HuGE Literature Finder
Records
1
-
12
| 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 |
| The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade. Human molecular genetics 2021 3 30 (13): 1188-1199. McMahon O, Hallam T M, Patel S, Harris C L, Menny A, Zelek W M, Widjajahakim R, Java A, Cox T E, Tzoumas N, Steel D H W, Shuttleworth V G, Smith-Jackson K, Brocklebank V, Griffiths H, Cree A J, Atkinson J P, Lotery A J, Bubeck D, Morgan B P, Marchbank K J, Seddon J M, Kavanagh |
| 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, |
| Family-based exome sequencing identifies rare coding variants in age-related macular degeneration. Human molecular genetics 2020 Apr . Ratnapriya Rinki, Acar ?lhan E, Geerlings Maartje J, Branham Kari, Kwong Alan, Saksens Nicole T M, Pauper Marc, Corominas Jordi, Kwicklis Madeline, Zipprer David, Starostik Margaret R, Othman Mohammad, Yashar Beverly, Abecasis Goncalo R, Chew Emily Y, Ferrington Deborah A, Hoyng Carel B, Swaroop Anand, den Hollander Anneke |
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.
Scientific reports 2018 Feb 8 (1): 3124. Gharahkhani Puya, Burdon Kathryn P, Cooke Bailey Jessica N, Hewitt Alex W, Law Matthew H, Pasquale Louis R, Kang Jae H, Haines Jonathan L, Souzeau Emmanuelle, Zhou Tiger, Siggs Owen M, Landers John, Awadalla Mona, Sharma Shiwani, Mills Richard A, Ridge Bronwyn, Lynn David, Casson Robert, Graham Stuart L, Goldberg Ivan, White Andrew, Healey Paul R, Grigg John, Lawlor Mitchell, Mitchell Paul, Ruddle Jonathan, Coote Michael, Walland Mark, Best Stephen, Vincent Andrea, Gale Jesse, RadfordSmith Graham, Whiteman David C, Montgomery Grant W, Martin Nicholas G, Mackey David A, Wiggs Janey L, MacGregor Stuart, Craig Jamie E, |
| 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 |
| Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†. Human molecular genetics 2016 Dec . Yu Yi, Wagner Erin K, Souied Eric H, Seitsonen Sanna, Immonen Ilkka J, Häppölä Paavo, Raychaudhuri Soumya, Daly Mark J, Seddon Johanna |
| 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 |
| 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 |
| C9-R95X polymorphism in patients with neovascular age-related macular degeneration. Investigative ophthalmology & visual science 2011 Dec . Nishiguchi KM, Yasuma TR, Tomida D, Nakamura M, Ishikawa K, Kikuchi M, Ohmi Y, Niwa T, Hamajima N, Furukawa K, Terasaki H |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
- Content source: