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Journal Abstract Search

263 related items for PubMed ID: 22039241

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  • 3. Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
    Vijayasarathy C, Sardar Pasha SPB, Sieving PA.
    Prog Retin Eye Res; 2022 Mar; 87():100999. PubMed ID: 34390869
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  • 4. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
    Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA.
    Hum Mol Genet; 2010 Apr 01; 19(7):1302-13. PubMed ID: 20061330
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  • 6. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
    Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A.
    Mol Vis; 2008 Apr 01; 14():2321-32. PubMed ID: 19093009
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  • 7. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
    Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE.
    Hum Mol Genet; 2013 Dec 01; 22(23):4756-67. PubMed ID: 23847049
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  • 9. Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
    Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Dec 20; 52(13):9614-23. PubMed ID: 22110067
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  • 10. Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
    Eksandh L, Andréasson S, Abrahamson M.
    Ophthalmic Genet; 2005 Sep 20; 26(3):111-7. PubMed ID: 16272055
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  • 11. An ex vivo gene therapy approach in X-linked retinoschisis.
    Bashar AE, Metcalfe AL, Viringipurampeer IA, Yanai A, Gregory-Evans CY, Gregory-Evans K.
    Mol Vis; 2016 Sep 20; 22():718-33. PubMed ID: 27390514
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  • 12. Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.
    Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.
    Mol Vis; 2008 Aug 25; 14():1549-58. PubMed ID: 18728755
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  • 13. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
    Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, Weber BH.
    Doc Ophthalmol; 2008 Mar 25; 116(2):97-109. PubMed ID: 17987333
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  • 18. Long-term 12 year follow-up of X-linked congenital retinoschisis.
    Kjellström S, Vijayasarathy C, Ponjavic V, Sieving PA, Andréasson S.
    Ophthalmic Genet; 2010 Sep 25; 31(3):114-25. PubMed ID: 20569020
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