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Journal Abstract Search

481 related items for PubMed ID: 20806050

  • 1. 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]

  • 2. [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 15; 47(6):516-20. PubMed ID: 21914266
    [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. 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]

  • 5. 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]

  • 6. 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 30; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 7. A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa.
    Fishman GA, Grover S, Buraczynska M, Wu W, Swaroop A.
    Arch Ophthalmol; 1998 Feb 30; 116(2):213-8. PubMed ID: 9488274
    [Abstract] [Full Text] [Related]

  • 8. Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.
    Beigi F, Del Pozo-Valero M, Martin-Merida I, Manaviat MR, Ayuso C, Ghasemi N.
    Exp Eye Res; 2021 Oct 30; 211():108714. PubMed ID: 34390733
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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 27; 40(2):170-176. PubMed ID: 31033374
    [Abstract] [Full Text] [Related]

  • 12. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
    Tzu JH, Arguello T, Berrocal AM, Berrocal M, Weisman AD, Liu M, Hess D, Caputo M, Goldberg JL, Feuer WJ, Stone EM, Lam BL.
    Ophthalmic Genet; 2015 Apr 27; 36(4):321-6. PubMed ID: 24555744
    [Abstract] [Full Text] [Related]

  • 13. Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
    Zou X, Fang S, Wu S, Li H, Sun Z, Zhu T, Wei X, Sui R.
    Exp Eye Res; 2020 Sep 27; 198():108147. PubMed ID: 32702353
    [Abstract] [Full Text] [Related]

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  • 15. 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 27; 73(5):1131-46. PubMed ID: 14564670
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  • 17. 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 27; 125(10):1407-12. PubMed ID: 17923551
    [Abstract] [Full Text] [Related]

  • 18. Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature.
    Tran M, Kolesnikova M, Kim AH, Kowal T, Ning K, Mahajan VB, Tsang SH, Sun Y.
    Ophthalmic Genet; 2023 Jun 27; 44(3):295-303. PubMed ID: 36017691
    [Abstract] [Full Text] [Related]

  • 19. Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.
    Wang J, Zhou C, Xiao Y, Liu H.
    Medicine (Baltimore); 2018 Oct 27; 97(41):e12779. PubMed ID: 30313097
    [Abstract] [Full Text] [Related]

  • 20. 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]

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