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Year Number of Results
2011 1
2014 1
2016 2
2017 2
2018 6
2019 6
2020 2
2021 6
2022 5
2023 3
2024 1

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30 results

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Page 1
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: skalicka 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.
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P. Liu S, et al. Among authors: skalicka p. Acta Ophthalmol. 2023 Sep;101(6):679-686. doi: 10.1111/aos.15654. Epub 2023 Mar 7. Acta Ophthalmol. 2023. PMID: 36883248
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: skalicka p. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Dudakova L, Skalicka P, Davidson AE, Sadan AN, Chylova M, Jahnova H, Anteneova N, Tesarova M, Honzik T, Liskova P. Dudakova L, et al. Among authors: skalicka p. Genes (Basel). 2021 Nov 29;12(12):1918. doi: 10.3390/genes12121918. Genes (Basel). 2021. PMID: 34946867 Free PMC article.
Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Dudakova L, Tuft S, Cheong SS, Skalicka P, Jedlickova J, Fichtl M, Hlozanek M, Filous A, Vaneckova M, Vincent AL, Hardcastle AJ, Davidson AE, Liskova P. Dudakova L, et al. Among authors: skalicka p. Acta Ophthalmol. 2022 Jun;100(4):431-439. doi: 10.1111/aos.15022. Epub 2021 Oct 13. Acta Ophthalmol. 2022. PMID: 34644435 Free article.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Reis LM, et al. Among authors: skalicka p. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. doi: 10.1093/hmg/ddab142. Hum Mol Genet. 2021. PMID: 34046667 Free PMC article.
30 results