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Journal Abstract Search

211 related items for PubMed ID: 21914266

  • 21. 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; 97(41):e12779. PubMed ID: 30313097
    [Abstract] [Full Text] [Related]

  • 22. A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa.
    Li Y, Dong B, Hu AL, Cui TT, Zheng YY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Aug; 22(4):396-8. PubMed ID: 16086276
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
    Walia S, Fishman GA, Swaroop A, Branham KE, Lindeman M, Othman M, Weleber RG.
    Arch Ophthalmol; 2008 Mar 01; 126(3):379-84. PubMed ID: 18332319
    [Abstract] [Full Text] [Related]

  • 25. Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa.
    Zhao K, Wang L, Wang L, Wang L, Zhang Q, Wang Q.
    Ophthalmic Genet; 2001 Sep 01; 22(3):187-94. PubMed ID: 11559860
    [Abstract] [Full Text] [Related]

  • 26. 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 01; 73(5):1131-46. PubMed ID: 14564670
    [Abstract] [Full Text] [Related]

  • 27. 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 Nov 01; 36(4):321-6. PubMed ID: 24555744
    [Abstract] [Full Text] [Related]

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  • 29. 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
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  • 31. 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 10; 249(10):1527-35. PubMed ID: 21866333
    [Abstract] [Full Text] [Related]

  • 32. [ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important].
    Ołdak M, Ruszkowska E, Siwiec S, Pollak A, Stawiński P, Szulborski K, Szaflik JP.
    Klin Oczna; 2016 Oct 10; 118(2):139-43. PubMed ID: 29912501
    [Abstract] [Full Text] [Related]

  • 33. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
    Kuruvilla SE, Song E, Raoof N, van Bysterveldt K, Oliver VF, Hong SC, Al-Taie R, Wilson G, Vincent AL.
    Clin Exp Ophthalmol; 2023 Oct 10; 51(4):300-312. PubMed ID: 36882936
    [Abstract] [Full Text] [Related]

  • 34. 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 Oct 10; 9(1):e85752. PubMed ID: 24454928
    [Abstract] [Full Text] [Related]

  • 35. A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.
    Fu J, Cheng J, Zhou Q, Wei C, Chen H, Lv H, Fu J.
    Biosci Rep; 2019 Oct 30; 39(10):. PubMed ID: 31652454
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  • 37. 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]

  • 38. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Al-Maskari A, O'grady A, Pal B, McKibbin M.
    Eye (Lond); 2009 Mar 30; 23(3):519-21. PubMed ID: 19218993
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
    Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP.
    PLoS One; 2011 Mar 26; 6(8):e23021. PubMed ID: 21857984
    [Abstract] [Full Text] [Related]

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