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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2023. (Total: 223688Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Macular Degeneration and EFEMP1[original query]
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
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