Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Alice E Davidson"'
Autor:
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Publikováno v:
PLoS Genetics, Vol 20, Iss 5, p e1011230 (2024)
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-codi
Externí odkaz:
https://doaj.org/article/2483dcb3baf447028431d996808cd5cd
Autor:
Caroline Thaung, Alice E Davidson
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss 1 (2022)
Fuchs endothelial corneal dystrophy (FECD) was first described over a century ago. Since then, we have learnt much about its clinical manifestations, surgical and non-surgical treatment, microscopic appearance and pathogenesis. Over the past decade,
Externí odkaz:
https://doaj.org/article/d42aee452f554d829a657033c1882bfd
Autor:
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glauc
Externí odkaz:
https://doaj.org/article/15c887a1f0b749fc8219f95900909adc
Autor:
Nihar Bhattacharyya, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Niuzheng Chai, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
The predominant cause of Fuchs endothelial corneal dystrophy (FECD) is a CTG repeat expansion (termed CTG18.1) situated within an intron of the transcription factor encoding gene,TCF4. Here we use a primary FECD case-derived corneal endothelial cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31883af7f591ee1fe92d951d198a06c5
https://doi.org/10.1101/2023.03.29.534731
https://doi.org/10.1101/2023.03.29.534731
Autor:
Siyin Liu, Amanda N. Sadan, Kirithika Muthusamy, Christina Zarouchlioti, Jana Jedlickova, Nikolas Pontikos, Caroline Thaung, Alison J. Hardcastle, Magdalena Netukova, Pavlina Skalicka, Lubica Dudakova, Catey Bunce, Stephen J. Tuft, Alice E. Davidson, Petra Liskova
Publikováno v:
Acta Ophthalmologica.
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Autor:
Pavlina Skalicka, Jana Jedlickova, Ales Horinek, Marie Trkova, Alice E. Davidson, Stephen J. Tuft, Lubica Dudakova, Petra Liskova
Publikováno v:
Journal of Clinical Medicine; Volume 11; Issue 17; Pages: 5166
We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by a novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well as a molecular genetic investigation
Autor:
Petra Liskova, Nathaniel J. Hafford‐Tear, Pavlina Skalicka, Frantisek Malinka, Jana Jedlickova, Ľubica Ďuďáková, Nikolas Pontikos, Alice E Davidson, Stephen Tuft
Publikováno v:
Acta Ophthalmologica. 100
Posterior corneal vesicles (PCVs) have clinical features that are similar to posterior polymorphous corneal dystrophy (PPCD). To help determine whether there is a shared genetic basis, we screened 38 individuals with PCVs for changes in the three gen
Autor:
Marketa Tesarova, Pavlina Skalicka, Alice E. Davidson, Nicole Anteneova, Amanda N. Sadan, Monika Chylova, Petra Liskova, Tomas Honzik, Helena Jahnová, Lubica Dudakova
Publikováno v:
Genes
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)
Genes; Volume 12; Issue 12; Pages: 1918
Genes, Vol 12, Iss 1918, p 1918 (2021)
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA wa
Autor:
Alice E. Davidson, Manuela Vaneckova, Stephen J. Tuft, Jana Jedlickova, Martin Hlozanek, Marek Fichtl, Sek-Shir Cheong, Alison J. Hardcastle, Andrea L Vincent, Ales Filous, Lubica Dudakova, Petra Liskova, Pavlina Skalicka
Publikováno v:
Acta ophthalmologicaReferences. 100(4)
PURPOSE The aim of the study was to describe the phenotype and molecular genetic causes of X-linked megalocornea (MGC1). We recruited four British, one New Zealand, one Vietnamese and four Czech families. METHODS All probands and three female carrier