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Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE. Zarouchlioti C, et al. Among authors: hysi p. Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8. Am J Hum Genet. 2018. PMID: 29526280 Free PMC article.
Molecular analysis of the VSX1 gene in familial keratoconus.
Liskova P, Ebenezer ND, Hysi PG, Gwilliam R, El-Ashry MF, Moodaley LC, Hau S, Twa M, Tuft SJ, Bhatacharya SS. Liskova P, et al. Among authors: hysi pg. Mol Vis. 2007 Oct 4;13:1887-91. Mol Vis. 2007. PMID: 17960127 Free PMC article.
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Davidson AE, et al. PLoS One. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014. PLoS One. 2014. PMID: 25093588 Free PMC article.
Replication of SNP associations with keratoconus in a Czech cohort.
Liskova P, Dudakova L, Krepelova A, Klema J, Hysi PG. Liskova P, et al. Among authors: hysi pg. PLoS One. 2017 Feb 16;12(2):e0172365. doi: 10.1371/journal.pone.0172365. eCollection 2017. PLoS One. 2017. PMID: 28207827 Free PMC article.
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
Khawaja AP, Rojas Lopez KE, Hardcastle AJ, Hammond CJ, Liskova P, Davidson AE, Gore DM, Hafford Tear NJ, Pontikos N, Hayat S, Wareham N, Khaw KT, Tuft SJ, Foster PJ, Hysi PG. Khawaja AP, et al. Among authors: hysi pg. JAMA Ophthalmol. 2019 Sep 1;137(9):1005-1012. doi: 10.1001/jamaophthalmol.2019.2058. JAMA Ophthalmol. 2019. PMID: 31246245 Free PMC article.
253 results