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Journal Abstract Search

100 related items for PubMed ID: 12532037

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  • 3. 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; 10(7):e0131679. PubMed ID: 26147992
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  • 4. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
    Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4433-9. PubMed ID: 15557452
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  • 7. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
    Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A.
    J Med Genet; 1999 Sep; 36(9):705-7. PubMed ID: 10507729
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  • 9. Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
    Valverde D, Vázquez-Gundín F, del Rio E, Calaf M, Fernández JL, Baiget M.
    Ophthalmic Genet; 1998 Dec; 19(4):197-202. PubMed ID: 9895244
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  • 11. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.
    Ruiz A, Borrego S, Marcos I, Antiñolo G.
    Am J Hum Genet; 1998 Jun; 62(6):1452-9. PubMed ID: 9585594
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  • 14. A new locus for autosomal recessive RP (RP29) mapping to chromosome 4q32-q34 in a Pakistani family.
    Hameed A, Khaliq S, Ismail M, Anwar K, Mehdi SQ, Bessant D, Payne AM, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1436-8. PubMed ID: 11381043
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  • 15. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2014 Feb 24; 55(2):1149-60. PubMed ID: 24474277
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  • 16. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.
    Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, van Schooneveld MJ, Heckenlively JR, Hoyng CB, den Hollander AI, Cremers FP.
    Invest Ophthalmol Vis Sci; 2011 Apr 06; 52(5):2227-39. PubMed ID: 21217109
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  • 17. 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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  • 18. 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
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  • 19. 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 01; 60(10):625-30. PubMed ID: 26246154
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  • 20. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
    Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.
    Eur J Ophthalmol; 2012 Oct 01; 22(4):647-53. PubMed ID: 22180149
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