| 1 | DEL4Q, PITX2, RIEG1
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| Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25-q31.1).
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| Moreira L, Schinzel A, Baumer A, Pinto P, Góes F, Falcão Mde L, Barbosa AL, Riegel M.
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| Am J Med Genet A 152A(4):977-81.PMID: 20358612 2010
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| 2 | AXR1, FOXC1, PITX2, RIEG1
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| Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
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| Tümer Z, Bach-Holm D.
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| Eur J Hum Genet 17(12):1527-39. Epub 2009 Jun 10.
2009
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| 3 | PAWR, PITX2, RIEG1
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| Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.
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| Acharya M, Lingenfelter DJ, Huang L, Gage PJ, Walter MA.
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| J Biol Chem 284(50):34829-38. Epub 2009 Oct 2.PMID: 19801652 2009
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| 4 | FOXJ1, PITX2, RIEG1
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| Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis.
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| Venugopalan SR, Amen MA, Wang J, Wong L, Cavender AC, D'Souza RN, Akerlund M, Brody SL, Hjalt TA, Amendt BA.
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| Hum Mol Genet 17(23):3643-54. Epub 2008 Aug 22.
2008
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| 5 | AXR1, FOXC1, PITX2, RIEG1
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| Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
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| Strungaru MH, Dinu I, Walter MA.
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| Invest Ophthalmol Vis Sci 48(1):228-37. 2007
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| 6 | RIEG1, PITX2, ENPEP
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| Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
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| Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, TŸmer Z.
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| Clin Genet 72(5):464-70. Epub 2007 Sep 10. 2007
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| 7 | ASMD2, ASMD3, ASMD4, ASMD5, ASMFD, AXR1, AXR2, FOXC1, IRID1, MAF, PAX6, PITX2, RIEG1, RIEG2
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| Molecular and developmental mechanisms of anterior segment dysgenesis.
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| Sowden JC.
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| Eye 21(10):1310-8. Review. 2007
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| 8 | DEL4Q, PITX2, RIEG1
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| Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
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| Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers HH, Silva E, Tommerup N, Tümer Z.
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| Clin Genet 72(5):464-70. Epub 2007 Sep 10.PMID: 17850355 2007
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| 9 | 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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| 10 | AXR1, FOXC1, PITX2, RIEG1
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| Novel Mutations of FOXC1 and PITX2 in Patients with Axenfeld-Rieger Malformations.
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| Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.
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| Invest Ophthalmol Vis Sci 47(9):3846-52. 2006
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| 11 | PITX2, RIEG1
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| A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy.
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| Kniestedt C, Taralczak M, Thiel MA, Stuermer J, Baumer A, Gloor BP.
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| Ophthalmology 113(10):1791.e1-8. Epub 2006 Jul 31. 2006
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| 12 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 13 | PITX2, RIEG1
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| Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations.
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| Lines MA, Kozlowski K, Kulak SC, Allingham RR, Heon E, Ritch R, Levin AV, Shields MB, Damji KF, Newlin A, Walter MA.
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| Invest Ophthalmol Vis Sci 45(3):828-33. 2004
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| 14 | 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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| 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 | RIEG1
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| A mutation in the RIEG1 gene associated with Peters' anomaly.
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| Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC.
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| J Med Genet 36 : 152-155. 1999
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| 17 | PITX2, RIEG1
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| Threading analysis of the Pitx2 homeodomain: Predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
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| Banerjee-Basu S, Baxevanis AD.
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| Hum Mutat 14(4):312-319 1999
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| 18 | PITX2, RIEG1
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| Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.
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| Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF.
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| Nature 401(6750):276-8 1999
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| 19 | PITX2, RIEG1
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| Construction and analysis of a sequence-ready map in 4q25 : Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks 90 kb upstream of this gene.
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| Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Groet J, Barisic I, Ligutic I, Nizetic D.
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| Genomics 47(3):409-13. 1998
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| 20 | RIEG1, PITX2
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| The molecular basis of Rieger syndrome. Analysis of Pitx2 homeodomain protein activities.
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| Amendt BA, Sutherland LB, Semina EV, Russo AF.
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| J Biol Chem 273(32):20066-72. 1998
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| 21 | RIEG1
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| Rieger syndrome locus : a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.
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| Flomen RH, et al.
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| J Med Genet 34 : 191-195. 1997
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| 22 | RIEG1
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| Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25-q27) secondary to a balanced insertion in his normal father : evidence for haplotype insufficiency causing the Rieger malformation.
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| Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH.
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| J Med Genet 34(12):1012-4. 1997
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| 23 | RIEG1, PITX2
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| Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome.
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| Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC.
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| Nat Genet 14(4):392-9. 1996
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| 24 | RIEG1
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| Closing in on the Rieger syndrome gene on 4q25 : mapping translocation breakpoints within a 50-kb region.
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| Datson NA, et al.
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| Am J Hum Genet 59 : 1297-1305. 1996
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| 25 | EGF, RIEG1
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| Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus.
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| Semina EV, et al.
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| Am J Hum Genet 59 : 1288-1296. 1996
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| 26 | RIEG1
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| Rieger syndrome with De novo reciprocal translocation t(1;4) (q23.1;q25).
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| Makita Y, et al.
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| Am J Med Genet 57 : 19-21. 1995
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| 27 | IHG2, RIEG1
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| Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
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| HŽon E, et al.
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| Hum Mol Genet 4 : 1435-1439. 1995
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| 28 | RIEG1
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| Genetic heterogeneity in Rieger eye malformation.
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| Legius E, et al.
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| J Med Genet 31 : 340-341. 1994
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| 29 | RIEG1
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| Evidence that Rieger syndrome maps to 4q25 or 4q27.
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| Vaux C, et al.
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| J Med Genet 29 : 256-258. 1992
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| 30 | RIEG1
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| Rieger syndrome and interstitial 4q26 deletion.
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| Fryns JP, et al.
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| Genet Couns 3 : 153-154. 1992
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| 31 | RIEG1, D4S191
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| Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
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| Murray JC, et al.
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| Nat Genet 2 : 46-49. 1992
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| 32 | RIEG1
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| Deletion of a single chromosome band 4q26 in a malformed girl : exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.
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| Motegi T, Nakamura K, Terakawa T, Oohira A, Minoda K, Kishi K, Yanagawa Y, Hayakawa H.
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| J Med Genet 25 : 628-633. 1988
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| 33 | ADH@, ADH1A, ADH1B, ADH1C, ADH4, ADH5, IL2, RIEG1
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| Mapping of ADH3, EGF and IL2 in a patient with Riegers-like phenotype and 4q23-q27 deletion.
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| Shiang R, et al.
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| Am J Hum Genet 41 : A185. 1987
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| 34 | RIEG1
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| A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
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| Nielsen F, et al.
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| J Med Genet 21 : 218-221. 1984
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| 35 | RIEG1, RIEG1
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| Anterior segment mesenchymal dysgenesis : probable linkage to the MNS blood group on chromosome 4.
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| Ferrell RE, et al.
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| Am J Hum Genet 34 : 245-249. 1982
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| 36 | RIEG1
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| Interstitial deletion 4q and Rieger syndrome.
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| Ligutic I, et al.
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| Clin Genet 20 : 323-327. 1981
|