296 related articles for article (PubMed ID: 23239455)
1. 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]
2. PITX2 and FOXC1 spectrum of mutations in ocular syndromes.
Reis LM; Tyler RC; Volkmann Kloss BA; Schilter KF; Levin AV; Lowry RB; Zwijnenburg PJ; Stroh E; Broeckel U; Murray JC; Semina EV
Eur J Hum Genet; 2012 Dec; 20(12):1224-33. PubMed ID: 22569110
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
Micheal S; Siddiqui SN; Zafar SN; Villanueva-Mendoza C; Cortés-González V; Khan MI; den Hollander AI
PLoS One; 2016; 11(7):e0160016. PubMed ID: 27463523
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.
Zhang L; Peng Y; Ouyang P; Liang Y; Zeng H; Wang N; Duan X; Shi J
BMC Med Genet; 2019 Jun; 20(1):105. PubMed ID: 31185933
[TBL] [Abstract][Full Text] [Related]
9. Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM; Maheshwari M; Capasso J; Atilla H; Dudakova L; Thompson S; Zitano L; Lay-Son G; Lowry RB; Black J; Lee J; Shue A; Kremlikova Pourova R; Vaneckova M; Skalicka P; Jedlickova J; Trkova M; Williams B; Richard G; Bachman K; Seeley AH; Costakos D; Glaser TM; Levin AV; Liskova P; Murray JC; Semina EV
J Med Genet; 2023 Apr; 60(4):368-379. PubMed ID: 35882526
[TBL] [Abstract][Full Text] [Related]
10. Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
Strungaru MH; Dinu I; Walter MA
Invest Ophthalmol Vis Sci; 2007 Jan; 48(1):228-37. PubMed ID: 17197537
[TBL] [Abstract][Full Text] [Related]
11. A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
Honkanen RA; Nishimura DY; Swiderski RE; Bennett SR; Hong S; Kwon YH; Stone EM; Sheffield VC; Alward WL
Am J Ophthalmol; 2003 Mar; 135(3):368-75. PubMed ID: 12614756
[TBL] [Abstract][Full Text] [Related]
12. A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.
Li K; Tang M; Xu M; Yu Y
BMC Med Genomics; 2021 Oct; 14(1):255. PubMed ID: 34715865
[TBL] [Abstract][Full Text] [Related]
13. A large deletion spanning
Qin Y; Gao P; Yu S; Li J; Huang Y; Jia D; Tang Z; Li P; Liu F; Liu M
Mol Vis; 2020; 26():670-678. PubMed ID: 33088171
[TBL] [Abstract][Full Text] [Related]
14. Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.
Yun JW; Cho HK; Oh SY; Ki CS; Kee C
Ann Lab Med; 2013 Sep; 33(5):360-3. PubMed ID: 24003428
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Souzeau E; Siggs OM; Pasutto F; Knight LSW; Perez-Jurado LA; McGregor L; Le Blanc S; Barnett CP; Liebelt J; Craig JE
Am J Med Genet A; 2021 Feb; 185(2):434-439. PubMed ID: 33231930
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Fuse N; Takahashi K; Yokokura S; Nishida K
Mol Vis; 2007 Jun; 13():1005-9. PubMed ID: 17653043
[TBL] [Abstract][Full Text] [Related]
18. Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.
Ferre-Fernández JJ; Sorokina EA; Thompson S; Collery RF; Nordquist E; Lincoln J; Semina EV
Hum Mol Genet; 2020 Sep; 29(16):2723-2735. PubMed ID: 32720677
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
Panicker SG; Sampath S; Mandal AK; Reddy AB; Ahmed N; Hasnain SE
Invest Ophthalmol Vis Sci; 2002 Dec; 43(12):3613-6. PubMed ID: 12454026
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]