19 Result(s)
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Anneke I den Hollander
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Open AccessGenome-wide characterization of circulating metabolic biomarkers
Genome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism1–7. This detailed knowledge of the genetic determinants of systemic me...
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Author Correction: The power of genetic diversity in genome-wide association studies of lipids
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Open AccessA saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sa...
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Open AccessIncreased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration
Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determina...
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Open AccessGenome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid dis...
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Open AccessGenetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration
Several prediction models for progression of age-related macular degeneration (AMD) have been developed, but the added value of using genetic information in those models in addition to clinical characteristics...
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Open AccessExome sequencing in patients with chronic central serous chorioretinopathy
Chronic central serous chorioretinopathy (cCSC) is a multifactorial eye disease characterized by subretinal fluid accumulation that leads to vision loss. Clinically, cCSC is associated with stress, hypercortis...
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Open AccessWhole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes
Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The ...
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Open AccessExploring the Use of Molecular Biomarkers for Precision Medicine in Age-Related Macular Degeneration
Precision medicine aims to improve patient care by adjusting medication to each patient’s individual needs. Age-related macular degeneration (AMD) is a heterogeneous eye disease in which several pathways are i...
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Open AccessVariants in the PRPF8 Gene are Associated with Glaucoma
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they e...
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Open AccessIdentification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family
Primary open angle glaucoma (POAG) is a major type of glaucoma characterized by progressive loss of retinal ganglion cells with associated visual field loss without an identifiable secondary cause. Genetic fac...
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Open AccessGWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration
Pooled DNA based GWAS to determine genetic association of SNPs with visual acuity (VA) outcome in anti-vascular endothelial growth factor (anti-VEGF) treated neovascular age-related macular degeneration (nAMD)...
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Open AccessA Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo
The complement system is the first line of defense against foreign intruders and deregulation of this system has been described in multiple diseases. In age-related macular degeneration (AMD), patients have hi...
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Open AccessWhole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld–Rieger syndrome
Axenfeld–Rieger syndrome (ARS) is a disorder affecting the anterior segment of the eye, often leading to secondary glaucoma and several systemic malformations. It is inherited in an autosomal dominant fashion ...
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Open AccessComparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial
Chronic central serous chorioretinopathy (cCSC) is an eye disease characterized by an accumulation of serous fluid under the retina. It is postulated that this fluid accumulation results from hyperpermeability...
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Open AccessCYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia
CYP1B1 is the most commonly mutated gene in primary congenital glaucoma (PCG). This study was undertaken to identify mutations in CYP1B1 in the Western region of Saudi Arabia.
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Open AccessLighting a candle in the dark: advances in the genetics and (gene) therapy of retinal dystrophies
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Open AccessClinical course of cone dystrophy caused by mutations in the RPGR gene
Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe two families with mutations in this gene and cone involvement.
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Open AccessGenetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies
The size of the vertebrate eye and the retina is likely to be controlled at several stages of embryogenesis by mechanisms that affect cell cycle length as well as cell survival. A mutation in the zebrafish out of...
