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Journal Abstract Search

114 related items for PubMed ID: 1923319

  • 1. Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site.
    Keith CG, Denton MJ, Chen JD.
    Ophthalmic Paediatr Genet; 1991 Jun; 12(2):91-8. PubMed ID: 1923319
    [Abstract] [Full Text] [Related]

  • 2. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
    Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A.
    Am J Hum Genet; 1998 Nov; 63(5):1439-47. PubMed ID: 9792872
    [Abstract] [Full Text] [Related]

  • 3. A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.
    Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, Segal M, Devoto M, Bruns G, Wright AF, Ott J, Sieving PA, Swaroop A.
    Am J Hum Genet; 1996 Jul; 59(1):152-8. PubMed ID: 8659520
    [Abstract] [Full Text] [Related]

  • 4. Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
    Flaxel CJ, Jay M, Thiselton DL, Nayudu M, Hardcastle AJ, Wright A, Bird AC.
    Br J Ophthalmol; 1999 Oct; 83(10):1144-8. PubMed ID: 10502575
    [Abstract] [Full Text] [Related]

  • 5. A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities.
    van Dorp DB, Wright AF, Carothers AD, Bleeker-Wagemakers EM.
    Hum Genet; 1992 Jan; 88(3):331-4. PubMed ID: 1733835
    [Abstract] [Full Text] [Related]

  • 6. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
    Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 1997 Dec; 38(13):2750-5. PubMed ID: 9418727
    [Abstract] [Full Text] [Related]

  • 7. Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3.
    Seymour AB, Dash-Modi A, O'Connell JR, Shaffer-Gordon M, Mah TS, Stefko ST, Nagaraja R, Brown J, Kimura AE, Ferrell RE, Gorin MB.
    Am J Hum Genet; 1998 Jan; 62(1):122-9. PubMed ID: 9443860
    [Abstract] [Full Text] [Related]

  • 8. Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype-genotype correlation.
    Capeans C, Blanco MJ, Lareu MV, Barros F, Piñeiro A, Sanchez-Salorio M, Carracedo A.
    Clin Genet; 1998 Jul; 54(1):26-32. PubMed ID: 9727736
    [Abstract] [Full Text] [Related]

  • 9. Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.
    Musarella MA, Burghes A, Anson-Cartwright L, Mahtani MM, Argonza R, Tsui LC, Worton R.
    Am J Hum Genet; 1988 Oct; 43(4):484-94. PubMed ID: 2902787
    [Abstract] [Full Text] [Related]

  • 10. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).
    Hong HK, Ferrell RE, Gorin MB.
    Am J Hum Genet; 1994 Dec; 55(6):1173-81. PubMed ID: 7977377
    [Abstract] [Full Text] [Related]

  • 11. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 12. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
    Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A.
    Ophthalmic Genet; 1998 Dec; 19(4):187-96. PubMed ID: 9895243
    [Abstract] [Full Text] [Related]

  • 13. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
    Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Genet; 1999 Dec; 105(1-2):57-62. PubMed ID: 10480356
    [Abstract] [Full Text] [Related]

  • 14. Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
    Wright AF, Bhattacharya SS, Clayton JF, Dempster M, Tippett P, McKeown CM, Jay M, Jay B, Bird AC.
    Am J Hum Genet; 1987 Oct; 41(4):635-44. PubMed ID: 3477957
    [Abstract] [Full Text] [Related]

  • 15. A new genetic locus for X linked progressive cone-rod dystrophy.
    Jalkanen R, Demirci FY, Tyynismaa H, Bech-Hansen T, Meindl A, Peippo M, Mäntyjärvi M, Gorin MB, Alitalo T.
    J Med Genet; 2003 Jun; 40(6):418-23. PubMed ID: 12807962
    [Abstract] [Full Text] [Related]

  • 16. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).
    Zeiss CJ, Ray K, Acland GM, Aguirre GD.
    Hum Mol Genet; 2000 Mar 01; 9(4):531-7. PubMed ID: 10699176
    [Abstract] [Full Text] [Related]

  • 17. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.
    Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ.
    Am J Hum Genet; 1994 Jul 01; 55(1):105-11. PubMed ID: 8023838
    [Abstract] [Full Text] [Related]

  • 18. Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.
    Coleman M, Bhattacharya S, Lindsay S, Wright A, Jay M, Litt M, Craig I, Davies K.
    Am J Hum Genet; 1990 Dec 01; 47(6):935-40. PubMed ID: 2239970
    [Abstract] [Full Text] [Related]

  • 19. Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
    Wright AF, Bhattacharya SS, Aldred MA, Jay M, Carothers AD, Thomas NS, Bird AC, Jay B, Evans HJ.
    J Med Genet; 1991 Jul 01; 28(7):453-7. PubMed ID: 1895315
    [Abstract] [Full Text] [Related]

  • 20. Rod-cone dystrophy of the retina. Continuation of a family study described in 1923.
    Forsius H, Erkkilä H, Eriksson AW.
    Acta Ophthalmol (Copenh); 1990 Feb 01; 68(1):2-10. PubMed ID: 2336929
    [Abstract] [Full Text] [Related]

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