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5. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Perveen R; Lloyd IC; Clayton-Smith J; Churchill A; van Heyningen V; Hanson I; Taylor D; McKeown C; Super M; Kerr B; Winter R; Black GC Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2456-60. PubMed ID: 10937553 [TBL] [Abstract][Full Text] [Related]
6. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Lines MA; Kozlowski K; Kulak SC; Allingham RR; Héon E; Ritch R; Levin AV; Shields MB; Damji KF; Newlin A; Walter MA Invest Ophthalmol Vis Sci; 2004 Mar; 45(3):828-33. PubMed ID: 14985297 [TBL] [Abstract][Full Text] [Related]
7. Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. Vieira V; David G; Roche O; de la Houssaye G; Boutboul S; Arbogast L; Kobetz A; Orssaud C; Camand O; Schorderet DF; Munier F; Rossi A; Delezoide AL; Marsac C; Ricquier D; Dufier JL; Menasche M; Abitbol M Mol Vis; 2006 Dec; 12():1448-60. PubMed ID: 17167399 [TBL] [Abstract][Full Text] [Related]
8. Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. Banerjee-Basu S; Baxevanis AD Hum Mutat; 1999; 14(4):312-9. PubMed ID: 10502778 [TBL] [Abstract][Full Text] [Related]
9. A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. Kniestedt C; Taralczak M; Thiel MA; Stuermer J; Baumer A; Gloor BP Ophthalmology; 2006 Oct; 113(10):1791.e1-8. PubMed ID: 16876867 [TBL] [Abstract][Full Text] [Related]
10. Histopathology and molecular basis of iridogoniodysgenesis syndrome. Pearce WG; Mielke BC; Kulak SC; Walter MA Ophthalmic Genet; 1999 Jun; 20(2):83-8. PubMed ID: 10420192 [TBL] [Abstract][Full Text] [Related]
11. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Flomen RH; Vatcheva R; Gorman PA; Baptista PR; Groet J; Barisić I; Ligutic I; Nizetić D Genomics; 1998 Feb; 47(3):409-13. PubMed ID: 9480756 [TBL] [Abstract][Full Text] [Related]
12. Rieger syndrome: a clinical, molecular, and biochemical analysis. Amendt BA; Semina EV; Alward WL Cell Mol Life Sci; 2000 Oct; 57(11):1652-66. PubMed ID: 11092457 [TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2. Aldave AJ; Sonmez B; Bourla N; Schultz G; Papp JC; Salem AK; Rayner SA; Yellore VS Ophthalmic Genet; 2007 Jun; 28(2):57-67. PubMed ID: 17558846 [TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Brooks BP; Moroi SE; Downs CA; Wiltse S; Othman MI; Semina EV; Richards JE Ophthalmic Genet; 2004 Mar; 25(1):57-62. PubMed ID: 15255117 [TBL] [Abstract][Full Text] [Related]
15. 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 [TBL] [Abstract][Full Text] [Related]
16. Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Walter MA; Mirzayans F; Mears AJ; Hickey K; Pearce WG Ophthalmology; 1996 Nov; 103(11):1907-15. PubMed ID: 8942889 [TBL] [Abstract][Full Text] [Related]
17. Axenfeld-Rieger syndrome in the age of molecular genetics. Alward WL Am J Ophthalmol; 2000 Jul; 130(1):107-15. PubMed ID: 11004268 [TBL] [Abstract][Full Text] [Related]
18. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Semina EV; Reiter RS; Murray JC Hum Mol Genet; 1997 Nov; 6(12):2109-16. PubMed ID: 9328475 [TBL] [Abstract][Full Text] [Related]
19. A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein. Zhang F; Zhang L; He L; Cao M; Yang Y; Duan X; Shi J; Liu K Int Ophthalmol; 2021 Apr; 41(4):1503-1511. PubMed ID: 33492563 [TBL] [Abstract][Full Text] [Related]
20. Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Phillips JC Ophthalmic Res; 2002; 34(5):324-6. PubMed ID: 12381896 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]