Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and ZNF469[original query] |
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Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
PLoS genetics 2010 May 6 (5): e1000947. Lu Yi, Dimasi David P, Hysi Pirro G, Hewitt Alex W, Burdon Kathryn P, Toh Tze'Yo, Ruddle Jonathan B, Li Yi Ju, Mitchell Paul, Healey Paul R, Montgomery Grant W, Hansell Narelle, Spector Timothy D, Martin Nicholas G, Young Terri L, Hammond Christopher J, Macgregor Stuart, Craig Jamie E, Mackey David |
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Human genetics 2012 Nov 131 (11): 1783-93. Hoehn René, Zeller Tanja, Verhoeven Virginie J M, Grus Franz, Adler Max, Wolfs Roger C, Uitterlinden André G, Castagne Raphaële, Schillert Arne, Klaver Caroline C W, Pfeiffer Norbert, Mirshahi Alire |
Mutations in the zinc finger protein gene, ZNF469, contribute to the pathogenesis of keratoconus. Investigative ophthalmology & visual science 2014 Sep 55 (9): 5629-35. Vincent Andrea L, Jordan Charlotte A, Cadzow Murray J, Merriman Tony R, McGhee Charles |
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Human molecular genetics 2014 Oct 23 (20): 5527-35. Lechner Judith, Porter Louise F, Rice Aine, Vitart Veronique, Armstrong David J, Schorderet Daniel F, Munier Francis L, Wright Alan F, Inglehearn Chris F, Black Graeme C, Simpson David A, Manson Forbes, Willoughby Colin |
Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus. Investigative ophthalmology & visual science 2015 1 56 (1): 578-86. Davidson Alice E, Borasio Edmondo, Liskova Petra, Khan Arif O, Hassan Hala, Cheetham Michael E, Plagnol Vincent, Alkuraya Fowzan S, Tuft Stephen J, Hardcastle Alison |
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent. Investigative ophthalmology & visual science 2017 Dec 58 (14): 6248-6256. Lucas Sionne E M, Zhou Tiger, Blackburn Nicholas B, Mills Richard A, Ellis Jonathan, Leo Paul, Souzeau Emmanuelle, Ridge Bronwyn, Charlesworth Jac C, Brown Matthew A, Lindsay Richard, Craig Jamie E, Burdon Kathryn |
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations. Cornea 2019 5 38 (8): 1033-1039. Zhang Wenlin, Margines J Ben, Jacobs Deborah S, Rabinowitz Yaron S, Hanser Evelyn Maryam, Chauhan Tulika, Chung Doug, Bykhovskaya Yelena, Gaster Ronald N, Aldave Anthony |
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. European journal of human genetics : EJHG 2021 3 29 (12): 1745-1755. Fransen Erik, Valgaeren Hanne, Janssens Katleen, Sommen Manou, De Ridder Raphael, Vandeweyer Geert, Bisceglia Luigi, Soler Vincent, Hoischen Alexander, Mortier Geert, Malecaze François, Koppen Carina, Van Camp G |
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- Page last updated:Apr 22, 2024
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