| 1 | AXRI, FOXC1
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| A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
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| Weisschuh N, Wolf C, Wissinger B, Gramer E.
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| Clin Genet 74(5):476-80. Epub 2008 May 21.
2008
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| 2 | DEL6PD, FOXC1, AXRI
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| Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.
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| Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C.
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| Eur J Med Genet 50(2):120-7. Epub 2006 Oct 28. 2007
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| 3 | DEL6PD, AXRI
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| Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous.
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| Suzuki K, Nakamura M, Amano E, Mokuno K, Shirai S, Terasaki H.
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| Am J Med Genet A 140(5):503-8. 2006
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| 4 | RIEG1, PITX2, AXRI, FOXC1
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| Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
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| Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ, Walter MA.
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| Hum Mol Genet 15(6):905-19. Epub 2006 Jan 31. 2006
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| 5 | DEL6PD, FOXC1, AXRI
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| Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.
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| Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Ades LC.
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| Am J Med Genet A 132(4):381-5. Review. 2005
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| 6 | DEL6PD, AXRI
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| Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
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| Ekong R, Jeremiah S, Judah D, Lehmann O, Mirzayans F, Hung YC, Walter MA, Bhattacharya S, Gant TW, Povey S, Wolfe J.
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| Hum Mutat 24(1):76-85. 2004
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| 7 | AXRI, FOXC1
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| A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
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| Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL.
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| Am J Ophthalmol 135(3):368-75. 2003
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| 8 | FOXC1, AXRI
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| Identification and analysis of a novel mutation in the FOXC1 forkhead domain.
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| Saleem RA, Murphy TC, Liebmann JM, Walter MA.
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| Invest Ophthalmol Vis Sci 44(11):4608-12. 2003
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| 9 | AXRI, AXR2, RIEG1, RIEG2
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| Molecular genetics of Axenfeld-Rieger malformations.
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| Lines MA, Kozlowski K, Walter MA.
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| Hum Mol Genet 11(10):1177-87. 2002
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| 10 | AXRI, FOXC1
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| Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
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| Panicker SG, Sampath S, Mandal AK, Reddy AB, Ahmed N, Hasnain SE.
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| Invest Ophthalmol Vis Sci 43(12):3613-6. 2002
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| 11 | FOXC1, DEL6PD, AXRI
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| Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
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| 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.
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| Invest Ophthalmol Vis Sci 43(6):1843-9. 2002
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| 12 | AXRI, FOXC1
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| A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
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| Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC.
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| Am J Hum Genet 68(2):364-72. 2001
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| 13 | AXRI, FOXC1, FOXC2
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| Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
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| Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BL, John SW.
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| Hum Mol Genet 9(7):1021-32. 2000
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| 14 | AXRI, FOXC1
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| Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
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| Mirzayans F, Gould DB, Heon E, Billingsley GD, Cheung JC, Mears AJ, Walter MA.
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| Eur J Hum Genet 8(1):71-4. 2000
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| 15 | AXRI, AXR2, RIEG1, RIEG2,FOXC1, PTX2
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| Axenfeld-Rieger syndrome in the age of molecular genetics.
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| Alward WL.
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| Am J Ophthalmol 130(1):107-15. Review. 2000
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| 16 | AXRI, FOXC1
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| The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
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| Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC.
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| Nat Genet 19(2):140-7. 1998
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| 17 | AXRI, FOXC1
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| The Forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus.
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| Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL.
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| Cell 93(6):985-96. 1998
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| 18 | AXRI, FOXC1
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| Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
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| Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerback S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA.
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| Am J Hum Genet 63(5):1316-28. 1998
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| 19 | AXRI
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| A new locus for autosomal dominant open-angle glaucoma maps to chromosome 6p25. (abstr)
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| Morissette J, et al.
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| Invest Ophthalmol Vis Sci 38 : 4337. 1997
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| 20 | AXRI
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| Genetic linkage of autosomal dominant familial glaucoma to chromosome 6p25. (abstr)
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| Jordan T, et al.
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| Invest Ophthalmol Vis Sci 38 : 2691. 1997
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| 21 | AXRI
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| Axenfeld-Rieger anomaly maps to 6p25. (abstr)
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| Gould DB, et al.
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| Invest Ophthalmol Vis Sci 38 : S801. 1997
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| 22 | AXRI
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| Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning.
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| Mirzayans F, Mears AJ, Guo SW, Pearce WG, Walter MA.
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| Am J Hum Genet 61(1):111-9. 1997
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| 23 | AXRI
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| Characterization of 6p25 chromosomal anomalies in two patients identifies a potential candidate gene causing congenital glaucoma. (asbtr)
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| Nishimura DY, et al.
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| Am J Hum Genet 61 : A21. 1997
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| 24 | AXRI
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| Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel.
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| Graff C, Jerndal T, Wadelius C.
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| Hum Genet 101(2):130-4. 1997
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| 25 | AXRI, FOXC1
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| Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly.
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| Jordan T, Ebenezer N, Manners R, McGill J, Bhattacharya S.
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| Am J Hum Genet 61(4):882-8. 1997
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| 26 | AXRI
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| Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.
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| Mears AJ, et al.
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| Am J Hum Genet 59 : 1321-1327. 1996
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