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Results for
""Aniridia""[mesh_terms]

5 Results

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Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Stefania Magri, Chiara Pantaleoni, Daniela Di Bella, Franco Taroni, Stefano D'Arrigo, Claudia Ciaccio, Matilde Taddei, Marina Grisoli

Cerebellum (London, England) 2024;23(6):2655-2670

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Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia.

Robert Ihnatko, Ulla Edén, Neil Lagali, Anette Dellby, Per Fagerholm

Journal of proteomics 2014;94():78-88

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Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.

Lorenz Latta, Fabian N Fries, Berthold Seitz, Barbara Käsmann-Kellner, Priya Katiyar, Tanja Stachon, Frederika Parow, Myriam Ulrich, Achim Langenbucher, Alan Cayless, Nóra Szentmáry

Experimental eye research 2022;215():108904

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

Marco Castori, Luana Barboni, Philippa J Duncan, Mauro Paradisi, Luigi Laino, Carmelilia De Bernardo, David O Robinson, Paola Grammatico

American journal of medical genetics. Part A 2009;149A(8):1768-72

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Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model.

Barbara Käsmann-Kellner, Berthold Seitz, Lorenz Latta, Karl Nordström, Tanja Stachon, Achim Langenbucher, Fabian N Fries, Nóra Szentmáry

Experimental eye research 2019;179():8-17

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Results for ""Aniridia""[mesh_terms]

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.

Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia.

Decreased FABP5 and DSG1 protein expression following PAX6 knockdown of differentiated human limbal epithelial cells.

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.

Expression of retinoic acid signaling components ADH7 and ALDH1A1 is reduced in aniridia limbal epithelial cells and a siRNA primary cell based aniridia model.

Results for
""Aniridia""[mesh_terms]