291 related articles for article (PubMed ID: 30167917)
1. Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease.
Yahalom C; Blumenfeld A; Hendler K; Wussuki-Lior O; Macarov M; Shohat M; Khateb S
Graefes Arch Clin Exp Ophthalmol; 2018 Nov; 256(11):2157-2164. PubMed ID: 30167917
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype.
Daruich A; Robert MP; Leroy C; DE Vergnes N; Beugnet C; Malan V; Valleix S; Bremond-Gignac D
Am J Ophthalmol; 2022 May; 237():122-129. PubMed ID: 34942114
[TBL] [Abstract][Full Text] [Related]
4. Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism.
Ehrenberg M; Bagdonite-Bejarano L; Fulton AB; Orenstein N; Yahalom C
Ophthalmic Genet; 2021 Jun; 42(3):243-251. PubMed ID: 33594928
[No Abstract] [Full Text] [Related]
5. Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.
Lin Y; Gao H; Zhu Y; Chen C; Li T; Liu B; Lyu C; Huang Y; Li H; Wu Q; Jin C; Liang X; Huang X; Lu L
Mol Med Rep; 2018 Nov; 18(5):4439-4445. PubMed ID: 30221735
[TBL] [Abstract][Full Text] [Related]
6. Analysis of genotype-phenotype correlations in
Vasilyeva TA; Marakhonov AV; Voskresenskaya AA; Kadyshev VV; Käsmann-Kellner B; Sukhanova NV; Katargina LA; Kutsev SI; Zinchenko RA
J Med Genet; 2021 Apr; 58(4):270-274. PubMed ID: 32467297
[TBL] [Abstract][Full Text] [Related]
7. PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
Lima Cunha D; Owen N; Tailor V; Corton M; Theodorou M; Moosajee M
Eur J Hum Genet; 2021 Feb; 29(2):349-355. PubMed ID: 33024313
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
Sannan NS; Gregory-Evans CY; Lyons CJ; Lehman AM; Langlois S; Warner SJ; Zakrzewski H; Gregory-Evans K
Can J Ophthalmol; 2017 Dec; 52(6):570-577. PubMed ID: 29217025
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Hereditary foveal hypoplasia - clinical differentiation].
Schroeder HW; Orth U; Meyer-König E; Gal A
Klin Monbl Augenheilkd; 2003 Aug; 220(8):559-62. PubMed ID: 12953159
[TBL] [Abstract][Full Text] [Related]
13. Mutation spectrum of
You B; Zhang X; Xu K; Xie Y; Ye H; Li Y
Mol Vis; 2020; 26():226-234. PubMed ID: 32214788
[TBL] [Abstract][Full Text] [Related]
14. Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y; Li S; Xiao X; Sun W; Zhang Q
Invest Ophthalmol Vis Sci; 2021 Aug; 62(10):23. PubMed ID: 34415986
[TBL] [Abstract][Full Text] [Related]
15. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Grønskov K; Rosenberg T; Sand A; Brøndum-Nielsen K
Eur J Hum Genet; 1999 Apr; 7(3):274-86. PubMed ID: 10234503
[TBL] [Abstract][Full Text] [Related]
16. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.
Sonoda S; Isashiki Y; Tabata Y; Kimura K; Kakiuchi T; Ohba N
Graefes Arch Clin Exp Ophthalmol; 2000 Jul; 238(7):552-8. PubMed ID: 10955655
[TBL] [Abstract][Full Text] [Related]
17. PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.
Khan AO; Aldahmesh MA
Ophthalmic Genet; 2008 Sep; 29(3):145-8. PubMed ID: 18766996
[TBL] [Abstract][Full Text] [Related]
18. Expanding the Phenotypic Spectrum of
Nieves-Moreno M; Noval S; Peralta J; Palomares-Bralo M; Del Pozo A; Garcia-Miñaur S; Santos-Simarro F; Vallespin E
Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065151
[TBL] [Abstract][Full Text] [Related]
19. Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Vasilyeva TA; Voskresenskaya AA; Käsmann-Kellner B; Khlebnikova OV; Pozdeyeva NA; Bayazutdinova GM; Kutsev SI; Ginter EK; Semina EV; Marakhonov AV; Zinchenko RA
Clin Genet; 2017 Dec; 92(6):639-644. PubMed ID: 28321846
[TBL] [Abstract][Full Text] [Related]
20. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
Kit V; Cunha DL; Hagag AM; Moosajee M
JCI Insight; 2021 Jul; 6(14):. PubMed ID: 34101622
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
