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Journal Abstract Search

228 related items for PubMed ID: 19339744

  • 1. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
    Singh HP, Jalali S, Narayanan R, Kannabiran C.
    Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4065-71. PubMed ID: 19339744
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  • 8. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
    Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R.
    Mol Vis; 2009 Dec 03; 15():2526-34. PubMed ID: 19960070
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  • 10. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B.
    Mol Med Rep; 2019 Sep 03; 20(3):2922-2928. PubMed ID: 31322236
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  • 11. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 03; 46(7):2264-70. PubMed ID: 15980210
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  • 12. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
    Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF.
    Mol Vis; 2013 Jul 03; 19():829-34. PubMed ID: 23592920
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  • 13. 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 Jul 03; 22():797-815. PubMed ID: 27440997
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  • 14. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
    Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S.
    Arch Ophthalmol; 2011 Oct 03; 129(10):1351-7. PubMed ID: 21987678
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  • 15. Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
    Rose AM, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore AT, Black G, Bhattacharya SS, Webster AR.
    Eye (Lond); 2015 Sep 03; 29(9):1226-32. PubMed ID: 26113502
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  • 17. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.
    Mol Vis; 2011 Sep 03; 17():1537-52. PubMed ID: 21686329
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  • 19. Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa.
    Lalitha K, Jalali S, Kadakia T, Kannabiran C.
    J Genet; 2002 Aug 03; 81(2):59-63. PubMed ID: 12532037
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