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290 related items for PubMed ID: 12123547

  • 1. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.
    Chin Med J (Engl); 2002 Jun; 115(6):833-6. PubMed ID: 12123547
    [Abstract] [Full Text] [Related]

  • 2. X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
    Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2712-21. PubMed ID: 10937588
    [Abstract] [Full Text] [Related]

  • 3. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
    Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.
    Hum Mutat; 1999 Aug; 13(2):141-5. PubMed ID: 10094550
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
    Guevara-Fujita M, Fahrner S, Buraczynska K, Cook J, Wheaton D, Cortes F, Vicencio C, Pena M, Fishman G, Mintz-Hittner H, Birch D, Hoffman D, Mears A, Fujita R, Swaroop A.
    Hum Mutat; 2001 Feb 01; 17(2):151. PubMed ID: 11180598
    [Abstract] [Full Text] [Related]

  • 6. Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
    Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A.
    Hum Mutat; 1998 Feb 01; 12(3):212-3. PubMed ID: 10651485
    [Abstract] [Full Text] [Related]

  • 7. Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
    Vervoort R, Wright AF.
    Hum Mutat; 2002 May 01; 19(5):486-500. PubMed ID: 11968081
    [Abstract] [Full Text] [Related]

  • 8. Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Jin L, Liu M, Wei Y, Wu X, Liu Y, Wang H, Chu R, Chai J.
    Hum Mutat; 2000 Jun 01; 15(6):584. PubMed ID: 10862103
    [No Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 01; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 47(9):3777-82. PubMed ID: 16936086
    [Abstract] [Full Text] [Related]

  • 12. [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families].
    Liu L, Wei Y, Chen H.
    Zhonghua Yi Xue Za Zhi; 2001 Jan 25; 81(2):71-2. PubMed ID: 11798852
    [Abstract] [Full Text] [Related]

  • 13. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
    Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W.
    Hum Genet; 2001 Sep 25; 109(3):271-8. PubMed ID: 11702207
    [Abstract] [Full Text] [Related]

  • 14. Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
    Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls TJ, Andréasson S, Swaroop A.
    Invest Ophthalmol Vis Sci; 1998 Nov 25; 39(12):2470-4. PubMed ID: 9804156
    [Abstract] [Full Text] [Related]

  • 15. [Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families].
    Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.
    Klin Oczna; 2004 Nov 25; 106(6):743-8. PubMed ID: 15787173
    [Abstract] [Full Text] [Related]

  • 16. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
    Miano MG, Testa F, Filippini F, Trujillo M, Conte I, Lanzara C, Millán JM, De Bernardo C, Grammatico B, Mangino M, Torrente I, Carrozzo R, Simonelli F, Rinaldi E, Ventruto V, D'Urso M, Ayuso C, Ciccodicola A.
    Hum Mutat; 2001 Aug 25; 18(2):109-19. PubMed ID: 11462235
    [Abstract] [Full Text] [Related]

  • 17. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
    Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S, Gonzàlez-Duarte R.
    Invest Ophthalmol Vis Sci; 2000 Mar 25; 41(3):656-9. PubMed ID: 10711677
    [Abstract] [Full Text] [Related]

  • 18. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
    Morimura H, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1999 Apr 25; 40(5):1000-4. PubMed ID: 10102299
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 44(4):1458-63. PubMed ID: 12657579
    [Abstract] [Full Text] [Related]

  • 20. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
    [Abstract] [Full Text] [Related]

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