Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Macular Degeneration and EFEMP1[original query] |
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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 |
Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye (London, England) 2005 Jan 19 (1): 11-5. Narendran N, Guymer R H, Cain M, Baird P |
Genome-wide analysis of copy number variants in age-related macular degeneration. Human genetics 2011 Jan 129 (1): 91-100. Meyer Kacie J, Davis Lea K, Schindler Emily I, Beck John S, Rudd Danielle S, Grundstad A Jason, Scheetz Todd E, Braun Terry A, Fingert John H, Alward Wallace L, Kwon Young H, Folk James C, Russell Stephen R, Wassink Thomas H, Stone Edwin M, Sheffield Val |
Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. Retina (Philadelphia, Pa.) 2015 Jan 35 (1): 48-57. Sohn Elliott H, Wang Kai, Thompson Stewart, Riker Megan J, Hoffmann Jeremy M, Stone Edwin M, Mullins Robert |
Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes. Human molecular genetics 2015 Aug 24 (16): 4491-503. Atilano Shari R, Malik Deepika, Chwa Marilyn, Cáceres-Del-Carpio Javier, Nesburn Anthony B, Boyer David S, Kuppermann Baruch D, Jazwinski S Michal, Miceli Michael V, Wallace Douglas C, Udar Nitin, Kenney M Cristi |
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration. PloS one 2016 11 (3): e0152047. Duvvari Maheswara R, van de Ven Johannes P H, Geerlings Maartje J, Saksens Nicole T M, Bakker Bjorn, Henkes Arjen, Neveling Kornelia, Rosario Marisol Del, Westra Dineke, van den Heuvel Lambertus P W J, Schick Tina, Fauser Sascha, Boon Camiel J F, Hoyng Carel B, Jong Eiko K de, Hollander Anneke I d |
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1. Aging cell 2018 5 17 (4): e12710. Lin Michael K, Yang Jin, Hsu Chun Wei, Gore Anuradha, Bassuk Alexander G, Brown Lewis M, Colligan Ryan, Sengillo Jesse D, Mahajan Vinit B, Tsang Stephen |
EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. Human mutation 2021 12 43 (2): 240-252. Collantes Edward Ryan A, Delfin Manuel S, Fan Baojian, Torregosa Justine May R, Siguan-Bell Christine, Florcruz Nilo Vincent de Guzman, Martinez Jose Maria D, Masna-Hidalgo Barbara Joy, Guzman Vincent Paul T, Anotado-Flores Jewel Faith, Levina Faye D, Hernandez Sophia Raine C, Collantes Anthony A, Sibulo Michael Carreon, Rong Shisong, Wiggs Janey |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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