Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99

1.

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

van de Ven JP, Boon CJ, Fauser S, Hoefsloot LH, Smailhodzic D, Schoenmaker-Koller F, Klevering J, Klaver CC, den Hollander AI, Hoyng CB.

Arch Ophthalmol. 2012 Aug;130(8):1038-47.

PMID:
22491393
2.

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.

PMID:
25880396
3.

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.

4.

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.

5.

The spectrum of phenotypes caused by variants in the CFH gene.

Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI.

Mol Immunol. 2009 May;46(8-9):1573-94. doi: 10.1016/j.molimm.2009.02.013. Epub 2009 Mar 17. Review.

PMID:
19297022
6.

Complement factor H variant Y402H and basal laminar deposits in exudative age-related macular degeneration.

Lommatzsch A, Hermans P, Weber B, Pauleikhoff D.

Graefes Arch Clin Exp Ophthalmol. 2007 Nov;245(11):1713-6. Epub 2007 Aug 18.

PMID:
17704937
7.

Clinical and genetic characteristics of late-onset Stargardt's disease.

Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB.

Ophthalmology. 2012 Jun;119(6):1199-210. doi: 10.1016/j.ophtha.2012.01.005. Epub 2012 Mar 24.

PMID:
22449572
8.

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
9.

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.

Ophthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3.

PMID:
23290749
10.

[Clinical findings and macular lesions in basal laminar drusen].

Takeda M, Sato Y, Ogino T, Imaizumi H, Okushiba U.

Nippon Ganka Gakkai Zasshi. 2013 Oct;117(10):799-807. Japanese.

PMID:
24354264
11.

Angiography features of early onset drusen.

Guigui B, Leveziel N, Martinet V, Massamba N, Sterkers M, Coscas G, Souied EH.

Br J Ophthalmol. 2011 Feb;95(2):238-44. doi: 10.1136/bjo.2009.178400. Epub 2010 Jul 7.

PMID:
20610475
12.

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3085-97.

PMID:
16799055
13.

Visual function and course of basal laminar drusen combined with vitelliform macular detachment.

Cohen SY, Meunier I, Soubrane G, Glacet-Bernard A, Coscas GJ.

Br J Ophthalmol. 1994 Jun;78(6):437-40.

14.

Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).

Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ.

J Med Genet. 2006 Jul;43(7):582-9. Epub 2005 Nov 18.

15.

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
16.

Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.

Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):683-91.

PMID:
15671300
17.

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.

18.

The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphisms.

Liu J, Colville D, Wang YY, Baird PN, Guymer RH, Savige J.

Br J Ophthalmol. 2009 Mar;93(3):379-82. doi: 10.1136/bjo.2008.143388. Epub 2008 Nov 19.

PMID:
19019939
19.

Age-related macular degeneration and risk factors for the development of choroidal neovascularisation in the fellow eye: a 3-year follow-up study.

Silva R, Cachulo ML, Fonseca P, Bernardes R, Nunes S, Vilhena N, Faria de Abreu JR.

Ophthalmologica. 2011;226(3):110-8. doi: 10.1159/000329473. Epub 2011 Aug 3.

PMID:
21822000
20.

Supplemental Content

Support Center