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364 related items for PubMed ID: 16387007

  • 1. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy.
    Demirci FY, Rigatti BW, Mah TS, Gorin MB.
    Am J Ophthalmol; 2006 Jan; 141(1):208-10. PubMed ID: 16387007
    [Abstract] [Full Text] [Related]

  • 2. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
    Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.
    Am J Med Genet; 2001 Dec 01; 104(3):232-8. PubMed ID: 11754050
    [Abstract] [Full Text] [Related]

  • 3. RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.
    Ruddle JB, Ebenezer ND, Kearns LS, Mulhall LE, Mackey DA, Hardcastle AJ.
    Br J Ophthalmol; 2009 Sep 01; 93(9):1151-4. PubMed ID: 19429592
    [Abstract] [Full Text] [Related]

  • 4. Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
    Jin ZB, Gu F, Ma X, Nao-i N.
    Arch Ophthalmol; 2007 Oct 01; 125(10):1407-12. PubMed ID: 17923551
    [Abstract] [Full Text] [Related]

  • 5. Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.
    Gan DK, He CL, Shu HR, Hoffman MR, Jin ZB.
    Neurosci Lett; 2011 Aug 01; 500(1):16-9. PubMed ID: 21683121
    [Abstract] [Full Text] [Related]

  • 6. Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa.
    Pusch CM, Broghammer M, Jurklies B, Besch D, Jacobi FK.
    Hum Mutat; 2002 Nov 01; 20(5):405. PubMed ID: 12402343
    [Abstract] [Full Text] [Related]

  • 7. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug 01; 22(4):396-8. PubMed ID: 16086276
    [Abstract] [Full Text] [Related]

  • 8. Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
    Jin ZB, Liu XQ, Uchida A, Vervoort R, Morishita K, Hayakawa M, Murakami A, Matsumoto N, Niikawa N, Nao-i N.
    Mol Vis; 2005 Jul 19; 11():535-41. PubMed ID: 16052169
    [Abstract] [Full Text] [Related]

  • 9. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
    Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH.
    Exp Eye Res; 2002 Oct 19; 75(4):431-43. PubMed ID: 12387791
    [Abstract] [Full Text] [Related]

  • 10. X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
    Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.
    Invest Ophthalmol Vis Sci; 2003 Apr 19; 44(4):1458-63. PubMed ID: 12657579
    [Abstract] [Full Text] [Related]

  • 11. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.
    Arch Ophthalmol; 2008 Mar 19; 126(3):379-84. PubMed ID: 18332319
    [Abstract] [Full Text] [Related]

  • 12. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
    Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.
    Hum Mutat; 2007 Jan 19; 28(1):81-91. PubMed ID: 16969763
    [Abstract] [Full Text] [Related]

  • 13. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
    Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ.
    Invest Ophthalmol Vis Sci; 2005 Jun 19; 46(6):1891-8. PubMed ID: 15914600
    [Abstract] [Full Text] [Related]

  • 14. A frameshift mutation in RPGR exon ORF15 causes photoreceptor degeneration and inner retina remodeling in a model of X-linked retinitis pigmentosa.
    Beltran WA, Hammond P, Acland GM, Aguirre GD.
    Invest Ophthalmol Vis Sci; 2006 Apr 19; 47(4):1669-81. PubMed ID: 16565408
    [Abstract] [Full Text] [Related]

  • 15. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
    García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2006 Sep 19; 47(9):3777-82. PubMed ID: 16936086
    [Abstract] [Full Text] [Related]

  • 16. A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
    Prokisch H, Hartig M, Hellinger R, Meitinger T, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2007 Sep 19; 48(9):4012-8. PubMed ID: 17724181
    [Abstract] [Full Text] [Related]

  • 17. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Al-Maskari A, O'grady A, Pal B, McKibbin M.
    Eye (Lond); 2009 Mar 19; 23(3):519-21. PubMed ID: 19218993
    [Abstract] [Full Text] [Related]

  • 18. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
    Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.
    Mol Vis; 2008 Jun 06; 14():1081-93. PubMed ID: 18552978
    [Abstract] [Full Text] [Related]

  • 19. 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 06; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 20. Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.
    Demirci FY, Gupta N, Radak AL, Rigatti BW, Mah TS, Milam AH, Gorin MB.
    Am J Ophthalmol; 2005 Feb 06; 139(2):386-8. PubMed ID: 15734019
    [Abstract] [Full Text] [Related]

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