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Year Number of Results
1985 1
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2008 2
2009 1
2010 2
2012 1
2013 1
2014 1
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2016 1
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2019 3
2020 2
2021 1
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Page 1
CUGC for posterior polymorphous corneal dystrophy (PPCD).
Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P. Davidson AE, et al. Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14. Eur J Hum Genet. 2020. PMID: 31201376 Free PMC article.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives....
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL …
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P. Dudakova L, et al. Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7. Exp Eye Res. 2019. PMID: 30851240
These findings contribute to our understanding of PPCD3, for which currently, 49 pathogenic variants have been identified, all of which are predicted to be null alleles....
These findings contribute to our understanding of PPCD3, for which currently, 49 pathogenic variants have been identified, all of which are …
Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.
Hosseini SM, Herd S, Vincent AL, Héon E. Hosseini SM, et al. Mol Vis. 2008 Jan 16;14:71-80. Mol Vis. 2008. PMID: 18253095 Free PMC article.
Mutation analysis of the PPCD1-linked families did not reveal any mutations in the full genomic sequence of VSX1 (considering all splice variants) or in the six cis- regulatory modules predicted in the vicinity of VSX1 (100 kb). CONCLUSIONS: This is the first documentation …
Mutation analysis of the PPCD1-linked families did not reveal any mutations in the full genomic sequence of VSX1 (considering all splice var …
Corneal pseudoectasia: a case series.
Chorny A, Gershoni A, Mahler O, Sorkin N, Nahum Y, Sella R, Bahar I, Livny E. Chorny A, et al. Int Ophthalmol. 2024 Feb 7;44(1):17. doi: 10.1007/s10792-024-02992-3. Int Ophthalmol. 2024. PMID: 38321320
The comprehensive ophthalmologist should be aware of such cases as they may substantially alter the treatment course and prognosis of these patients....
The comprehensive ophthalmologist should be aware of such cases as they may substantially alter the treatment course and prognosis …
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ. Chung DW, et al. Invest Ophthalmol Vis Sci. 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. Invest Ophthalmol Vis Sci. 2014. PMID: 25190660 Free PMC article.
Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 kilodaltons. The two largest mutant proteins that lacked a putative nuclear localization signal (NLS), p....
Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 ki …
Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis.
Krachmer JH. Krachmer JH. Trans Am Ophthalmol Soc. 1985;83:413-75. Trans Am Ophthalmol Soc. 1985. PMID: 3914130 Free PMC article.
These include a multilaminar pattern, desmosomal junctions, microvillous projections, cytoplasmic keratin, sparse mitochondria, and rapid growth in tissue culture. These cells appear to determine the management and prognosis of patients with PPMD undergoing surgery. Twenty …
These include a multilaminar pattern, desmosomal junctions, microvillous projections, cytoplasmic keratin, sparse mitochondria, and rapid gr …
19 results