Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (01.03.2018)
Published in American journal of human genetics (01.03.2018)
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Journal Article
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.
Published in American journal of human genetics (07.01.2016)
Published in American journal of human genetics (07.01.2016)
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Journal Article
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene
Evans, Cerys J, Dudakova, Lubica, Skalicka, Pavlina, Mahelkova, Gabriela, Horinek, Ales, Hardcastle, Alison J, Tuft, Stephen J, Liskova, Petra
Published in BMC ophthalmology (17.09.2018)
Published in BMC ophthalmology (17.09.2018)
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Journal Article
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty
Skalicka, Pavlina, Dudakova, Lubica, Palos, Michalis, Huna, Lukas J., Evans, Cerys J., Mahelkova, Gabriela, Meliska, Martin, Stopka, Tomas, Tuft, Stephen, Liskova, Petra
Published in Acta ophthalmologica (Oxford, England) (01.11.2019)
Published in Acta ophthalmologica (Oxford, England) (01.11.2019)
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Journal Article
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy
Evans, Cerys J, Davidson, Alice E, Carnt, Nicole, Rojas López, Karla E, Veli, Neyme, Thaung, Caroline M, Tuft, Stephen J, Hardcastle, Alison J
Published in Investigative ophthalmology & visual science (01.10.2016)
Published in Investigative ophthalmology & visual science (01.10.2016)
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Journal Article
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
Dudakova, Lubica, Evans, Cerys J., Pontikos, Nikolas, Hafford-Tear, Nathaniel J., Malinka, Frantisek, Skalicka, Pavlina, Horinek, Ales, Munier, Francis L., Voide, Nathalie, Studeny, Pavel, Vanikova, Lucia, Kubena, Tomas, Rojas Lopez, Karla E., Davidson, Alice E., Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra
Published in Experimental eye research (01.05.2019)
Published in Experimental eye research (01.05.2019)
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Journal Article
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
Evans, Cerys J., Liskova, Petra, Dudakova, Lubica, Hrabcikova, Pavlina, Horinek, Ales, Jirsova, Katerina, Filipec, Martin, Hardcastle, Alison J., Davidson, Alice E., Tuft, Stephen J.
Published in Annals of human genetics (01.01.2015)
Published in Annals of human genetics (01.01.2015)
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Journal Article
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family
Morantes, Sara, Evans, Cerys J, Valencia, Ana V, Davidson, Alice E, Hardcastle, Alison J, Ruiz Linares, Andrés, Tuft, Stephen J, Cuevas, Miguel
Published in Cornea (01.08.2016)
Published in Cornea (01.08.2016)
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Journal Article
Hereditary gelsolin amyloidosis – clinical symptoms and molecular genetic cause
Skalická, Pavlína, Ďuďáková, Lubica, Klímová, Aneta, Huňa, Lukáš, Evans, Cerys J., Forgáč, Martin, Ulmanová, Olga, Mečíř, Petr, Paleček, Tomáš, Bednářová, Vladimíra, Skovajsa, Vojtěch, Sklalníková, Vladimíra, Lišková, Petra
Published in Česká a Slovenská neurologie a neurochirurgie (31.10.2021)
Published in Česká a Slovenská neurologie a neurochirurgie (31.10.2021)
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Journal Article
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3: Novel ZEB1 Mutations in PPCD3
Evans, Cerys J., Liskova, Petra, Dudakova, Lubica, Hrabcikova, Pavlina, Horinek, Ales, Jirsova, Katerina, Filipec, Martin, Hardcastle, Alison J., Davidson, Alice E., Tuft, Stephen J.
Published in Annals of human genetics (01.01.2015)
Published in Annals of human genetics (01.01.2015)
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Journal Article