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Journal Abstract Search

351 related items for PubMed ID: 9545639

  • 1. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
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  • 2. Confirmation of linkage and refinement of the RP28 locus for autosomal recessive retinitis pigmentosa on chromosome 2p14-p15 in an Indian family.
    Kumar A, Shetty J, Kumar B, Blanton SH.
    Mol Vis; 2004 Jun 15; 10():399-402. PubMed ID: 15215745
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  • 3. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
    Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A.
    J Med Genet; 1999 Sep 15; 36(9):705-7. PubMed ID: 10507729
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  • 4. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 7. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 17; 46(7):2264-70. PubMed ID: 15980210
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  • 10. Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.
    Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G.
    Ann Hum Genet; 2008 Jul 17; 72(Pt 4):454-62. PubMed ID: 18510647
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  • 11. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul 17; 41(8):2080-6. PubMed ID: 10892847
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  • 14. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.
    Bonné-Tamir B, Korostishevsky M, Kalinsky H, Seroussi E, Beker R, Weiss S, Godel V.
    Genomics; 1994 Mar 01; 20(1):36-42. PubMed ID: 8020954
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  • 15. 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
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  • 16. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS.
    Invest Ophthalmol Vis Sci; 2007 May 01; 48(5):2208-13. PubMed ID: 17460281
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  • 17. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
    Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC.
    Nat Genet; 1993 Dec 01; 5(4):392-6. PubMed ID: 8298649
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  • 18. Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
    Fischer J, Blanchet-Bardon C, Prud'homme JF, Pavek S, Steijlen PM, Dubertret L, Weissenbach J.
    Eur J Hum Genet; 1997 Dec 01; 5(3):156-60. PubMed ID: 9272739
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  • 19. Homozygosity mapping to the USH2A locus in two isolated populations.
    Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha GK, Baumbach L, Brox V, Breines E, Holdø BE, Holdø A, Tranebjaerg L.
    J Med Genet; 1999 Feb 01; 36(2):144-7. PubMed ID: 10051015
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