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Journal Abstract Search

215 related items for PubMed ID: 9399904

  • 21. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene.
    Andréasson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, Buraczynska M, Swaroop A.
    Am J Ophthalmol; 1997 Jul; 124(1):95-102. PubMed ID: 9222238
    [Abstract] [Full Text] [Related]

  • 22. 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; 47(9):3777-82. PubMed ID: 16936086
    [Abstract] [Full Text] [Related]

  • 23. 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 Sep; 13(2):141-5. PubMed ID: 10094550
    [Abstract] [Full Text] [Related]

  • 24. 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; 109(3):271-8. PubMed ID: 11702207
    [Abstract] [Full Text] [Related]

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  • 26. 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; 125(10):1407-12. PubMed ID: 17923551
    [Abstract] [Full Text] [Related]

  • 27. 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; 20(5):405. PubMed ID: 12402343
    [Abstract] [Full Text] [Related]

  • 28. 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 Nov; 12(3):212-3. PubMed ID: 10651485
    [Abstract] [Full Text] [Related]

  • 29. Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa.
    Zhang Z, Dai H, Wang L, Tao T, Xu J, Sun X, Yang L, Li G.
    BMC Ophthalmol; 2019 Nov 27; 19(1):240. PubMed ID: 31775781
    [Abstract] [Full Text] [Related]

  • 30. 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 27; 18(2):109-19. PubMed ID: 11462235
    [Abstract] [Full Text] [Related]

  • 31. 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 27; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 32. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
    Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD.
    Hum Mol Genet; 2002 May 01; 11(9):993-1003. PubMed ID: 11978759
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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]

  • 35. Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.
    Fischer MD, McClements ME, Martinez-Fernandez de la Camara C, Bellingrath JS, Dauletbekov D, Ramsden SC, Hickey DG, Barnard AR, MacLaren RE.
    Mol Ther; 2017 Aug 02; 25(8):1854-1865. PubMed ID: 28549772
    [Abstract] [Full Text] [Related]

  • 36. 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 02; 115(11):1429-35. PubMed ID: 9366675
    [Abstract] [Full Text] [Related]

  • 37. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
    Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W.
    Genet Mol Res; 2016 Jun 03; 15(2):. PubMed ID: 27323122
    [Abstract] [Full Text] [Related]

  • 38. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.
    Am J Hum Genet; 2003 Nov 03; 73(5):1131-46. PubMed ID: 14564670
    [Abstract] [Full Text] [Related]

  • 39. Novel mutations of the RPGR gene in RP3 families.
    Zito I, Gorin MB, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Mutat; 2000 Apr 03; 15(4):386. PubMed ID: 10737996
    [Abstract] [Full Text] [Related]

  • 40. Phenotype in two families with RP3 associated with RPGR mutations.
    Lorenz B, Andrassi M, Kretschmann U.
    Ophthalmic Genet; 2003 Jun 03; 24(2):89-101. PubMed ID: 12789573
    [Abstract] [Full Text] [Related]

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