scholarly journals Schnyder corneal dystrophy

2020 ◽  
Author(s):  
Keyword(s):  
Corneal Dystrophy ◽  
Schnyder Corneal Dystrophy

Panstromal Schnyder Corneal Dystrophy

Ophthalmology ◽  
1994 ◽  
Vol 101 (5) ◽  
pp. 895-901 ◽  
Author(s):  
Martin McCarthy ◽  
Sheila Innis ◽  
Paul Dubord ◽  
Valerie White
Keyword(s):  
Corneal Dystrophy ◽  
Schnyder Corneal Dystrophy

scholarly journals Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Cerys J. Evans ◽  
Lubica Dudakova ◽  
Pavlina Skalicka ◽  
Gabriela Mahelkova ◽  
Ales Horinek ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Recurrent Mutations ◽  
Schnyder Corneal Dystrophy

scholarly journals Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase

PLoS Genetics ◽  
2019 ◽  
Vol 15 (7) ◽  
pp. e1008289 ◽  
Author(s):  
Shi-You Jiang ◽  
Jing-Jie Tang ◽  
Xu Xiao ◽  
Wei Qi ◽  
Suqian Wu ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Cholesterol Accumulation ◽  
Hmg Coa Reductase ◽  
Coa Reductase ◽  
Schnyder Corneal Dystrophy

scholarly journals A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Fei Dong ◽  
Xueting Jin ◽  
Michelle A. Boettler ◽  
Harrison Sciulli ◽  
Mones Abu-Asab ◽  
...  
Keyword(s):  
Mouse Model ◽  
Point Mutation ◽  
Corneal Dystrophy ◽  
Schnyder Corneal Dystrophy

scholarly journals Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

2018 ◽  
Vol 256 (11) ◽  
pp. 2127-2134 ◽  
Author(s):  
Anna Sarosiak ◽  
Monika Udziela ◽  
Aneta Ścieżyńska ◽  
Dominika Oziębło ◽  
Anna Wawrzynowska ◽  
...  
Keyword(s):  
Corneal Dystrophy ◽  
Pathogenic Variants ◽  
Schnyder Corneal Dystrophy

scholarly journals Clinical and pathological features of a non-crystalline form of Schnyder corneal dystrophy

2012 ◽  
Vol 250 (8) ◽  
pp. 1241-1243 ◽  
Author(s):  
Nicole Arnold-Wörner ◽  
David Goldblum ◽  
André R. Miserez ◽  
Josef Flammer ◽  
Peter Meyer
Keyword(s):  
Corneal Dystrophy ◽  
Crystalline Form ◽  
Pathological Features ◽  
Schnyder Corneal Dystrophy ◽  
Clinical And Pathological Features

scholarly journals Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

Cornea ◽  
2019 ◽  
Vol 38 (6) ◽  
pp. 758-760
Author(s):  
Lubica Dudakova ◽  
Pavlina Skalicka ◽  
Alice E. Davidson ◽  
Petra Liskova
Keyword(s):  
Corneal Dystrophy ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
Schnyder Corneal Dystrophy ◽  
Type 3
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