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Journal Abstract Search

933 related items for PubMed ID: 26321862

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  • 2. 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; 22():797-815. PubMed ID: 27440997
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  • 3. Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
    Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2016; 22():610-25. PubMed ID: 27307693
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  • 6. 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; 46(7):2264-70. PubMed ID: 15980210
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  • 7. Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
    Ali S, Riazuddin SA, Shahzadi A, Nasir IA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S.
    Mol Vis; 2011 Jul; 17():1373-80. PubMed ID: 21655355
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  • 8. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
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  • 9. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
    Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M.
    Mol Vis; 2015 Nov 17; 21():236-43. PubMed ID: 25802487
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  • 11. P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.
    Khan AA, Waryah YM, Iqbal M, Azhar Baig HM, Rafique M, Waryah AM.
    J Pak Med Assoc; 2021 Mar 17; 71(3):816-821. PubMed ID: 34057927
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  • 18. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
    Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.
    Am J Hum Genet; 2010 Aug 13; 87(2):258-64. PubMed ID: 20655036
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  • 20. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
    Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.
    Mol Vis; 2012 Aug 13; 18():1226-37. PubMed ID: 22665969
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