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Items: 1 to 20 of 107

1.

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.

Duvvari MR, van de Ven JP, Geerlings MJ, Saksens NT, Bakker B, Henkes A, Neveling K, del Rosario M, Westra D, van den Heuvel LP, Schick T, Fauser S, Boon CJ, Hoyng CB, de Jong EK, den Hollander AI.

PLoS One. 2016 Mar 23;11(3):e0152047. doi: 10.1371/journal.pone.0152047. eCollection 2016.

2.

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Duvvari MR, Saksens NT, van de Ven JP, de Jong-Hesse Y, Schick T, Nillesen WM, Fauser S, Hoefsloot LH, Hoyng CB, de Jong EK, den Hollander AI.

Mol Vis. 2015 Mar 15;21:285-92. eCollection 2015.

3.

Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.

van de Ven JP, Smailhodzic D, Boon CJ, Fauser S, Groenewoud JM, Chong NV, Hoyng CB, Klevering BJ, den Hollander AI.

Mol Vis. 2012;18:2271-8. Epub 2012 Aug 18.

4.

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.

Wagner EK, Raychaudhuri S, Villalonga MB, Java A, Triebwasser MP, Daly MJ, Atkinson JP, Seddon JM.

Sci Rep. 2016 Aug 30;6:31531. doi: 10.1038/srep31531.

5.

Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

Kersten E, Geerlings MJ, den Hollander AI, de Jong EK, Fauser S, Peto T, Hoyng CB.

JAMA Ophthalmol. 2017 Oct 1;135(10):1037-1044. doi: 10.1001/jamaophthalmol.2017.3195.

6.

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E, Kristal D, Shoshany N, Volodarsky D, Vulih I, Celniker G, Isakov O, Shomron N, Pras E.

J Med Genet. 2015 Jul;52(7):484-92. doi: 10.1136/jmedgenet-2015-103130. Epub 2015 May 18.

PMID:
25986072
7.

Basal laminar drusen caused by compound heterozygous variants in the CFH gene.

Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI.

Am J Hum Genet. 2008 Feb;82(2):516-23. doi: 10.1016/j.ajhg.2007.11.007.

8.

Rare complement factor H variant associated with age-related macular degeneration in the Amish.

Hoffman JD, Cooke Bailey JN, D'Aoust L, Cade W, Ayala-Haedo J, Fuzzell D, Laux R, Adams LD, Reinhart-Mercer L, Caywood L, Whitehead-Gay P, Agarwal A, Wang G, Scott WK, Pericak-Vance MA, Haines JL.

Invest Ophthalmol Vis Sci. 2014 Jun 6;55(7):4455-60. doi: 10.1167/iovs.13-13684.

9.

Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.

Ferrara D, Seddon JM.

JAMA Ophthalmol. 2015 Jul;133(7):785-91. doi: 10.1001/jamaophthalmol.2015.0814.

10.

Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.

Saksens NT, Geerlings MJ, Bakker B, Schick T, Daha MR, Fauser S, Boon CJ, de Jong EK, Hoyng CB, den Hollander AI.

JAMA Ophthalmol. 2016 Mar;134(3):287-93. doi: 10.1001/jamaophthalmol.2015.5592.

PMID:
26767664
11.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A.

Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4.

12.

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

PMID:
12427233
13.

Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.

Seitsonen S, Lemmelä S, Holopainen J, Tommila P, Ranta P, Kotamies A, Moilanen J, Palosaari T, Kaarniranta K, Meri S, Immonen I, Järvelä I.

Mol Vis. 2006 Jul 20;12:796-801.

14.

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R.

Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. Epub 2005 May 3.

15.

Complement factor H polymorphism p.Tyr402His and cuticular Drusen.

Grassi MA, Folk JC, Scheetz TE, Taylor CM, Sheffield VC, Stone EM.

Arch Ophthalmol. 2007 Jan;125(1):93-7.

PMID:
17210858
16.

Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.

Triebwasser MP, Roberson ED, Yu Y, Schramm EC, Wagner EK, Raychaudhuri S, Seddon JM, Atkinson JP.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6873-8. doi: 10.1167/iovs.15-17432.

17.

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.

18.

The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.

Geerlings MJ, Kremlitzka M, Bakker B, Nilsson SC, Saksens NT, Lechanteur YT, Pauper M, Corominas J, Fauser S, Hoyng CB, Blom AM, de Jong EK, den Hollander AI.

JAMA Ophthalmol. 2017 Jan 1;135(1):39-46. doi: 10.1001/jamaophthalmol.2016.4604.

PMID:
27918759
19.

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane.

Corominas J, Colijn JM, Geerlings MJ, Pauper M, Bakker B, Amin N, Lores Motta L, Kersten E, Garanto A, Verlouw JAM, van Rooij JGJ, Kraaij R, de Jong PTVM, Hofman A, Vingerling JR, Schick T, Fauser S, de Jong EK, van Duijn CM, Hoyng CB, Klaver CCW, den Hollander AI.

Ophthalmology. 2018 Sep;125(9):1433-1443. doi: 10.1016/j.ophtha.2018.03.040. Epub 2018 Apr 26.

20.

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

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