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Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: liskova p. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.
PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.
Vergaro A, Rezková L, Fichtl M, Jedličková J, Ďuďáková Ľ, Růžičková E, Lišková P. Vergaro A, et al. Among authors: liskova p. Cesk Slov Oftalmol. 2022 Summer;78(5):242-248. doi: 10.31348/2022/25. Cesk Slov Oftalmol. 2022. PMID: 36220364 Free article. English.
[Retinitis pigmentosa mimicking uveitis. A case report].
Szabó E, Brichová M, Lišková P, Svozílková P, Ríhová E. Szabó E, et al. Among authors: liskova p. Cesk Slov Oftalmol. 2013 Mar;69(1):32-6. Cesk Slov Oftalmol. 2013. PMID: 23822599 Free article. Czech.
[Collagen in the human cornea--types, location and role].
Jirsová K, Merjavá S, Lisková P. Jirsová K, et al. Among authors: liskova p. Cesk Slov Oftalmol. 2008 Jul;64(4):167-70. Cesk Slov Oftalmol. 2008. PMID: 18780658 Review. Czech. No abstract available.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. Black GC, et al. Among authors: liskova p. Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x. Orphanet J Rare Dis. 2021. PMID: 33743793 Free PMC article.
140 results