229 related articles for article (PubMed ID: 30985247)
21. PAX6 3' deletion in a family with aniridia.
Wawrocka A; Budny B; Debicki S; Jamsheer A; Sowinska A; Krawczynski MR
Ophthalmic Genet; 2012 Mar; 33(1):44-8. PubMed ID: 21985185
[TBL] [Abstract][Full Text] [Related]
22. Novel variants in the PAX6 gene related to isolated aniridia.
Kuchalska K; Wawrocka A; Krawczynski MR
Congenit Anom (Kyoto); 2023 Jul; 63(4):109-115. PubMed ID: 37191119
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
Xiao X; Li S; Zhang Q
Ophthalmic Genet; 2012 Jun; 33(2):119-21. PubMed ID: 22171686
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.
Cao X; Zhou XM; Gan R; Jiang LQ; Lu L; Wang Y; Fan N; Yin Y; Yan NH; Yu WH; Liu XY
Genet Mol Res; 2014 Oct; 13(4):8679-85. PubMed ID: 25366758
[TBL] [Abstract][Full Text] [Related]
27. The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.
Pedersen HR; Neitz M; Gilson SJ; Landsend ECS; Utheim ØA; Utheim TP; Baraas RC
Ophthalmol Retina; 2019 Jun; 3(6):523-534. PubMed ID: 31174676
[TBL] [Abstract][Full Text] [Related]
28. Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in
Goolam S; Carstens N; Ross M; Bentley D; Lopes M; Peden J; Kingsbury Z; Tsogka E; Barlow R; Carmichael TR; Ramsay M; Williams SE
Mol Vis; 2018; 24():407-413. PubMed ID: 29930474
[TBL] [Abstract][Full Text] [Related]
29. Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia.
Miao Q; Ping X; Tang X; Zhang L; Zhang X; Cheng Y; Shentu X
Gene; 2017 Sep; 630():44-48. PubMed ID: 28760551
[TBL] [Abstract][Full Text] [Related]
30. Familial peripheral keratopathy without PAX6 mutation.
Smith WM; Lange JM; Sturm AC; Tanner SM; Mauger TF
Cornea; 2012 Feb; 31(2):130-3. PubMed ID: 22146551
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.
Pedersen HR; Baraas RC; Landsend ECS; Utheim ØA; Utheim TP; Gilson SJ; Neitz M
Invest Ophthalmol Vis Sci; 2020 May; 61(5):14. PubMed ID: 32396632
[TBL] [Abstract][Full Text] [Related]
33. Novel mutations of the
Nguyen HH; Pham CM; Nguyen HTT; Vu NP; Duong TT; Nguyen TD; Nguyen BD; Nguyen HV; Nong HV
Mol Vis; 2021; 27():555-563. PubMed ID: 34566401
[TBL] [Abstract][Full Text] [Related]
34. A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.
Wang Q; Wei WB; Shi XY; Rong WN
BMC Med Genomics; 2023 Aug; 16(1):182. PubMed ID: 37542296
[TBL] [Abstract][Full Text] [Related]
35. A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.
Yu Y; Jia H; Ma Q; Zhang R; Jiao Y
BMC Ophthalmol; 2023 Aug; 23(1):349. PubMed ID: 37553561
[TBL] [Abstract][Full Text] [Related]
36. Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia.
Kim WJ; Kim JH; Cho NC
Indian J Ophthalmol; 2017 Jan; 65(1):55-56. PubMed ID: 28300742
[TBL] [Abstract][Full Text] [Related]
37. A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.
Qian T; Chen C; Li C; Gong Q; Liu K; Wang G; Schrauwen I; Xu X
BMC Ophthalmol; 2021 Oct; 21(1):353. PubMed ID: 34610801
[TBL] [Abstract][Full Text] [Related]
38. Identification of a novel PAX6 mutation in a Chinese family with aniridia.
Qiu JJ; Zhang Q; Geng ZX; Liu M; Zhong ZL; Chen JJ; Liu F
BMC Ophthalmol; 2019 Jan; 19(1):10. PubMed ID: 30621664
[TBL] [Abstract][Full Text] [Related]
39. Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.
Primignani P; Allegrini D; Manfredini E; Romitti L; Mauri L; Patrosso MC; Veniani E; Franzoni A; Del Longo A; Gesu GP; Piozzi E; Damante G; Penco S
Ophthalmic Genet; 2016 Sep; 37(3):307-13. PubMed ID: 26849621
[TBL] [Abstract][Full Text] [Related]
40. Human aniridia limbal epithelial cells lack expression of keratins K3 and K12.
Latta L; Viestenz A; Stachon T; Colanesi S; Szentmáry N; Seitz B; Käsmann-Kellner B
Exp Eye Res; 2018 Feb; 167():100-109. PubMed ID: 29162348
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]