Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Macular Degeneration and PRPH2[original query] |
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Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. The British journal of ophthalmology 2016 Jan . Tiosano Liran, Grunin Michelle, Hagbi-Levi Shira, Banin Eyal, Averbukh Edward, Chowers It |
EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. Retina (Philadelphia, Pa.) 2018 Oct . Spaide Richard F, Yannuzzi Lawrence, Freund K Bailey, Mullins Robert, Stone Edw |
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. Investigative ophthalmology & visual science 2019 8 60 (10): 3388-3397. Charbel Issa Peter, Gliem Martin, Yusuf Imran H, Birtel Johannes, Müller Philipp L, Mangold Elisabeth, Downes Susan M, MacLaren Robert E, Betz Christian, Bolz Hanno |
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium. Ophthalmology 2020 Jul . de Breuk Anita, Acar Ilhan E, Kersten Eveline, Schijvenaars Mascha M V A P, Colijn Johanna M, Haer-Wigman Lonneke, Bakker Bjorn, de Jong Sarah, Meester-Smoor Magda A, Verzijden Timo, Missotten Tom O A R, Monés Jordi, Biarnés Marc, Pauleikhoff Daniel, Hense Hans W, Silva Rufino, Nunes Sandrina, Melo Joana B, Fauser Sascha, Hoyng Carel B, Ueffing Marius, Coenen Marieke J H, Klaver Caroline C W, den Hollander Anneke I, |
Genetic factors associated with age-related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease. Acta ophthalmologica 2020 Dec . Ula?czyk Zofia, Grabowicz Aleksandra, Mozolewska-Piotrowska Katarzyna, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, Krawczyk Mariusz, Sikora Piotr, Matczy?ska Ewa, Machali?ski Bogus?aw, Machali?ska An |
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy. JAMA ophthalmology 2021 Oct . de Breuk Anita, Heesterbeek Thomas J, Bakker Bjorn, Verzijden Timo, Lechanteur Yara T E, Klaver Caroline C W, den Hollander Anneke I, Hoyng Carel |
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. International journal of molecular sciences 2023 4 24 (7): . Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
Influence of Clinical and Genetic Factors on the Progression of Age-Related Macular Degeneration: A 3-Year Follow-Up. Journal of clinical medicine 2023 3 12 (5): . Krytkowska El?bieta, Ula?czyk Zofia, Grabowicz Aleksandra, Safranow Krzysztof, Kawa Mi?osz Piotr, Pa?ucha Andrzej, W?sowska Anna, Matczy?ska Ewa, Boguszewska-Chachulska Anna, Machali?ska An |
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