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2. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. Ophthalmology; 2004 Apr; 111(4):828-36. PubMed ID: 15051220 [Abstract] [Full Text] [Related]
3. Investigating the Pathogenicity of VSX1 Missense Mutations and Their Association With Corneal Disease. Litke AM, Samuelson S, Delaney KR, Sauvé Y, Chow RL. Invest Ophthalmol Vis Sci; 2018 Dec 03; 59(15):5824-5835. PubMed ID: 30535423 [Abstract] [Full Text] [Related]
4. VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. Bisceglia L, Ciaschetti M, De Bonis P, Campo PA, Pizzicoli C, Scala C, Grifa M, Ciavarella P, Delle Noci N, Vaira F, Macaluso C, Zelante L. Invest Ophthalmol Vis Sci; 2005 Jan 03; 46(1):39-45. PubMed ID: 15623752 [Abstract] [Full Text] [Related]
5. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, Le Gargasson JF, Delpech M. Invest Ophthalmol Vis Sci; 2006 Jan 03; 47(1):48-54. PubMed ID: 16384943 [Abstract] [Full Text] [Related]
6. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND. Invest Ophthalmol Vis Sci; 2005 Dec 03; 46(12):4480-4. PubMed ID: 16303937 [Abstract] [Full Text] [Related]
7. Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus. Lam HY, Wiggs JL, Jurkunas UV. Cornea; 2010 Oct 03; 29(10):1180-5. PubMed ID: 20567203 [Abstract] [Full Text] [Related]
8. The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation? Eran P, Almogit A, David Z, Wolf HR, Hana G, Yaniv B, Elon P, Isaac A. Ophthalmic Genet; 2008 Jun 03; 29(2):53-9. PubMed ID: 18484309 [Abstract] [Full Text] [Related]
9. Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant. Vincent AL, Jordan C, Sheck L, Niederer R, Patel DV, McGhee CN. Mol Vis; 2013 Jun 03; 19():852-60. PubMed ID: 23592923 [Abstract] [Full Text] [Related]
10. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Cornea; 2008 Feb 03; 27(2):189-92. PubMed ID: 18216574 [Abstract] [Full Text] [Related]
11. No VSX1 gene mutations associated with keratoconus. Aldave AJ, Yellore VS, Salem AK, Yoo GL, Rayner SA, Yang H, Tang GY, Piconell Y, Rabinowitz YS. Invest Ophthalmol Vis Sci; 2006 Jul 03; 47(7):2820-2. PubMed ID: 16799019 [Abstract] [Full Text] [Related]
12. Confocal microscopy identification of keratoconus associated with posterior polymorphous corneal dystrophy. Mazzotta C, Baiocchi S, Caporossi O, Buccoliero D, Casprini F, Caporossi A, Balestrazzi A. J Cataract Refract Surg; 2008 Feb 03; 34(2):318-21. PubMed ID: 18242460 [Abstract] [Full Text] [Related]
13. [Keratotorus in Norrie disease]. Lang GE, Rott HD, Naumann GO. Klin Monbl Augenheilkd; 1991 Aug 03; 199(2):110-3. PubMed ID: 1960930 [Abstract] [Full Text] [Related]
14. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Hosseini SM, Herd S, Vincent AL, Héon E. Mol Vis; 2008 Jan 16; 14():71-80. PubMed ID: 18253095 [Abstract] [Full Text] [Related]
15. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. Hum Mol Genet; 2002 May 01; 11(9):1029-36. PubMed ID: 11978762 [Abstract] [Full Text] [Related]
16. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Cornea; 2010 Feb 01; 29(2):172-6. PubMed ID: 20023586 [Abstract] [Full Text] [Related]
17. Contributions of VSX1 gene to keratoconus. Kalasidou G, Frydas I, Kozei A, Syrmakesi P, Loukovitis E, Sfakianakis K, Balidis M, Zachariadis Z, Tranos P, Kozeis N, Anogeianakis G. J Biol Regul Homeost Agents; 2018 Feb 01; 32(6):1515-1518. PubMed ID: 30574758 [Abstract] [Full Text] [Related]
18. Absence of significant genetic alterations in the VSX1, SOD1, TIMP3, and LOX genes in Brazilian patients with Keratoconus. Lopes AG, de Almeida GC, Miola MP, Teixeira RM, Pires FCBL, Miani RA, de Mattos LC, Brandão CC, Castiglioni L. Ophthalmic Genet; 2022 Feb 01; 43(1):73-79. PubMed ID: 34802378 [Abstract] [Full Text] [Related]
19. Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method. Dehkordi FA, Rashki A, Bagheri N, Chaleshtori MH, Memarzadeh E, Salehi A, Ghatreh H, Zandi F, Yazdanpanahi N, Tabatabaiefar MA, Chaleshtori MH. Acta Cytol; 2013 Feb 01; 57(6):646-51. PubMed ID: 24107477 [Abstract] [Full Text] [Related]
20. VSX1 gene and keratoconus: genetic analysis in Korean patients. Jeoung JW, Kim MK, Park SS, Kim SY, Ko HS, Wee WR, Lee JH. Cornea; 2012 Jul 01; 31(7):746-50. PubMed ID: 22531431 [Abstract] [Full Text] [Related] Page: [Next] [New Search]