293 related articles for article (PubMed ID: 17106362)
1. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD).
Chavarria-Soley G; Michels-Rautenstrauss K; Caliebe A; Kautza M; Mardin C; Rautenstrauss B
J Glaucoma; 2006 Dec; 15(6):499-504. PubMed ID: 17106362
[TBL] [Abstract][Full Text] [Related]
2. A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum.
Berker N; Alanay Y; Elgin U; Volkan-Salanci B; Simsek T; Akarsu N; Alikasifoglu M
Acta Ophthalmol; 2009 Feb; 87(1):52-7. PubMed ID: 18616618
[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. 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]
5. A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Weisschuh N; Wolf C; Wissinger B; Gramer E
Clin Genet; 2008 Nov; 74(5):476-80. PubMed ID: 18498376
[TBL] [Abstract][Full Text] [Related]
6. Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A; David G; Schwartz C; Jaliffa C; Vieira V; de la Houssaye G; Bigot K; Catin F; Tattu L; Chopin C; Halimi P; Roche O; Van Regemorter N; Munier F; Schorderet D; Dufier JL; Marsac C; Ricquier D; Menasche M; Penfornis A; Abitbol M
Mol Vis; 2007 Apr; 13():511-23. PubMed ID: 17417613
[TBL] [Abstract][Full Text] [Related]
7. Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.
Ito YA; Footz TK; Berry FB; Mirzayans F; Yu M; Khan AO; Walter MA
Invest Ophthalmol Vis Sci; 2009 Aug; 50(8):3573-9. PubMed ID: 19279310
[TBL] [Abstract][Full Text] [Related]
8. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.
Khan AO; Aldahmesh MA; Al-Abdi L; Mohamed JY; Hashem M; Al-Ghamdi I; Alkuraya FS
Ophthalmic Genet; 2011 Sep; 32(3):138-42. PubMed ID: 21306220
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of Peters anomaly in Saudi Arabia.
Edward D; Al Rajhi A; Lewis RA; Curry S; Wang Z; Bejjani B
Ophthalmic Genet; 2004 Dec; 25(4):257-70. PubMed ID: 15621878
[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. A case of aniridia with unilateral Peters anomaly.
Sawada M; Sato M; Hikoya A; Wang C; Minoshima S; Azuma N; Hotta Y
J AAPOS; 2011 Feb; 15(1):104-6. PubMed ID: 21397818
[TBL] [Abstract][Full Text] [Related]
12. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.
Zhang X; Tong Y; Xu W; Dong B; Yang H; Xu L; Li Y
Eye (Lond); 2011 Dec; 25(12):1581-9. PubMed ID: 21904390
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.
Jia X; Guo X; Jia X; Xiao X; Li S; Zhang Q
Mol Vis; 2010 Apr; 16():676-81. PubMed ID: 20405024
[TBL] [Abstract][Full Text] [Related]
14. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia.
Gregory-Evans K; Cheong-Leen R; George SM; Xie J; Moosajee M; Colapinto P; Gregory-Evans CY
Can J Ophthalmol; 2011 Aug; 46(4):337-44. PubMed ID: 21816254
[TBL] [Abstract][Full Text] [Related]
15. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.
Brémond-Gignac D; Bitoun P; Reis LM; Copin H; Murray JC; Semina EV
Mol Vis; 2010 Aug; 16():1705-11. PubMed ID: 20806047
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Whole exome sequence analysis of Peters anomaly.
Weh E; Reis LM; Happ HC; Levin AV; Wheeler PG; David KL; Carney E; Angle B; Hauser N; Semina EV
Hum Genet; 2014 Dec; 133(12):1497-511. PubMed ID: 25182519
[TBL] [Abstract][Full Text] [Related]
18. Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
Yahalom C; Sharon D; Dalia E; Simhon SB; Shemesh E; Blumenfeld A
Ophthalmic Genet; 2015 Jun; 36(2):175-9. PubMed ID: 25687215
[TBL] [Abstract][Full Text] [Related]
19. Rieger syndrome is not associated with PAX6 deletion: a correction to Acta Ophthalmol Scand 2001: 79: 201-203.
Riise R; D'haene B; De Baere E; Grønskov K; Brøndum-Nielsen K
Acta Ophthalmol; 2009 Nov; 87(8):923. PubMed ID: 19764918
[No Abstract] [Full Text] [Related]
20. Primary congenital and developmental glaucomas.
Lewis CJ; Hedberg-Buenz A; DeLuca AP; Stone EM; Alward WLM; Fingert JH
Hum Mol Genet; 2017 Aug; 26(R1):R28-R36. PubMed ID: 28549150
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]