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Journal Abstract Search

314 related items for PubMed ID: 28418495

  • 1. Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
    Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2207-2217. PubMed ID: 28418495
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
    Yasmeen A, Riazuddin SA, Kaul H, Mohsin S, Khan M, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S.
    Mol Vis; 2010 Apr 15; 16():682-8. PubMed ID: 20405025
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  • 3. Mutations in FYCO1 identified in families with congenital cataracts.
    Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2020 Apr 15; 26():334-344. PubMed ID: 32355443
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  • 4. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
    Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2218-2238. PubMed ID: 28418496
    [Abstract] [Full Text] [Related]

  • 5. Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
    Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF.
    Am J Hum Genet; 2011 Jun 10; 88(6):827-838. PubMed ID: 21636066
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  • 6. Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.
    Forshew T, Johnson CA, Khaliq S, Pasha S, Willis C, Abbasi R, Tee L, Smith U, Trembath RC, Mehdi SQ, Moore AT, Maher ER.
    Hum Genet; 2005 Sep 10; 117(5):452-9. PubMed ID: 15959809
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  • 8. Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
    Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jun 10; 46(6):2100-6. PubMed ID: 15914629
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  • 10. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
    Jiao X, Kabir F, Irum B, Khan AO, Wang Q, Li D, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA.
    PLoS One; 2016 Jun 10; 11(6):e0157005. PubMed ID: 27326458
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  • 11. A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
    Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J.
    BMC Med Genet; 2008 Nov 11; 9():99. PubMed ID: 19014451
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  • 12. Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings.
    Chacon-Camacho OF, Buentello-Volante B, Velázquez-Montoya R, Ayala-Ramirez R, Zenteno JC.
    Gene; 2014 Jan 25; 534(2):218-21. PubMed ID: 24211322
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  • 14. Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.
    Jiao X, Khan SY, Kaul H, Butt T, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA.
    PLoS One; 2019 Jan 25; 14(12):e0225010. PubMed ID: 31815953
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  • 16. Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
    Ahmed I, Rafiq MA, Vincent JB, Bhatti A, Ayub M, John P.
    Acta Neuropsychiatr; 2015 Feb 25; 27(1):38-47. PubMed ID: 25434728
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