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Journal Abstract Search

308 related items for PubMed ID: 24520187

  • 1. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
    Zobor D, Balousha G, Baumann B, Wissinger B.
    Mol Vis; 2014; 20():178-82. PubMed ID: 24520187
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  • 2. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
    Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D.
    Am J Hum Genet; 2010 Sep 10; 87(3):382-91. PubMed ID: 20705279
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  • 3. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct 10; 60(10):625-30. PubMed ID: 26246154
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  • 4. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
    Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.
    Am J Hum Genet; 2010 Sep 10; 87(3):376-81. PubMed ID: 20705278
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  • 5. 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 Sep 10; 19():829-34. PubMed ID: 23592920
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  • 7. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
    Pach J, Kohl S, Gekeler F, Zobor D.
    Mol Vis; 2013 Sep 10; 19():1350-5. PubMed ID: 23805042
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  • 8. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
    Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI.
    Invest Ophthalmol Vis Sci; 2015 Nov 10; 56(12):7418-26. PubMed ID: 26574802
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  • 10. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.
    Mol Vis; 2011 Nov 10; 17():3013-24. PubMed ID: 22128245
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  • 16. Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
    Beryozkin A, Khateb S, Idrobo-Robalino CA, Khan MI, Cremers FPM, Obolensky A, Hanany M, Mezer E, Chowers I, Newman H, Ben-Yosef T, Sharon D, Banin E.
    Sci Rep; 2020 Sep 16; 10(1):15156. PubMed ID: 32938956
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  • 17. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Sep 16; 10(7):e0131679. PubMed ID: 26147992
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