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Page 1
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE. Bhattacharyya N, et al. Among authors: jedlickova j. PLoS Genet. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230. eCollection 2024 May. PLoS Genet. 2024. PMID: 38713708 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: jedlickova j. Acta Ophthalmol. 2022 Jun;100(4):431-439. doi: 10.1111/aos.15022. Epub 2021 Oct 13. Acta Ophthalmol. 2022. PMID: 34644435 Free article.
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: jedlickova j. 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.
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: jedlickova j. Acta Ophthalmol. 2023 Sep;101(6):679-686. doi: 10.1111/aos.15654. Epub 2023 Mar 7. Acta Ophthalmol. 2023. PMID: 36883248 Free article.
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
Brichova M, Klimova A, Heissigerova J, Svozilkova P, Vaneckova M, Dolezalova P, Nemcova D, Michalickova M, Jedlickova J, Dudakova L, Liskova P. Brichova M, et al. Among authors: jedlickova j. Genes (Basel). 2024 Jun 18;15(6):799. doi: 10.3390/genes15060799. Genes (Basel). 2024. PMID: 38927735 Free PMC 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: jedlickova j. Cesk Slov Oftalmol. 2022 Summer;78(5):242-248. doi: 10.31348/2022/25. Cesk Slov Oftalmol. 2022. PMID: 36220364 Free article. English.
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