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4. Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene. Evans CJ; Dudakova L; Skalicka P; Mahelkova G; Horinek A; Hardcastle AJ; Tuft SJ; Liskova P BMC Ophthalmol; 2018 Sep; 18(1):250. PubMed ID: 30223810 [TBL] [Abstract][Full Text] [Related]
5. Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. Sarosiak A; Udziela M; Ścieżyńska A; Oziębło D; Wawrzynowska A; Szaflik JP; Ołdak M Graefes Arch Clin Exp Ophthalmol; 2018 Nov; 256(11):2127-2134. PubMed ID: 30084067 [TBL] [Abstract][Full Text] [Related]
6. A case of Schnyder corneal dystrophy with crystals. Rittenbach TL Optom Vis Sci; 2013 Dec; 90(12):e301-4. PubMed ID: 24121409 [TBL] [Abstract][Full Text] [Related]
7. High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health. Sarosiak A; Oziębło D; Udziela M; Vermeer C; Malejczyk J; Szaflik JP; Ołdak M Acta Ophthalmol; 2021 Mar; 99(2):e171-e177. PubMed ID: 32602245 [TBL] [Abstract][Full Text] [Related]
8. [Schnyder corneal dystrophy and juvenile, systemic hypercholesteremia]. Kohnen T; Pelton RW; Jones DB Klin Monbl Augenheilkd; 1997 Aug; 211(2):135-7. PubMed ID: 9379642 [TBL] [Abstract][Full Text] [Related]
9. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy. Nickerson ML; Kostiha BN; Brandt W; Fredericks W; Xu KP; Yu FS; Gold B; Chodosh J; Goldberg M; Lu DW; Yamada M; Tervo TM; Grutzmacher R; Croasdale C; Hoeltzenbein M; Sutphin J; Malkowicz SB; Wessjohann L; Kruth HS; Dean M; Weiss JS PLoS One; 2010 May; 5(5):e10760. PubMed ID: 20505825 [TBL] [Abstract][Full Text] [Related]
10. Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature. Weiss JS Ophthalmology; 1996 Mar; 103(3):465-73. PubMed ID: 8600424 [TBL] [Abstract][Full Text] [Related]
11. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Weiss JS; Wiaux C; Yellore V; Raber I; Eagle R; Mequio M; Aldave A Cornea; 2010 Jul; 29(7):777-80. PubMed ID: 20489584 [TBL] [Abstract][Full Text] [Related]
12. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Jing Y; Liu C; Xu J; Wang L Mol Vis; 2009 Jul; 15():1463-9. PubMed ID: 19649163 [TBL] [Abstract][Full Text] [Related]
13. A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation. Dong F; Jin X; Boettler MA; Sciulli H; Abu-Asab M; Del Greco C; Wang S; Hu YC; Campos MM; Jackson SN; Muller L; Woods AS; Combs CA; Zhang J; Nickerson ML; Kruth HS; Weiss JS; Kao WW Sci Rep; 2018 Jul; 8(1):10219. PubMed ID: 29977031 [TBL] [Abstract][Full Text] [Related]
14. Histological landmarks in corneal dystrophy: pathology of corneal dystrophies. Vemuganti GK; Rathi VM; Murthy SI Dev Ophthalmol; 2011; 48():24-50. PubMed ID: 21540630 [TBL] [Abstract][Full Text] [Related]
16. Clinical and para-clinical description of a novel mutation for Schnyder dystrophy in a French family. Gonzalvez M; Ho Wang Yin G; Gascon P; Denis D; Hoffart L J Fr Ophtalmol; 2018 Dec; 41(10):920-925. PubMed ID: 30446344 [TBL] [Abstract][Full Text] [Related]
17. In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. Vesaluoma MH; Linna TU; Sankila EM; Weiss JS; Tervo TM Ophthalmology; 1999 May; 106(5):944-51. PubMed ID: 10328394 [TBL] [Abstract][Full Text] [Related]
18. Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty. Skalicka P; Dudakova L; Palos M; Huna LJ; Evans CJ; Mahelkova G; Meliska M; Stopka T; Tuft S; Liskova P Acta Ophthalmol; 2019 Nov; 97(7):e987-e992. PubMed ID: 31044553 [TBL] [Abstract][Full Text] [Related]
19. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Weiss JS; Kruth HS; Kuivaniemi H; Tromp G; Karkera J; Mahurkar S; Lisch W; Dupps WJ; White PS; Winters RS; Kim C; Rapuano CJ; Sutphin J; Reidy J; Hu FR; Lu DW; Ebenezer N; Nickerson ML Am J Med Genet A; 2008 Feb; 146A(3):271-83. PubMed ID: 18176953 [TBL] [Abstract][Full Text] [Related]
20. Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase. Jiang SY; Tang JJ; Xiao X; Qi W; Wu S; Jiang C; Hong J; Xu J; Song BL; Luo J PLoS Genet; 2019 Jul; 15(7):e1008289. PubMed ID: 31323021 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]