Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 55 Records) |
Query Trace: Macular Degeneration and CFI[original query] |
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Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration. Investigative ophthalmology & visual science 2017 Mar 58 (3): 1570-1576. Tan Perciliz L, Garrett Melanie E, Willer Jason R, Campochiaro Peter A, Campochiaro Betsy, Zack Donald J, Ashley-Koch Allison E, Katsanis Nichol |
Interactions among different genetic loci in age-related macular degeneration. Ophthalmic genetics 2017 11 39 (2): 189-193. Bonyadi Mortaza, Jabbarpoor Bonyadi Mohammad Hossein, Yaseri Mehdi, Soheilian Maso |
Natural History of Drusenoid Pigment Epithelial Detachment Associated with Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report No. 17. Ophthalmology 2018 Aug . Yu Jeannette J, Agrón Elvira, Clemons Traci E, Domalpally Amitha, van Asten Freekje, Keenan Tiarnan D, Cukras Catherine, Chew Emily Y, |
Geographic distribution of rare variants associated with age-related macular degeneration. Molecular vision 2018 24 75-82. Geerlings Maartje J, Kersten Eveline, Groenewoud Joannes M M, Fritsche Lars G, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke |
Association of polymorphisms of complement factor I rs141853578 (G119R) with age-related macular degeneration in Iranian population. International ophthalmology 2018 Feb . Bonyadi Mortaza, Norouzi Neda, Babaei Esmaeil, Jabbarpoor Bonyadi Mohammad Hossein, Javadzadeh Alireza, Yaseri Mehdi, Soheilian Maso |
Enabling genome-wide association testing with multiple diseases and no healthy controls. Gene 2018 10 684 118-123. Tom Jennifer, Chang Diana, Wuster Art, Mukhyala Kiran, Cuenco Karen, Cowgill Amy, Vogel Jan, Reeder Jens, Yaspan Brian, Hunkapiller Julie, Brauer Matt, Behrens Tim, Forrest William, Bhangale Tush |
Do age-related macular degeneration genes show association with keratoconus? Eye and vision (London, England) 2019 6 38. Cao Ke, Sahebjada Srujana, Richardson Andrea J, Baird Paul |
Haplotypes of HTRA1 rs1120638, TIMP3 rs9621532, VEGFA rs833068, CFI rs10033900, ERCC6 rs3793784, and KCTD10 rs56209061 Gene Polymorphisms in Age-Related Macular Degeneration. Disease markers 2019 2019 9602949. Liutkeviciene Rasa, Vilkeviciute Alvita, Gedvilaite Greta, Kaikaryte Kriste, Kriauciuniene Lore |
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration. Genes 2019 10 10 (10): . Shoshany Nadav, Weiner Chen, Safir Margarita, Einan-Lifshitz Adi, Pokroy Russell, Kol Ayala, Modai Shira, Shomron Noam, Pras Er |
Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2019 Oct 1-8. Bezci Aygun Figen, Kaday?fc?lar Sibel, Ozgul R?za Koksal, Eldem Bo |
Properdin Modulates Complement Component Production in Stressed Human Primary Retinal Pigment Epithelium Cells. Antioxidants (Basel, Switzerland) 2020 8 9 (9): . Schäfer Nicole, Wolf Hannah N, Enzbrenner Anne, Schikora Juliane, Reichenthaler Maria, Enzmann Volker, Pauly Dia |
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, |
Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD. European journal of ophthalmology 2020 6 31 (3): 1281-1290. Lee Daniel, Chan Clement K, Abraham Prema, Sarraf Dav |
Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration. Investigative ophthalmology & visual science 2020 Jun 61 (6): 18. Hallam Thomas M, Marchbank Kevin J, Harris Claire L, Osmond Clive, Shuttleworth Victoria G, Griffiths Helen, Cree Angela J, Kavanagh David, Lotery Andrew |
Genetic and environmental risk factors for extramacular drusen. Molecular vision 2020 26 661-669. Altay Lebriz, Subiras Xavier, Lorés de Motta Laura, Schick Tina, Berghold Aileen, Hoyng Carel B, den Hollander Anneke I, Fauser Sascha, Sadda Srinivas R, Liakopoulos Sand |
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy. Human mutation 2021 6 42 (9): 1139-1152. Khan Adnan H, Sutton Janice, Cree Angela J, Khandhadia Samir, De Salvo Gabriella, Tobin John, Prakash Priya, Arora Rashi, Amoaku Winfried, Charbel Issa Peter, MacLaren Robert E, Bishop Paul N, Peto Tunde, Mohamed Quresh, Steel David H, Sivaprasad Sobha, Bailey Clare, Menon Geeta, Kavanagh David, Lotery Andrew |
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 |
An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access. PloS one 2022 9 17 (9): e0272260. Jones Amy V, Curtiss Darin, Harris Claire, Southerington Tom, Hautalahti Marco, Wihuri Pauli, Mäkelä Johanna, Kallionpää Roosa E, Makkonen Enni, Knopp Theresa, Mannermaa Arto, Mäkinen Erna, Moilanen Anne-Mari, Tezel Tongalp H, , Waheed Nadia |
Characterization of polymorphisms in CFI and ARMS genes and their association with exudative age-related macular degeneration in Algerian patients. Molecular biology research communications 2022 9 11 (2): 105-111. Abid Ghania, Messal Ahlem, Harmel Mohammed, Idder Aicha, Fodil Mostefa, Zemani-Fodil Faouz |
Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization.
Ophthalmology science 2022 Jun 2 (2): . Jones Amy V, MacGregor Stuart, Han Xikun, Francis James, Harris Claire, , Kavanagh David, Lotery Andrew, Waheed Nad |
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene. Stem cell research 2022 5 62 102796. de Jong Sarah, Koolen Louet, Vázquez-Domínguez Irene, de Breuk Anita, Albert Silvia, Hoyng Carel B, Katti Suresh, den Hollander Anneke I, Garanto Alejand |
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene. Stem cell research 2022 5 62 102797. de Jong Sarah, Koolen Louet, Vázquez-Domínguez Irene, de Breuk Anita, Albert Silvia, Hoyng Carel B, Katti Suresh, den Hollander Anneke I, Garanto Alejand |
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank. Human molecular genetics 2022 3 31 (16): 2678-2692. Tzoumas Nikolaos, Kavanagh David, Cordell Heather J, Lotery Andrew J, Patel Praveen J, Steel David |
Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study. Molecular vision 2021 27 757-767. Altay Lebriz, Liakopoulos Sandra, Berghold Aileen, Rosenberger Kerstin-Daniela, Ernst Angela, de Breuk Anita, den Hollander Anneke I, Fauser Sascha, Schick Ti |
Association of CFI, IL-8, TF and TFR2 Genetic Polymorphisms with Age-Related Macular Degeneration in a Northeastern Chinese Population. Current eye research 2022 Feb 1-10. Xu Zhi-Yu, Gao Jing-Fan, Zhang |
Spatial Distribution of Missense Variants within Complement Proteins Associates with Age Related Macular Degeneration. medRxiv : the preprint server for health sciences 2023 9 . Michelle Grunin, Sarah de Jong, Ellen L Palmer, Bowen Jin, David Rinker, Christopher Moth, Anthony Capra, Jonathan L Haines, William S Bush, Anneke I den Hollander, |
Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration. iScience 2023 5 26 (4): 106417. Lina Zelinger, Tammy M Martin, Jayshree Advani, Laura Campello, Milton A English, Alan Kwong, Claire Weber, Jennifer Maykoski, Yuri V Sergeev, Robert Fariss, Emily Y Chew, Michael L Klein, Anand Swaro |
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration. Ophthalmology science 2023 3 3 (2): 100265. Seddon Johanna M, Rosner Bernard, De Dikha, Huan Tianxiao, Java Anuja, Atkinson Jo |
Polymorphisms in CFI and ARMS genes and exudative age-related macular degeneration: Correspondence. Molecular biology research communications 2023 2 11 (4): 187. Mungmunpuntipantip Rujittika, Wiwanitkit Vir |
Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration. Human molecular genetics 2023 11 . Alan Kwong, Matthew Zawistowski, Lars G Fritsche, Xiaowei Zhan, Jennifer Bragg-Gresham, Kari E Branham, Jayshree Advani, Mohammad Othman, Rinki Ratnapriya, Tanya M Teslovich, Dwight Stambolian, Emily Y Chew, Gonçalo R Abecasis, Anand Swaro |
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- Page last updated:Apr 29, 2024
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