211 related articles for article (PubMed ID: 24390743)
1. Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.
Yin HF; Fang XY; Jin CF; Yin JF; Li JY; Zhao SJ; Miao Q; Song FW
J Zhejiang Univ Sci B; 2014 Jan; 15(1):43-50. PubMed ID: 24390743
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.
Lo Faro V; Siddiqui SN; Khan MI; Villanueva-Mendoza C; Cortés-González V; Jansonius N; Bergen AAB; Micheal S
Mol Genet Genomic Med; 2020 Jul; 8(7):e1215. PubMed ID: 32400113
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.
Li D; Zhu Q; Lin H; Zhou N; Qi Y
Mol Vis; 2008; 14():2205-10. PubMed ID: 19052653
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Seifi M; Footz T; Taylor SA; Elhady GM; Abdalla EM; Walter MA
Acta Ophthalmol; 2016 Nov; 94(7):e571-e579. PubMed ID: 27009473
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.
Zhao CM; Peng LY; Li L; Liu XY; Wang J; Zhang XL; Yuan F; Li RG; Qiu XB; Yang YQ
PLoS One; 2015; 10(4):e0124409. PubMed ID: 25893250
[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. 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]
17. 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]
18. Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.
Law SK; Sami M; Piri N; Coleman AL; Caprioli J
Mol Vis; 2011; 17():1231-8. PubMed ID: 21617748
[TBL] [Abstract][Full Text] [Related]
19. A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.
Yang Y; Wang X; Zhao Y; Qin M
Oral Dis; 2018 Oct; 24(7):1247-1254. PubMed ID: 29774977
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
