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Journal Abstract Search

132 related items for PubMed ID: 1424244

  • 61. Usher's syndrome, temporal bone pathology.
    Cremers CW, Delleman WJ.
    Int J Pediatr Otorhinolaryngol; 1988 Oct; 16(1):23-30. PubMed ID: 3203983
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  • 63. Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.
    Leutelt J, Oehlmann R, Younus F, van den Born LI, Weber JL, Denton MJ, Mehdi SQ, Gal A.
    Clin Genet; 1995 Mar; 47(3):122-4. PubMed ID: 7634534
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  • 64. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
    Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP.
    Nat Genet; 1992 Jun; 1(3):209-13. PubMed ID: 1303237
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  • 65. CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
    Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI.
    Ophthalmology; 2011 Jul; 118(7):1444-8. PubMed ID: 21310491
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  • 66. Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone-rod dystrophy.
    Ducroq D, Shalev S, Habib A, Munnich A, Kaplan J, Rozet JM.
    Eur J Hum Genet; 2006 Dec; 14(12):1269-73. PubMed ID: 16896346
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  • 68. Retinitis pigmentosa: problems associated with genetic classification.
    Haim M.
    Clin Genet; 1993 Aug; 44(2):62-70. PubMed ID: 8275561
    [Abstract] [Full Text] [Related]

  • 69. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
    Sultan N, Ali I, Bukhari SA, Baig SM, Asif M, Qasim M, Naseer MI, Rasool M.
    Genes Genomics; 2018 May; 40(5):553-559. PubMed ID: 29892959
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  • 71. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [Abstract] [Full Text] [Related]

  • 72. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2016 Oct; 22():797-815. PubMed ID: 27440997
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  • 75. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
    Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT.
    Invest Ophthalmol Vis Sci; 2016 Jul 01; 57(8):3601-9. PubMed ID: 27391550
    [Abstract] [Full Text] [Related]

  • 76. Prevalence of retinitis pigmentosa and allied disorders in Denmark. III. Hereditary pattern.
    Haim M.
    Acta Ophthalmol (Copenh); 1992 Oct 01; 70(5):615-24. PubMed ID: 1471485
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  • 77.
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  • 78. Progression of visual field loss in patients with retinitis pigmentosa of sporadic and autosomal recessive types.
    Akeo K, Saga M, Hiida Y, Oguchi Y, Okisaka S.
    Ophthalmic Res; 1998 Oct 01; 30(1):11-22. PubMed ID: 9483583
    [Abstract] [Full Text] [Related]

  • 79. Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa.
    Berson EL, Rosen JB, Simonoff EA.
    Am J Ophthalmol; 1979 Apr 01; 87(4):460-8. PubMed ID: 443310
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  • 80.
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