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Journal Abstract Search

277 related items for PubMed ID: 9792859

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  • 2. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
    Mirzayans F, Gould DB, Héon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA.
    Eur J Hum Genet; 2000 Jan; 8(1):71-4. PubMed ID: 10713890
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  • 5. A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.
    Suzuki T, Takahashi K, Kuwahara S, Wada Y, Abe T, Tamai M.
    Am J Ophthalmol; 2001 Oct; 132(4):572-5. PubMed ID: 11589884
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  • 8. Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
    Borges AS, Susanna R, Carani JC, Betinjane AJ, Alward WL, Stone EM, Sheffield VC, Nishimura DY.
    J Glaucoma; 2002 Feb; 11(1):51-6. PubMed ID: 11821690
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  • 9. 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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  • 16. Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
    Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.
    Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3846-52. PubMed ID: 16936096
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  • 17. 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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  • 19. 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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  • 20. Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.
    Cella W, de Vasconcellos JP, de Melo MB, Kneipp B, Costa FF, Longui CA, Costa VP.
    Invest Ophthalmol Vis Sci; 2006 May; 47(5):1803-9. PubMed ID: 16638984
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