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Journal Abstract Search

266 related items for PubMed ID: 22341973

  • 1.
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  • 2. Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
    Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, Lei H, Guo Q.
    Int J Mol Med; 2016 Jun; 37(6):1487-500. PubMed ID: 27121161
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  • 4. Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
    Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M.
    Clin Genet; 2018 Aug; 94(2):221-231. PubMed ID: 29676012
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  • 5. Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort.
    Rao BS, Ansar S, Arokiasamy T, Sudhir RR, Umashankar V, Rajagopal R, Soumittra N.
    Ophthalmic Genet; 2018 Aug; 39(4):443-449. PubMed ID: 29799290
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  • 6. Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
    Riazuddin SA, Zaghloul NA, Al-Saif A, Davey L, Diplas BH, Meadows DN, Eghrari AO, Minear MA, Li YJ, Klintworth GK, Afshari N, Gregory SG, Gottsch JD, Katsanis N.
    Am J Hum Genet; 2010 Jan; 86(1):45-53. PubMed ID: 20036349
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  • 7. Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.
    Riazuddin SA, Vithana EN, Seet LF, Liu Y, Al-Saif A, Koh LW, Heng YM, Aung T, Meadows DN, Eghrari AO, Gottsch JD, Katsanis N.
    Hum Mutat; 2010 Nov; 31(11):1261-8. PubMed ID: 20848555
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  • 8. Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
    Riazuddin SA, McGlumphy EJ, Yeo WS, Wang J, Katsanis N, Gottsch JD.
    Invest Ophthalmol Vis Sci; 2011 Apr; 52(5):2825-9. PubMed ID: 21245398
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  • 9. Fuchs Corneal Dystrophy.
    Eghrari AO, Riazuddin SA, Gottsch JD.
    Prog Mol Biol Transl Sci; 2015 Apr; 134():79-97. PubMed ID: 26310151
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  • 10. Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.
    Riazuddin SA, Eghrari AO, Al-Saif A, Davey L, Meadows DN, Katsanis N, Gottsch JD.
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5667-71. PubMed ID: 19608540
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  • 12. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
    Gottsch JD, Sundin OH, Liu SH, Jun AS, Broman KW, Stark WJ, Vito EC, Narang AK, Thompson JM, Magovern M.
    Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1934-9. PubMed ID: 15914606
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  • 14. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
    Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC.
    Hum Mol Genet; 2001 Oct 01; 10(21):2415-23. PubMed ID: 11689488
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  • 15. Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.
    Sundin OH, Jun AS, Broman KW, Liu SH, Sheehan SE, Vito EC, Stark WJ, Gottsch JD.
    Invest Ophthalmol Vis Sci; 2006 Jan 01; 47(1):140-5. PubMed ID: 16384955
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  • 16. Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
    Kim JH, Ko JM, Tchah H.
    Ophthalmic Genet; 2015 Jan 01; 36(3):284-6. PubMed ID: 24502824
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  • 17. Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.
    Matthaei M, Hu J, Meng H, Lackner EM, Eberhart CG, Qian J, Hao H, Jun AS.
    Invest Ophthalmol Vis Sci; 2013 Mar 15; 54(3):1931-40. PubMed ID: 23449721
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  • 18. Age-severity relationships in families linked to FCD2 with retroillumination photography.
    McGlumphy EJ, Yeo WS, Riazuddin SA, Al-Saif A, Wang J, Eghrari AO, Meadows DN, Emmert DG, Katsanis N, Gottsch JD.
    Invest Ophthalmol Vis Sci; 2010 Dec 15; 51(12):6298-302. PubMed ID: 20811064
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  • 19. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
    Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T, Simpson DA, Churchill AJ, Héon E, Willoughby CE.
    Invest Ophthalmol Vis Sci; 2013 May 03; 54(5):3215-23. PubMed ID: 23599324
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  • 20. Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.
    Zhang C, Bell WR, Sundin OH, De La Cruz Z, Stark WJ, Green WR, Gottsch JD.
    Trans Am Ophthalmol Soc; 2006 May 03; 104():85-97. PubMed ID: 17471329
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