Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease 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 |
| Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. PloS one 2012 7 (10): e46742. Igo Robert P, Kopplin Laura J, Joseph Peronne, Truitt Barbara, Fondran Jeremy, Bardenstein David, Aldave Anthony J, Croasdale Christopher R, Price Marianne O, Rosenwasser Miriam, Lass Jonathan H, Iyengar Sudha K, |
| 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 |
| Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population. Journal of negative results in biomedicine 2015 14 10. Abu-Amero Khaled K, Helwa Inas, Al-Muammar Abdulrahman, Strickland Shelby, Hauser Michael A, Allingham R Rand, Liu Yut |
| 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 |
| Evidence against ZNF469 being causative for keratoconus in Polish patients. Acta ophthalmologica 2016 May 94 (3): 289-94. Karolak Justyna A, Gambin Tomasz, Rydzanicz Malgorzata, Szaflik Jacek P, Polakowski Piotr, Frajdenberg Agata, Mrugacz Malgorzata, Podfigurna-Musielak Monika, Stankiewicz Pawel, Gajecka Marze |
| Genetic associations for keratoconus: a systematic review and meta-analysis. Scientific reports 2017 Jul 7 (1): 4620. Rong Shi Song, Ma Sarah Tsz Ue, Yu Xin Ting, Ma Li, Chu Wai Kit, Chan Tommy Chung Yan, Wang Yu Meng, Young Alvin L, Pang Chi Pui, Jhanji Vishal, Chen Li J |
| Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus. Current eye research 2017 Jun 1-5. Yildiz Elvin, Bardak Handan, Gunay Murat, Bardak Yavuz, Imamoglu Serhat, Ozbas Halil, Bagci Ozk |
| Replication of SNP associations with keratoconus in a Czech cohort. PloS one 2017 12 (2): e0172365. Liskova Petra, Dudakova Lubica, Krepelova Anna, Klema Jiri, Hysi Pirro |
| 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 |
| 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 |
| Analyses of nicotine metabolism biomarker genetics stratified by sex in African and European Americans.
Scientific reports 2021 Oct 11 (1): 19572. Chenoweth Meghan J, Cox Lisa Sanderson, Nollen Nikki L, Ahluwalia Jasjit S, Benowitz Neal L, Lerman Caryn, Knight Jo, Tyndale Rachel |
| Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. The Journal of clinical endocrinology and metabolism 2022 3 107 (7): e3048-e3057. Oheim Ralf, Tsourdi Elena, Seefried Lothar, Beller Gisela, Schubach Max, Vettorazzi Eik, Stürznickel Julian, Rolvien Tim, Ehmke Nadja, Delsmann Alena, Genest Franca, Krüger Ulrike, Zemojtel Tomasz, Barvencik Florian, Schinke Thorsten, Jakob Franz, Hofbauer Lorenz C, Mundlos Stefan, Kornak U |
| Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer. JAMA network open 2022 Dec 5 (12): e2245836. Liu Ze-Xian, Zhang Xiao-Long, Zhao Qi, Chen Yungchang, Sheng Hui, He Cai-Yun, Sun Yu-Ting, Lai Ming-Yu, Wu Min-Qing, Zuo Zhi-Xiang, Wang Wei, Zhou Zhi-Wei, Wang Feng-Hua, Li Yu-Hong, Xu Rui-Hua, Qiu Miao-Zh |
| Targeted next-generation sequencing analysis in Italian patients with keratoconus. Eye (London, England) 2024 4 . Marco Lombardo, Umberto Camellin, Raffaella Gioia, Sebastiano Serrao, Vincenzo Scorcia, Anna Maria Roszkowska, Giuseppe Lombardo, Matteo Bertelli, Maria Chiara Medori, Danilo Alunni Fegatelli, Annarita Vestri, Rita Mencucci, Domenico Schiano Lomoriel |
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