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Journal Abstract Search

349 related items for PubMed ID: 26261414

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  • 2. [Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].
    Rong WN, Sheng XL, Liu YN.
    Zhonghua Yan Ke Za Zhi; 2012 Oct; 48(10):893-7. PubMed ID: 23302243
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  • 3. 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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  • 5. Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
    Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E.
    Ophthalmology; 2018 May 24; 125(5):725-734. PubMed ID: 29276052
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  • 6. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D.
    Invest Ophthalmol Vis Sci; 2010 Sep 24; 51(9):4387-94. PubMed ID: 20375346
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  • 12. 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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  • 13. [An epidemiogenetic study of typical retinitis pigmentosa in Japan--a preliminary report of nationwide, multicenter study].
    Fujiki K, Hayakawa M, Kanai A, Matsumura M, Koizumi H, Tamai M, Shiono T, Tokoro T, Akazawa Y, Kubota N.
    Nippon Ganka Gakkai Zasshi; 1992 Feb 13; 96(2):225-30. PubMed ID: 1558019
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  • 15. Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa.
    Hayakawa M, Fujiki K, Kanai A, Matsumura M, Honda Y, Sakaue H, Tamai M, Sakuma T, Tokoro T, Yura T, Kubota N, Kawano S, Matsui M, Yuzawa M, Oguchi Y, Akeo K, Adachi E, Kimura T, Miyake Y, Horiguchi M, Wakabayashi K, Ishizaka N, Koizumi K, Uyama M, Ohba N.
    Jpn J Ophthalmol; 1997 Feb 13; 41(1):7-11. PubMed ID: 9147181
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  • 16. 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 13; 46(7):2264-70. PubMed ID: 15980210
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  • 18. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May 13; 46(5):1735-41. PubMed ID: 15851576
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  • 20. A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.
    Ostergaard E, Duno M, Batbayli M, Vilhelmsen K, Rosenberg T.
    Mol Vis; 2011 May 13; 17():1485-92. PubMed ID: 21677792
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