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Journal Abstract Search

968 related items for PubMed ID: 9855162

  • 61. Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
    Hardcastle AJ, Thiselton DL, Zito I, Ebenezer N, Mah TS, Gorin MB, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Jul; 41(8):2080-6. PubMed ID: 10892847
    [Abstract] [Full Text] [Related]

  • 62. 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; 44(3):295-303. PubMed ID: 36017691
    [Abstract] [Full Text] [Related]

  • 63. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
    Fahim AT, Sullivan LS, Bowne SJ, Jones KD, Wheaton DKH, Khan NW, Heckenlively JR, Jayasundera KT, Branham KH, Andrews CA, Othman MI, Karoukis AJ, Birch DG, Daiger SP.
    Ophthalmol Retina; 2020 May; 4(5):510-520. PubMed ID: 31953110
    [Abstract] [Full Text] [Related]

  • 64. Comparison of intraocular light scatter in carriers of choroideremia and X-linked retinitis pigmentosa.
    Grover S, Alexander KR, Fishman GA, Ryan J.
    Ophthalmology; 2002 Jan; 109(1):159-63. PubMed ID: 11772598
    [Abstract] [Full Text] [Related]

  • 65. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
    Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W.
    Hum Mol Genet; 1999 Aug; 8(8):1571-8. PubMed ID: 10401007
    [Abstract] [Full Text] [Related]

  • 66. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3).
    Zeiss CJ, Ray K, Acland GM, Aguirre GD.
    Hum Mol Genet; 2000 Mar 01; 9(4):531-7. PubMed ID: 10699176
    [Abstract] [Full Text] [Related]

  • 67. Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa.
    Vajaranant TS, Seiple W, Szlyk JP, Fishman GA.
    Ophthalmology; 2002 Mar 01; 109(3):560-8. PubMed ID: 11874762
    [Abstract] [Full Text] [Related]

  • 68. Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.
    Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P.
    Mol Vis; 2014 Mar 01; 20():1307-17. PubMed ID: 25352739
    [Abstract] [Full Text] [Related]

  • 69. X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
    Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y.
    Int J Mol Sci; 2019 Mar 26; 20(6):. PubMed ID: 30917587
    [Abstract] [Full Text] [Related]

  • 70. Clinical expression of X-linked retinitis pigmentosa in a Swedish family with the RP2 genotype.
    Ponjavic V, Andréasson S, Abrahamson M, Ehinger B, Gieser L, Fujita R, Swaroop A.
    Ophthalmic Genet; 1998 Dec 26; 19(4):187-96. PubMed ID: 9895243
    [Abstract] [Full Text] [Related]

  • 71. 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 26; 73(5):1131-46. PubMed ID: 14564670
    [Abstract] [Full Text] [Related]

  • 72. 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]

  • 73. A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
    Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M.
    Mol Vis; 2012 Aug 30; 18():1147-55. PubMed ID: 22605925
    [Abstract] [Full Text] [Related]

  • 74. 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 30; 198():108147. PubMed ID: 32702353
    [Abstract] [Full Text] [Related]

  • 75. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
    van Huet RA, Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ.
    Acta Ophthalmol; 2015 Feb 30; 93(1):83-94. PubMed ID: 25385675
    [Abstract] [Full Text] [Related]

  • 76. 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]

  • 77. 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]

  • 78. Clinical course of cone dystrophy caused by mutations in the RPGR gene.
    Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC.
    Graefes Arch Clin Exp Ophthalmol; 2011 Oct 20; 249(10):1527-35. PubMed ID: 21866333
    [Abstract] [Full Text] [Related]

  • 79. 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]

  • 80. Arrestin gene mutations in autosomal recessive retinitis pigmentosa.
    Nakazawa M, Wada Y, Tamai M.
    Arch Ophthalmol; 1998 Apr 01; 116(4):498-501. PubMed ID: 9565049
    [Abstract] [Full Text] [Related]

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