 related items for PubMed ID: 12483295

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
    Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K.
    J Hum Genet; 2002 Jan; 47(12):635-40. PubMed ID: 12522684
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
    Bönsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T.
    Eur J Hum Genet; 2001 Mar; 9(3):165-70. PubMed ID: 11313754
    [Abstract] [Full Text] [Related]

  • 5. Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.
    Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):271-5. PubMed ID: 17166180
    [Abstract] [Full Text] [Related]

  • 6. A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.
    Snoeckx RL, Kremer H, Ensink RJ, Flothmann K, de Brouwer A, Smith RJ, Cremers CW, Van Camp G.
    J Med Genet; 2004 Jan; 41(1):11-3. PubMed ID: 14729819
    [Abstract] [Full Text] [Related]

  • 7. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.
    Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ.
    Genomics; 1997 Apr 01; 41(1):70-4. PubMed ID: 9126484
    [Abstract] [Full Text] [Related]

  • 8. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M, Hendrickson J, Lyon J, Toomes C, McHale JC, Fishman GA, Inglehearn CF, Jacobson SG, Farber DB.
    Invest Ophthalmol Vis Sci; 2001 Oct 01; 42(11):2458-65. PubMed ID: 11581183
    [Abstract] [Full Text] [Related]

  • 9. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
    Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY.
    Invest Ophthalmol Vis Sci; 2002 Aug 01; 43(8):2540-5. PubMed ID: 12147582
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 19(6):718-23. PubMed ID: 9831143
    [Abstract] [Full Text] [Related]

  • 11. Further evidence for a third deafness gene within the DFNA2 locus.
    Goldstein JA, Lalwani AK.
    Am J Med Genet; 2002 Apr 01; 108(4):304-9. PubMed ID: 11920835
    [Abstract] [Full Text] [Related]

  • 12. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
    Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N.
    Eur J Hum Genet; 2000 Jul 01; 8(7):535-9. PubMed ID: 10909854
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.
    Schüle R, Bonin M, Dürr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L.
    Neurology; 2009 Jun 02; 72(22):1893-8. PubMed ID: 19357379
    [Abstract] [Full Text] [Related]

  • 14. 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 Jun 02; 14(6):493-501. PubMed ID: 10571947
    [Abstract] [Full Text] [Related]

  • 15. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
    Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO, Lam DS, Raymond V, Ritch R.
    Mol Vis; 2006 Feb 14; 12():85-92. PubMed ID: 16518310
    [Abstract] [Full Text] [Related]

  • 16. Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.
    Greinwald JH, Wayne S, Chen AH, Scott DA, Zbar RI, Kraft ML, Prasad S, Ramesh A, Coucke P, Srisailapathy CR, Lovett M, Van Camp G, Smith RJ.
    Am J Med Genet; 1998 Jun 30; 78(2):107-13. PubMed ID: 9674898
    [Abstract] [Full Text] [Related]

  • 17. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
    Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.
    Nat Genet; 1996 Apr 30; 12(4):421-3. PubMed ID: 8630497
    [Abstract] [Full Text] [Related]

  • 18. The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes.
    McKay JD, Patterson B, Craig JE, Russell-Eggitt IM, Wirth MG, Burdon KP, Hewitt AW, Cohn AC, Kerdraon Y, Mackey DA.
    Br J Ophthalmol; 2005 Jul 30; 89(7):831-4. PubMed ID: 15965161
    [Abstract] [Full Text] [Related]

  • 19. 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 30; 11(2):185-8. PubMed ID: 12634867
    [Abstract] [Full Text] [Related]

  • 20. A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
    Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.
    Hum Genet; 2002 Apr 30; 110(4):348-50. PubMed ID: 11941484
    [Abstract] [Full Text] [Related]

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