469 related articles for article (PubMed ID: 12454026)
21. Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).
Kumar A; Babu M; Raghunath A; Venkatesh CP
Mol Vis; 2004 Jul; 10():445-9. PubMed ID: 15257268
[TBL] [Abstract][Full Text] [Related]
22. Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X; Liu X; Huang L; Fang S; Jia X; Xiao X; Li S; Guo X
Curr Eye Res; 2018 Nov; 43(11):1334-1341. PubMed ID: 29939776
[TBL] [Abstract][Full Text] [Related]
23. 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(6):905-19. PubMed ID: 16449236
[TBL] [Abstract][Full Text] [Related]
24. Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
de la Houssaye G; Bieche I; Roche O; Vieira V; Laurendeau I; Arbogast L; Zeghidi H; Rapp P; Halimi P; Vidaud M; Dufier JL; Menasche M; Abitbol M
BMC Med Genet; 2006 Nov; 7():82. PubMed ID: 17134502
[TBL] [Abstract][Full Text] [Related]
25. Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
Saleem RA; Banerjee-Basu S; Berry FB; Baxevanis AD; Walter MA
Hum Mol Genet; 2003 Nov; 12(22):2993-3005. PubMed ID: 14506133
[TBL] [Abstract][Full Text] [Related]
26. Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.
Hernández-Martínez N; González-Del Angel A; Alcántara-Ortigoza MA; González-Huerta LM; Cuevas-Covarrubias SA; Villanueva-Mendoza C
Ophthalmic Genet; 2018 Dec; 39(6):728-734. PubMed ID: 30457409
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Identification and analysis of a novel mutation in the FOXC1 forkhead domain.
Saleem RA; Murphy TC; Liebmann JM; Walter MA
Invest Ophthalmol Vis Sci; 2003 Nov; 44(11):4608-12. PubMed ID: 14578375
[TBL] [Abstract][Full Text] [Related]
29. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
Grosso S; Farnetani MA; Berardi R; Vivarelli R; Vanni M; Morgese G; Balestri P
Am J Med Genet; 2002 Aug; 111(2):182-6. PubMed ID: 12210347
[TBL] [Abstract][Full Text] [Related]
30. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
Gripp KW; Hopkins E; Jenny K; Thacker D; Salvin J
Am J Med Genet A; 2013 Jan; 161A(1):114-9. PubMed ID: 23239455
[TBL] [Abstract][Full Text] [Related]
31. Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function.
Lehmann OJ; Tuft S; Brice G; Smith R; Blixt A; Bell R; Johansson B; Jordan T; Hitchings RA; Khaw PT; John SW; Carlsson P; Bhattacharya SS
Invest Ophthalmol Vis Sci; 2003 Jun; 44(6):2627-33. PubMed ID: 12766066
[TBL] [Abstract][Full Text] [Related]
32. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.
Smith RS; Zabaleta A; Kume T; Savinova OV; Kidson SH; Martin JE; Nishimura DY; Alward WL; Hogan BL; John SW
Hum Mol Genet; 2000 Apr; 9(7):1021-32. PubMed ID: 10767326
[TBL] [Abstract][Full Text] [Related]
33. Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.
Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R; Khan MI; den Hollander AI
Neurogenetics; 2016 Jan; 17(1):17-23. PubMed ID: 26489929
[TBL] [Abstract][Full Text] [Related]
34. Axenfeld-Rieger syndrome in monozygotic twins.
Ma J; Zhong Y; Zhao C; Zhang X; Sui R; Chu P; Zhao J
J Glaucoma; 2011 Dec; 20(9):584-6. PubMed ID: 21278591
[TBL] [Abstract][Full Text] [Related]
35. A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.
Kim GN; Ki CS; Seo SW; Yoo JM; Han YS; Chung IY; Park JM; Kim SJ
Mol Vis; 2013; 19():935-43. PubMed ID: 23687430
[TBL] [Abstract][Full Text] [Related]
36. Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.
Swiderski RE; Reiter RS; Nishimura DY; Alward WL; Kalenak JW; Searby CS; Stone EM; Sheffield VC; Lin JJ
Dev Dyn; 1999 Sep; 216(1):16-27. PubMed ID: 10474162
[TBL] [Abstract][Full Text] [Related]
37. The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.
Chakrabarti S; Kaur K; Rao KN; Mandal AK; Kaur I; Parikh RS; Thomas R
Invest Ophthalmol Vis Sci; 2009 Jan; 50(1):75-83. PubMed ID: 18708620
[TBL] [Abstract][Full Text] [Related]
38. A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
Du RF; Huang H; Fan LL; Li XP; Xia K; Xiang R
Ophthalmic Genet; 2016; 37(1):111-5. PubMed ID: 24914578
[No Abstract] [Full Text] [Related]
39. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Yang HJ; Lee YK; Joo CK; Moon JI; Mok JW; Park MH
Korean J Ophthalmol; 2015 Aug; 29(4):249-55. PubMed ID: 26240509
[TBL] [Abstract][Full Text] [Related]
40. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics.
Hollander DA; Sarfarazi M; Stoilov I; Wood IS; Fredrick DR; Alvarado JA
Am J Ophthalmol; 2006 Dec; 142(6):993-1004. PubMed ID: 17157584
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
