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Items: 1 to 20 of 113

1.

Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.

Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, Mullins RF.

Retina. 2015 Jan;35(1):48-57. doi: 10.1097/IAE.0000000000000263.

PMID:
25077532
2.

Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.

Guymer RH, McNeil R, Cain M, Tomlin B, Allen PJ, Dip CL, Baird PN.

Clin Experiment Ophthalmol. 2002 Dec;30(6):419-23.

PMID:
12427233
3.

Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.

Garland DL, Fernandez-Godino R, Kaur I, Speicher KD, Harnly JM, Lambris JD, Speicher DW, Pierce EA.

Hum Mol Genet. 2014 Jan 1;23(1):52-68. doi: 10.1093/hmg/ddt395. Epub 2013 Aug 13.

4.

The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration.

Dietzel M, Pauleikhoff D, Arning A, Heimes B, Lommatzsch A, Stoll M, Hense HW.

Graefes Arch Clin Exp Ophthalmol. 2014 Aug;252(8):1273-81. doi: 10.1007/s00417-014-2690-7. Epub 2014 Jun 28.

PMID:
24970616
5.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF.

Nat Genet. 1999 Jun;22(2):199-202.

PMID:
10369267
6.

Incidence and progression of reticular drusen in age-related macular degeneration: findings from an older Australian cohort.

Joachim N, Mitchell P, Rochtchina E, Tan AG, Wang JJ.

Ophthalmology. 2014 Apr;121(4):917-25. doi: 10.1016/j.ophtha.2013.10.043. Epub 2013 Dec 12. Erratum in: Ophthalmology. 2015 Apr;122(4):868.

PMID:
24332537
7.

Age-related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes.

Chong EW, Amirul Islam FM, Robman LD, Aung KZ, Richardson AJ, Baird PN, Guymer RH.

Retina. 2015 May;35(5):989-98. doi: 10.1097/IAE.0000000000000417.

PMID:
25627090
8.

Genotype-phenotype associations in neovascular age-related macular degeneration.

Hogg RE, McKay GJ, Hughes AE, Muldrew KA, Chakravarthy U.

Retina. 2012 Oct;32(9):1950-8.

PMID:
22487577
9.

C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.

Seddon JM, Gensler G, Rosner B.

Ophthalmology. 2010 Aug;117(8):1560-6. doi: 10.1016/j.ophtha.2009.11.020. Epub 2010 Mar 26.

10.

Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.

Liu X, Zhao P, Tang S, Lu F, Hu J, Lei C, Yang X, Lin Y, Ma S, Yang J, Zhang D, Shi Y, Li T, Chen Y, Fan Y, Yang Z.

Retina. 2010 Sep;30(8):1177-84. doi: 10.1097/IAE.0b013e3181cea676.

PMID:
20523265
11.

Incidence, Progression, and Associated Risk Factors of Medium Drusen in Age-Related Macular Degeneration: Findings From the 15-Year Follow-up of an Australian Cohort.

Joachim ND, Mitchell P, Kifley A, Wang JJ.

JAMA Ophthalmol. 2015 Jun;133(6):698-705. doi: 10.1001/jamaophthalmol.2015.0498.

PMID:
25838066
12.

Complement factor B polymorphism and the phenotype of early age-related macular degeneration.

Mantel I, Ambresin A, Moetteli L, Droz I, Roduit R, Munier FL, Schorderet DF.

Ophthalmic Genet. 2014 Mar;35(1):12-7. doi: 10.3109/13816810.2013.766217. Epub 2013 Feb 1.

PMID:
23373431
13.

Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration.

Smailhodzic D, Muether PS, Chen J, Kwestro A, Zhang AY, Omar A, Van de Ven JP, Keunen JE, Kirchhof B, Hoyng CB, Klevering BJ, Koenekoop RK, Fauser S, den Hollander AI.

Ophthalmology. 2012 Nov;119(11):2304-11. doi: 10.1016/j.ophtha.2012.05.040. Epub 2012 Jul 26.

PMID:
22840423
14.

Risk factors associated with reticular pseudodrusen versus large soft drusen.

Boddu S, Lee MD, Marsiglia M, Marmor M, Freund KB, Smith RT.

Am J Ophthalmol. 2014 May;157(5):985-993.e2. doi: 10.1016/j.ajo.2014.01.023. Epub 2014 Jan 31.

15.

Genetic and clinical factors associated with reticular pseudodrusen in exudative age-related macular degeneration.

Yoneyama S, Sakurada Y, Mabuchi F, Imasawa M, Sugiyama A, Kubota T, Iijima H.

Graefes Arch Clin Exp Ophthalmol. 2014 Sep;252(9):1435-41. doi: 10.1007/s00417-014-2601-y. Epub 2014 Mar 5.

PMID:
24595987
16.

[Fundus autofluorescence in patients with hereditary macular dystrophies, malattia leventinese, familial dominant and aged-related drusen].

von Rückmann A, Schmidt KG, Fitzke FW, Bird AC, Jacobi KW.

Klin Monbl Augenheilkd. 1998 Aug;213(2):81-6. German.

PMID:
9782465
17.

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.

Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13067-72. Epub 2002 Sep 19.

18.

Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.

Hulleman JD.

Adv Exp Med Biol. 2016;854:153-8. doi: 10.1007/978-3-319-17121-0_21. Review.

PMID:
26427406
19.

Analysis of the EFEMP1 gene in individuals and families with early onset drusen.

Narendran N, Guymer RH, Cain M, Baird PN.

Eye (Lond). 2005 Jan;19(1):11-5.

PMID:
15218514
20.

Dominant radial drusen and Arg345Trp EFEMP1 mutation.

Matsumoto M, Traboulsi EI.

Am J Ophthalmol. 2001 Jun;131(6):810-2.

PMID:
11384588
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