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357 related items for PubMed ID: 31775781

  • 1. 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]

  • 2. 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]

  • 3. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.
    Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403
    [Abstract] [Full Text] [Related]

  • 4. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes.
    Andréasson S, Breuer DK, Eksandh L, Ponjavic V, Frennesson C, Hiriyanna S, Filippova E, Yashar BM, Swaroop A.
    Ophthalmic Genet; 2003 Dec 06; 24(4):215-23. PubMed ID: 14566651
    [Abstract] [Full Text] [Related]

  • 5. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
    Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E.
    Sci Rep; 2016 Dec 20; 6():39179. PubMed ID: 27995965
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
    Parmeggiani F, Barbaro V, Migliorati A, Raffa P, Nespeca P, De Nadai K, Del Vecchio C, Palù G, Parolin C, Di Iorio E.
    Eur J Ophthalmol; 2017 Mar 10; 27(2):240-248. PubMed ID: 27768226
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 44(4):1458-63. PubMed ID: 12657579
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Sanchez Tocino H, Diez Montero C, Villanueva Gómez A, Lobo Valentin R, Montero-Moreno JA.
    Ophthalmic Genet; 2019 Apr 10; 40(2):170-176. PubMed ID: 31033374
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
    Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.
    Mol Vis; 2010 Aug 15; 16():1620-8. PubMed ID: 20806050
    [Abstract] [Full Text] [Related]

  • 11. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.
    Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.
    Mol Vis; 2007 Aug 30; 13():1548-54. PubMed ID: 17893654
    [Abstract] [Full Text] [Related]

  • 12. 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 30; 125(10):1407-12. PubMed ID: 17923551
    [Abstract] [Full Text] [Related]

  • 13. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2013 Feb 19; 54(2):1411-6. PubMed ID: 23372056
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. 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 01; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 17. Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.
    Yang L, Yin X, Feng L, You D, Wu L, Chen N, Li A, Li G, Ma Z.
    PLoS One; 2014 Dec 01; 9(1):e85752. PubMed ID: 24454928
    [Abstract] [Full Text] [Related]

  • 18. Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
    Ji Y, Wang J, Xiao X, Li S, Guo X, Zhang Q.
    Curr Eye Res; 2010 Jan 01; 35(1):73-9. PubMed ID: 20021257
    [Abstract] [Full Text] [Related]

  • 19. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
    Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.
    Am J Hum Genet; 2002 Jun 01; 70(6):1545-54. PubMed ID: 11992260
    [Abstract] [Full Text] [Related]

  • 20. [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
    Li ZL, Zhuang WJ, Zhao W, Zhang XF, Wang J, Meng RH, Rong WN, Sheng XL.
    Zhonghua Yan Ke Za Zhi; 2011 Jun 01; 47(6):516-20. PubMed ID: 21914266
    [Abstract] [Full Text] [Related]

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