Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Macular Degeneration and ABCA4[original query] |
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| Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Archives of ophthalmology (Chicago, Ill. : 1960) 2001 May 119 (5): 745-51. Guymer R H, Héon E, Lotery A J, Munier F L, Schorderet D F, Baird P N, McNeil R J, Haines H, Sheffield V C, Stone E |
| An analysis of allelic variation in the ABCA4 gene. Investigative ophthalmology & visual science 2001 May 42 (6): 1179-89. Webster A R, Héon E, Lotery A J, Vandenburgh K, Casavant T L, Oh K T, Beck G, Fishman G A, Lam B L, Levin A, Heckenlively J R, Jacobson S G, Weleber R G, Sheffield V C, Stone E |
| ABCA4 sequence variants in Chinese patients with age-related macular degeneration or Stargardt's disease. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 0 217 (2): 111-4. Baum Larry, Chan Wai Man, Li Wai Ying, Lam Dennis S C, Wang Peng Bo, Pang Chi P |
| Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region. The British journal of ophthalmology 2007 Jul 91 (7): 966-70. Ennis Sarah, Goverdhan Srini, Cree Angela, Hoh Josephine, Collins Andrew, Lotery Andr |
| Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. The British journal of ophthalmology 2009 Oct 93 (10): 1359-64. Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez M Angel, Trujillo-Tiebas M Jose, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso |
| Genetic association study of age-related macular degeneration in the Spanish population. Acta ophthalmologica 2010 Nov . Brión M, Sanchez-Salorio M, Cortón M, De La Fuente M, Pazos B, Othman M, Swaroop A, Abecasis G, Sobrino B, Carracedo A |
| A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene. Investigative ophthalmology & visual science 2012 Apr 53 (4): 2112-8. Fritsche Lars G, Fleckenstein Monika, Fiebig Britta S, Schmitz-Valckenberg Steffen, Bindewald-Wittich Almut, Keilhauer Claudia N, Renner Agnes B, Mackensen Friederike, Mößner Andreas, Pauleikhoff Daniel, Adrion Christine, Mansmann Ulrich, Scholl Hendrik P N, Holz Frank G, Weber Bernhard H |
| Correlation between the interactions of ABCA4 polymorphisms and smoking with the susceptibility to age-related macular degeneration. International journal of clinical and experimental pathology 2015 8 (6): 7403-8. Wu Ying, Tian Lei, Huang Yif |
| Reduced macular function in ABCA4 carriers. Molecular vision 2015 21 767-82. Kjellström Ulri |
| Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. Gene 2015 Aug 567 (1): 51-7. Zhang Rui, Wang Li-Yuan, Wang Ya-Feng, Wu Chang-Rui, Lei Chun-Ling, Wang Ming-Xu, Ma |
| Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC ophthalmology 2015 15 18. Grassmann Felix, Bergholz Richard, Mändl Julia, Jägle Herbert, Ruether Klaus, Weber Bernhard H |
| Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration. Journal of medical genetics 2017 Apr . Zernant Jana, Lee Winston, Collison Frederick T, Fishman Gerald A, Sergeev Yuri V, Schuerch Kaspar, Sparrow Janet R, Tsang Stephen H, Allikmets Ran |
| Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Investigative ophthalmology & visual science 2018 May 59 (6): 2305-2315. Garces Fabian, Jiang Kailun, Molday Laurie L, Stöhr Heidi, Weber Bernhard H, Lyons Christopher J, Maberley David, Molday Robert |
| The association study of lipid metabolism gene polymorphisms with AMD identifies a protective role for APOE-E2 allele in the wet form in a Northern Spanish population. Acta ophthalmologica 2019 Oct . Fernández-Vega Beatriz, García Montserrat, Olivares Lorena, Álvarez Lydia, González-Fernández Adrián, Artime Enol, Fernández-Vega Cueto Andrés, Cobo Teresa, Coca-Prados Miguel, Vega José A, González-Iglesias Héct |
| 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, |
| Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Acta ophthalmologica 2021 8 100 (4): 395-402. Runhart Esmee H, Dhooge Patty, Meester-Smoor Magda, Pas Jeroen, Pott Jan Willem R, van Leeuwen Redmer, Kroes Hester Y, Bergen Arthur A, de Jong-Hesse Yvonne, Thiadens Alberta A, van Schooneveld Mary J, van Genderen Maria, Boon Camiel, Klaver Caroline, van den Born L Ingeborg, Cremers Frans P M, Hoyng Carel |
| 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 |
| A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
- Page last reviewed:Feb 1, 2024
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