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Journal Abstract Search

205 related items for PubMed ID: 12673573

  • 1. [Gene mapping of a nonsyndromic hearing impairmint family].
    Cheng L, Gong Y, Liu Q, Chen B, Guo C, Li J, Zhang X, Lu Y, Gao G, Zhou H, Guo Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Apr; 20(2):89-93. PubMed ID: 12673573
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
    Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C.
    Eur J Hum Genet; 2002 Mar; 10(3):210-2. PubMed ID: 11973626
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar; 47(12):635-40. PubMed ID: 12522684
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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 01; 12(4):421-3. PubMed ID: 8630497
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 71(Pt 2):271-5. PubMed ID: 17166180
    [Abstract] [Full Text] [Related]

  • 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 01; 112(1):24-8. PubMed ID: 12483295
    [Abstract] [Full Text] [Related]

  • 11. [Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus].
    Gong YQ, Li JX, Liu QJ, Chen BX, Guo CH, Gao GM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 01; 20(1):53-5. PubMed ID: 12579502
    [Abstract] [Full Text] [Related]

  • 12. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
    Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B.
    Hum Mutat; 2006 Jul 01; 27(7):633-9. PubMed ID: 16752389
    [Abstract] [Full Text] [Related]

  • 13. A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31.
    Pulleyn LJ, Jackson AP, Roberts E, Carridice A, Muxworthy C, Houseman M, Al-Gazali LI, Lench NJ, Markham AF, Mueller RF.
    Eur J Hum Genet; 2000 Dec 01; 8(12):991-3. PubMed ID: 11175289
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.
    Jain PK, Lalwani AK, Li XC, Singleton TL, Smith TN, Chen A, Deshmukh D, Verma IC, Smith RJ, Wilcox ER.
    Genomics; 1998 Jun 01; 50(2):290-2. PubMed ID: 9653658
    [Abstract] [Full Text] [Related]

  • 16. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.
    Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA.
    Genomics; 1999 Oct 01; 61(1):1-4. PubMed ID: 10512674
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 110(4):348-50. PubMed ID: 11941484
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment.
    Knight HM, Maclean A, Irfan M, Naeem F, Cass S, Pickard BS, Muir WJ, Blackwood DH, Ayub M.
    Eur J Hum Genet; 2008 Jun 01; 16(6):750-8. PubMed ID: 18322454
    [Abstract] [Full Text] [Related]

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