262 related articles for article (PubMed ID: 25475187)
1. [Genetics of congenital aniridia].
Neuhaus C; Betz C; Bergmann C; Bolz HJ
Ophthalmologe; 2014 Dec; 111(12):1157-63. PubMed ID: 25475187
[TBL] [Abstract][Full Text] [Related]
2. [Two neonates with congenital aniridia: the necessity of genetic investigation].
van Os E; Niemarkt HJ; Verreussel MJ; Cruysberg JR; Bok LA; Spruijt L
Ned Tijdschr Geneeskd; 2008 Mar; 152(10):569-73. PubMed ID: 18402324
[TBL] [Abstract][Full Text] [Related]
3. [Congenital aniridia or PAX6 syndrome].
Käsmann-Kellner B; Seitz B
Ophthalmologe; 2014 Dec; 111(12):1144. PubMed ID: 25475186
[No Abstract] [Full Text] [Related]
4. [Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care ("aniridia guide")].
Käsmann-Kellner B; Seitz B
Ophthalmologe; 2014 Dec; 111(12):1145-56. PubMed ID: 25475188
[TBL] [Abstract][Full Text] [Related]
5. A deletion 3' to the PAX6 gene in familial aniridia cases.
D'Elia AV; Pellizzari L; Fabbro D; Pianta A; Divizia MT; Rinaldi R; Grammatico B; Grammatico P; Arduino C; Damante G
Mol Vis; 2007 Jul; 13():1245-50. PubMed ID: 17679951
[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. Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.
Lim HT; Seo EJ; Kim GH; Ahn H; Lee HJ; Shin KH; Lee JK; Yoo HW
Ophthalmology; 2012 Jun; 119(6):1258-64. PubMed ID: 22361317
[TBL] [Abstract][Full Text] [Related]
8. Aniridia.
Hingorani M; Hanson I; van Heyningen V
Eur J Hum Genet; 2012 Oct; 20(10):1011-7. PubMed ID: 22692063
[TBL] [Abstract][Full Text] [Related]
9. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey SK; Mahalaxmi N; Vijayalakshmi P; Sundaresan P
Mol Vis; 2015; 21():88-97. PubMed ID: 25678763
[TBL] [Abstract][Full Text] [Related]
10. WAGR syndrome--a case report.
Mahale A; Poornima V; Shrestha M
Nepal Med Coll J; 2007 Jun; 9(2):138-40. PubMed ID: 17899969
[TBL] [Abstract][Full Text] [Related]
11. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family.
Cheng F; Song W; Kang Y; Yu S; Yuan H
Mol Vis; 2011 Feb; 17():448-55. PubMed ID: 21321669
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
Grønskov K; Olsen JH; Sand A; Pedersen W; Carlsen N; Bak Jylling AM; Lyngbye T; Brøndum-Nielsen K; Rosenberg T
Hum Genet; 2001 Jul; 109(1):11-8. PubMed ID: 11479730
[TBL] [Abstract][Full Text] [Related]
14. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
Redeker EJ; de Visser AS; Bergen AA; Mannens MM
Mol Vis; 2008 May; 14():836-40. PubMed ID: 18483559
[TBL] [Abstract][Full Text] [Related]
15. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression.
Zhang X; Qin G; Chen G; Li T; Gao L; Huang L; Zhang Y; Ouyang K; Wang Y; Pang Y; Zeng B; Yu L
Hum Mutat; 2015 Dec; 36(12):1164-7. PubMed ID: 26394807
[TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
Robinson DO; Howarth RJ; Williamson KA; van Heyningen V; Beal SJ; Crolla JA
Am J Med Genet A; 2008 Mar; 146A(5):558-69. PubMed ID: 18241071
[TBL] [Abstract][Full Text] [Related]
17. Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations.
Villarroel CE; Villanueva-Mendoza C; Orozco L; Alcántara-Ortigoza MA; Jiménez DF; Ordaz JC; González-del Angel A
Mol Vis; 2008 Sep; 14():1650-8. PubMed ID: 18776953
[TBL] [Abstract][Full Text] [Related]
18. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.
Crolla JA; van Heyningen V
Am J Hum Genet; 2002 Nov; 71(5):1138-49. PubMed ID: 12386836
[TBL] [Abstract][Full Text] [Related]
19. 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.
Wawrocka A; Sikora A; Kuszel L; Krawczynski MR
J Appl Genet; 2013 Aug; 54(3):345-51. PubMed ID: 23761016
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
