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Journal Abstract Search

114 related items for PubMed ID: 1923319

  • 21. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

  • 22. Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
    Aldred MA, Teague PW, Jay M, Bundey S, Redmond RM, Jay B, Bird AC, Bhattacharya SS, Wright AF.
    J Med Genet; 1994 Nov; 31(11):848-52. PubMed ID: 7853368
    [Abstract] [Full Text] [Related]

  • 23. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis.
    Musarella MA, Anson-Cartwright CL, McDowell C, Burghes AH, Coulson SE, Worton RG, Rommens JM.
    Genomics; 1991 Oct; 11(2):263-72. PubMed ID: 1769646
    [Abstract] [Full Text] [Related]

  • 24. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 25. Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis. Problems due to genetic heterogeneity.
    Bergen AA, Platje EJ, Craig I, Bakker E, Bleeker-Wagemakers EM, van Ommen GJ.
    Ophthalmic Paediatr Genet; 1991 Jun; 12(2):99-103. PubMed ID: 1923320
    [Abstract] [Full Text] [Related]

  • 26. Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.
    Mears AJ, Hiriyanna S, Vervoort R, Yashar B, Gieser L, Fahrner S, Daiger SP, Heckenlively JR, Sieving PA, Wright AF, Swaroop A.
    Am J Hum Genet; 2000 Oct; 67(4):1000-3. PubMed ID: 10970770
    [Abstract] [Full Text] [Related]

  • 27. Genetic mapping of loci for X-linked retinitis pigmentosa.
    Dahl N, Sundvall M, Pettersson U, Andréasson S, Anvret M, Kugelberg U, Hagbyhn-Gericke A, Goonewardena P.
    Clin Genet; 1991 Dec; 40(6):435-40. PubMed ID: 1685699
    [Abstract] [Full Text] [Related]

  • 28. Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.
    van den Born LI, van Soest S, van Schooneveld MJ, Riemslag FC, de Jong PT, Bleeker-Wagemakers EM.
    Am J Ophthalmol; 1994 Oct 15; 118(4):430-9. PubMed ID: 7943119
    [Abstract] [Full Text] [Related]

  • 29. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.
    Nussbaum RL, Lewis RA, Lesko JG, Ferrell R.
    Hum Genet; 1985 Oct 15; 70(1):45-50. PubMed ID: 3858218
    [Abstract] [Full Text] [Related]

  • 30. Two different genes for X-linked retinitis pigmentosa.
    Wirth B, Denton MJ, Chen JD, Neugebauer M, Halliday FB, van Schooneveld M, Donald J, Bleeker-Wagemakers EM, Pearson PL, Gal A.
    Genomics; 1988 Apr 15; 2(3):263-6. PubMed ID: 3397063
    [Abstract] [Full Text] [Related]

  • 31. Carrier detection in X-linked retinitis pigmentosa.
    Gurvitz A, Leigh DA, Halliday F, Lai LY, McDonald BL.
    Aust N Z J Ophthalmol; 1994 May 15; 22(2):111-3. PubMed ID: 7917263
    [Abstract] [Full Text] [Related]

  • 32. X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11.
    McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP.
    Am J Hum Genet; 1995 Jul 15; 57(1):87-94. PubMed ID: 7611300
    [Abstract] [Full Text] [Related]

  • 33. [Gene diagnosis of X linked retinitis pigmentosa by linkage analysis].
    Liu M, Wei Y, Liu L.
    Zhonghua Yi Xue Za Zhi; 1999 Jan 15; 79(1):54-6. PubMed ID: 11601008
    [Abstract] [Full Text] [Related]

  • 34. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype.
    Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G.
    Invest Ophthalmol Vis Sci; 1992 Dec 15; 33(13):3481-92. PubMed ID: 1464493
    [Abstract] [Full Text] [Related]

  • 35. Fenestrated sheen macular dystrophy.
    Sneed SR, Sieving PA.
    Am J Ophthalmol; 1991 Jul 15; 112(1):1-7. PubMed ID: 1882912
    [Abstract] [Full Text] [Related]

  • 36. Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.
    De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G.
    Mutat Res; 2001 Jan 15; 432(3-4):79-82. PubMed ID: 11465545
    [Abstract] [Full Text] [Related]

  • 37. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
    Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N.
    Hum Mol Genet; 1995 May 15; 4(5):931-5. PubMed ID: 7633454
    [Abstract] [Full Text] [Related]

  • 38. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.
    Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM.
    Arch Ophthalmol; 1997 Nov 15; 115(11):1429-35. PubMed ID: 9366675
    [Abstract] [Full Text] [Related]

  • 39. A polymorphic trinucleotide repeat at DXS8170 in the critical region of X-linked retinitis pigmentosa locus RP3 at Xp21.1.
    Fujita R, Blumberg M, Anderson D, Forsythe P, McHenry C, Yan D, Yang-Feng TL, Sieving PA, Swaroop A.
    Mol Vis; 1995 Dec 05; 1():3. PubMed ID: 9238081
    [No Abstract] [Full Text] [Related]

  • 40. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.
    Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J.
    Genomics; 1990 Oct 05; 8(2):286-96. PubMed ID: 1979051
    [Abstract] [Full Text] [Related]

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