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Journal Abstract Search

221 related items for PubMed ID: 11170889

  • 1. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
    Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC.
    Am J Hum Genet; 2001 Feb; 68(2):364-72. PubMed ID: 11170889
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  • 2. Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
    Lehmann OJ, Ebenezer ND, Ekong R, Ocaka L, Mungall AJ, Fraser S, McGill JI, Hitchings RA, Khaw PT, Sowden JC, Povey S, Walter MA, Bhattacharya SS, Jordan T.
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1843-9. PubMed ID: 12036988
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  • 3. Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.
    Mortemousque B, Amati-Bonneau P, Couture F, Graffan R, Dubois S, Colin J, Bonneau D, Morissette J, Lacombe D, Raymond V.
    Arch Ophthalmol; 2004 Oct; 122(10):1527-33. PubMed ID: 15477465
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  • 4. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma.
    Lehmann OJ, Ebenezer ND, Jordan T, Fox M, Ocaka L, Payne A, Leroy BP, Clark BJ, Hitchings RA, Povey S, Khaw PT, Bhattacharya SS.
    Am J Hum Genet; 2000 Nov; 67(5):1129-35. PubMed ID: 11007653
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  • 16. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
    Murphy TC, Saleem RA, Footz T, Ritch R, McGillivray B, Walter MA.
    Invest Ophthalmol Vis Sci; 2004 Aug; 45(8):2531-8. PubMed ID: 15277473
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  • 19. Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
    Kawase C, Kawase K, Taniguchi T, Sugiyama K, Yamamoto T, Kitazawa Y, Alward WL, Stone EM, Nishimura DY, Sheffield VC.
    J Glaucoma; 2001 Dec; 10(6):477-82. PubMed ID: 11740218
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  • 20. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
    Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA.
    Hum Mol Genet; 2006 Mar 15; 15(6):905-19. PubMed ID: 16449236
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