These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

838 related items for PubMed ID: 24428633

  • 1. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS, Kay CN.
    Ophthalmic Genet; 2015; 36(3):251-6. PubMed ID: 24428633
    [Abstract] [Full Text] [Related]

  • 2. 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; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 3. 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; 40(2):170-176. PubMed ID: 31033374
    [Abstract] [Full Text] [Related]

  • 4. 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; 36(4):321-6. PubMed ID: 24555744
    [Abstract] [Full Text] [Related]

  • 5. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.
    Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA.
    Am J Ophthalmol; 2003 Oct; 136(4):678-87. PubMed ID: 14516808
    [Abstract] [Full Text] [Related]

  • 6. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.
    Wegscheider E, Preising MN, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2004 Jun; 242(6):501-11. PubMed ID: 15173948
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
    Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 1995 Oct 01; 36(11):2186-92. PubMed ID: 7558711
    [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. Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
    Zito I, Thiselton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ.
    Hum Genet; 1999 Sep 01; 105(1-2):57-62. PubMed ID: 10480356
    [Abstract] [Full Text] [Related]

  • 12. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
    Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE.
    JAMA Ophthalmol; 2020 Nov 01; 138(11):1151-1158. PubMed ID: 32970112
    [Abstract] [Full Text] [Related]

  • 13. [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].
    Xi XH, Zheng D, Xia K, Pan Q, Lei LY, Liu Z, Tang CZ, Xia JH, Jiang DY, Deng HX.
    Zhonghua Yan Ke Za Zhi; 2005 Nov 01; 41(11):1020-6. PubMed ID: 16318756
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 97(41):e12779. PubMed ID: 30313097
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa.
    Pomares E, Riera M, Castro-Navarro J, Andrés-Gutiérrez A, Gonzàlez-Duarte R, Marfany G.
    Invest Ophthalmol Vis Sci; 2009 Nov 19; 50(11):5107-14. PubMed ID: 19516003
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 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 03; 44(3):295-303. PubMed ID: 36017691
    [Abstract] [Full Text] [Related]

  • 19. The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.
    Huang X, Liu Y, Yu X, Huang Q, Lin C, Zeng J, Lan F, Wang Z.
    J Assist Reprod Genet; 2019 May 03; 36(5):989-994. PubMed ID: 30887160
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 48(9):4012-8. PubMed ID: 17724181
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 42.