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| 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 |
| 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, |
| 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 |
| 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, Kadayifcilar Sibel, Ozgul Riza Koksal, Eldem Bo |
| 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 |
| 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, |
| 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 |
| 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 |
| 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 |
| Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population. Human molecular genetics 2016 Nov 25 (22): 5027-5034. Momozawa Yukihide, Akiyama Masato, Kamatani Yoichiro, Arakawa Satoshi, Yasuda Miho, Yoshida Shigeo, Oshima Yuji, Mori Ryusaburo, Tanaka Koji, Mori Keisuke, Inoue Satoshi, Terasaki Hiroko, Yasuma Tetsuhiro, Honda Shigeru, Miki Akiko, Inoue Maiko, Fujisawa Kimihiko, Takahashi Kanji, Yasukawa Tsutomu, Yanagi Yasuo, Kadonosono Kazuaki, Sonoda Koh-Hei, Ishibashi Tatsuro, Takahashi Atsushi, Kubo Michia |
| Functional single nucleotide polymorphism in IL-17A 3' untranslated region is targeted by miR-4480 in vitro and may be associated with age-related macular degeneration. Environmental and molecular mutagenesis 2016 Jan 57 (1): 58-64. Popp Nicholas A, Yu Dianke, Green Bridgett, Chew Emily Y, Ning Baitang, Chan Chi-Chao, Tuo Jingshe |
| Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration. JAMA ophthalmology 2016 Jan 1-8. Saksens Nicole T M, Geerlings Maartje J, Bakker Bjorn, Schick Tina, Daha Mohamed R, Fauser Sascha, Boon Camiel J F, de Jong Eiko K, Hoyng Carel B, den Hollander Anneke |
| Association between complement factor I gene polymorphisms and the risk of age-related macular degeneration: a Meta-analysis of literature. International journal of ophthalmology 2016 9 (2): 298-305. Wang Qin, Zhao Hai-Sheng, Li |
| Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes. PloS one 2016 11 (9): e0162296. Velazquez-Villoria Alvaro, Recalde Sergio, Anter Jaouad, Bezunartea Jaione, Hernandez-Sanchez Maria, García-García Laura, Alonso Elena, Ruiz-Moreno Jose María, Araiz-Iribarren Javier, Fernandez-Robredo Patricia, García-Layana Alfre |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nature genetics 2015 Dec . Fritsche Lars G, Igl Wilmar, Bailey Jessica N Cooke, Grassmann Felix, Sengupta Sebanti, Bragg-Gresham Jennifer L, Burdon Kathryn P, Hebbring Scott J, Wen Cindy, Gorski Mathias, Kim Ivana K, Cho David, Zack Donald, Souied Eric, Scholl Hendrik P N, Bala Elisa, Lee Kristine E, Hunter David J, Sardell Rebecca J, Mitchell Paul, Merriam Joanna E, Cipriani Valentina, Hoffman Joshua D, Schick Tina, Lechanteur Yara T E, Guymer Robyn H, Johnson Matthew P, Jiang Yingda, Stanton Chloe M, Buitendijk Gabriëlle H S, Zhan Xiaowei, Kwong Alan M, Boleda Alexis, Brooks Matthew, Gieser Linn, Ratnapriya Rinki, Branham Kari E, Foerster Johanna R, Heckenlively John R, Othman Mohammad I, Vote Brendan J, Liang Helena Hai, Souzeau Emmanuelle, McAllister Ian L, Isaacs Timothy, Hall Janette, Lake Stewart, Mackey David A, Constable Ian J, Craig Jamie E, Kitchner Terrie E, Yang Zhenglin, Su Zhiguang, Luo Hongrong, Chen Daniel, Ouyang Hong, Flagg Ken, Lin Danni, Mao Guanping, Ferreyra Henry, Stark Klaus, von Strachwitz Claudia N, Wolf Armin, Brandl Caroline, Rudolph Guenther, Olden Matthias, Morrison Margaux A, Morgan Denise J, Schu Matthew, Ahn Jeeyun, Silvestri Giuliana, Tsironi Evangelia E, Park Kyu Hyung, Farrer Lindsay A, Orlin Anton, Brucker Alexander, Li Mingyao, A Curcio Christine, Mohand-Saïd Saddek, Sahel José-Alain, Audo Isabelle, Benchaboune Mustapha, Cree Angela J, Rennie Christina A, Goverdhan Srinivas V, Grunin Michelle, Hagbi-Levi Shira, Campochiaro Peter, Katsanis Nicholas, Holz Frank G, Blond Frédéric, Blanché Hélène, Deleuze Jean-François, Igo Robert P, Truitt Barbara, Peachey Neal S, Meuer Stacy M, Myers Chelsea E, Moore Emily L, Klein Ronald, Hauser Michael A, Postel Eric A, Courtenay Monique D, Schwartz Stephen G, Kovach Jaclyn L, Scott William K, Liew Gerald, Tan Ava G, Gopinath Bamini, Merriam John C, Smith R Theodore, Khan Jane C, Shahid Humma, Moore Anthony T, McGrath J Allie, Laux Reneé, Brantley Milam A, Agarwal Anita, Ersoy Lebriz, Caramoy Albert, Langmann Thomas, Saksens Nicole T M, de Jong Eiko K, Hoyng Carel B, Cain Melinda S, Richardson Andrea J, Martin Tammy M, Blangero John, Weeks Daniel E, Dhillon Bal, van Duijn Cornelia M, Doheny Kimberly F, Romm Jane, Klaver Caroline C W, Hayward Caroline, Gorin Michael B, Klein Michael L, Baird Paul N, den Hollander Anneke I, Fauser Sascha, Yates John R W, Allikmets Rando, Wang Jie Jin, Schaumberg Debra A, Klein Barbara E K, Hagstrom Stephanie A, Chowers Itay, Lotery Andrew J, Léveillard Thierry, Zhang Kang, Brilliant Murray H, Hewitt Alex W, Swaroop Anand, Chew Emily Y, Pericak-Vance Margaret A, DeAngelis Margaret, Stambolian Dwight, Haines Jonathan L, Iyengar Sudha K, Weber Bernhard H F, Abecasis Gonçalo R, Heid Iris |
| Association between vitamin D status and age-related macular degeneration by genetic risk. JAMA ophthalmology 2015 Aug . Millen Amy E, Meyers Kristin J, Liu Zhe, Engelman Corinne D, Wallace Robert B, LeBlanc Erin S, Tinker Lesley F, Iyengar Sudha K, Robinson Jennifer G, Sarto Gloria E, Mares Julie |
| Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Human molecular genetics 2015 Jul 24 (13): 3861-70. Kavanagh David, Yu Yi, Schramm Elizabeth C, Triebwasser Michael, Wagner Erin K, Raychaudhuri Soumya, Daly Mark J, Atkinson John P, Seddon Johanna |
| Complement factor I and age-related macular degeneration. Molecular vision 2014 20 1253-7. Alexander Philip, Gibson Jane, Cree Angela J, Ennis Sarah, Lotery Andrew |
| Complement factor I polymorphism is not associated with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a chinese population. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2014 232 (1): 37-45. Yang Fei, Sun Yaoyao, Jin Zhongtian, Cheng Yong, Li Shanshan, Bai Yujing, Huang Lvzhen, Li Xiaox |
| Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nature genetics 2013 Nov 45 (11): 1366-70. Seddon Johanna M, Yu Yi, Miller Elizabeth C, Reynolds Robyn, Tan Perciliz L, Gowrisankar Sivakumar, Goldstein Jacqueline I, Triebwasser Michael, Anderson Holly E, Zerbib Jennyfer, Kavanagh David, Souied Eric, Katsanis Nicholas, Daly Mark J, Atkinson John P, Raychaudhuri Soum |
| A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nature genetics 2013 Jul 45 (7): 813-7. van de Ven Johannes P H, Nilsson Sara C, Tan Perciliz L, Buitendijk Gabriëlle H S, Ristau Tina, Mohlin Frida C, Nabuurs Sander B, Schoenmaker-Koller Frederieke E, Smailhodzic Dzenita, Campochiaro Peter A, Zack Donald J, Duvvari Maheswara R, Bakker Bjorn, Paun Codrut C, Boon Camiel J F, Uitterlinden Andre G, Liakopoulos Sandra, Klevering B Jeroen, Fauser Sascha, Daha Mohamed R, Katsanis Nicholas, Klaver Caroline C W, Blom Anna M, Hoyng Carel B, den Hollander Anneke |
| [Association of single nucleotide polymorphism in complement factor I gene with age-related macular degeneration]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2013 Apr 49 (4): 350-6. Wu Pei-bei, Gu Hong, Yang Xiu-fen, Liu Ning- |
| Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy. Ophthalmology 2013 Mar . Reynolds R, Rosner B, Seddon JM |
| Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
Human molecular genetics 2012 Sep 21 (18): 4138-50. Cipriani Valentina, Leung Hin-Tak, Plagnol Vincent, Bunce Catey, Khan Jane C, Shahid Humma, Moore Anthony T, Harding Simon P, Bishop Paul N, Hayward Caroline, Campbell Susan, Armbrecht Ana Maria, Dhillon Baljean, Deary Ian J, Campbell Harry, Dunlop Malcolm, Dominiczak Anna F, Mann Samantha S, Jenkins Sharon A, Webster Andrew R, Bird Alan C, Lathrop Mark, Zelenika Diana, Souied Eric H, Sahel José-Alain, Léveillard Thierry, , Cree Angela J, Gibson Jane, Ennis Sarah, Lotery Andrew J, Wright Alan F, Clayton David G, Yates John R |
| Genetic factors for choroidal neovascularization associated with high myopia. Investigative ophthalmology & visual science 2012 53 (8): 5004-9. Leveziel Nicolas, Yu Yi, Reynolds Robyn, Tai Albert, Meng Weihua, Caillaux Violaine, Calvas Patrick, Rosner Bernard, Malecaze François, Souied Eric H, Seddon Johanna |
| Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study. American journal of ophthalmology 2011 Dec 152 (6): 1005-1013.e1. Peter Inga, Huggins Gordon S, Ordovas Jose M, Haan Mary, Seddon Johanna |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Human molecular genetics 2011 Sep 20 (18): 3699-709. Yu Yi, Bhangale Tushar R, Fagerness Jesen, Ripke Stephan, Thorleifsson Gudmar, Tan Perciliz L, Souied Eric H, Richardson Andrea J, Merriam Joanna E, Buitendijk Gabriëlle H S, Reynolds Robyn, Raychaudhuri Soumya, Chin Kimberly A, Sobrin Lucia, Evangelou Evangelos, Lee Phil H, Lee Aaron Y, Leveziel Nicolas, Zack Donald J, Campochiaro Betsy, Campochiaro Peter, Smith R Theodore, Barile Gaetano R, Guymer Robyn H, Hogg Ruth, Chakravarthy Usha, Robman Luba D, Gustafsson Omar, Sigurdsson Haraldur, Ortmann Ward, Behrens Timothy W, Stefansson Kari, Uitterlinden André G, van Duijn Cornelia M, Vingerling Johannes R, Klaver Caroline C W, Allikmets Rando, Brantley Milam A, Baird Paul N, Katsanis Nicholas, Thorsteinsdottir Unnur, Ioannidis John P A, Daly Mark J, Graham Robert R, Seddon Johanna |
| Association of OCT derived drusen measurements with AMD associated-genotypic SNPs in Amish population. Journal of clinical medicine 0 4 (2): 304-317. Chavali Venkata Ramana Murthy, Diniz Bruno, Huang Jiayan, Ying Gui-Shuang, Sadda SriniVas R, Stambolian Dwig |
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