Résultats de la recherche - Anneke I. den Hollander
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Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290 par Rob W.J. Collin, Anneke I. den Hollander, Saskia D. van der Velde-Visser, Jeannette Bennicelli, Jean Bennett, Frans P.M. Cremers
Publié 2012Artigo -
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A Multi-Omics Approach Identifies Key Regulatory Pathways Induced by Long-Term Zinc Supplementation in Human Primary Retinal Pigment Epithelium par Eszter Emri, Elöd Körtvely, Sascha Dammeier, Franziska Klose, David Simpson, EYE-RISK Consortium Consortium, Anneke I. den Hollander, Marius Ueffing, Imre Lengyel
Publié 2020Artigo -
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Genomic Copy Number Variations of the Complement Component<i>C4B</i>Gene Are Associated With Chronic Central Serous Chorioretinopathy par Myrte B. Breukink, Rosa L. Schellevis, Camiel J. F. Boon, Sascha Fauser, Carel B. Hoyng, Anneke I. den Hollander, Eiko K. de Jong
Publié 2015Artigo -
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A Homozygous Missense Mutation in the<i>IRBP</i>Gene (<i>RBP3</i>) Associated with Autosomal Recessive Retinitis Pigmentosa par Anneke I. den Hollander, Terri L. McGee, Carmela Ziviello, Sandro Banfi, Thaddeus P. Dryja, Federico Gonzalez‐Fernandez, Debashis Ghosh, Eliot L. Berson
Publié 2009Artigo -
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Cell culture models to study retinal pigment epithelium-related pathogenesis in age-related macular degeneration par Kapil Bharti, Anneke I. den Hollander, Aparna Lakkaraju, Debasish Sinha, David Williams, Silvia C. Finnemann, Catherine Bowes Rickman, Goldis Malek, Patricia A. D’Amore
Publié 2022Revisão -
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Genetic Variants and Systemic Complement Activation Levels Are Associated With Serum Lipoprotein Levels in Age-Related Macular Degeneration par Constantin C. Paun, Lebriz Ersoy, Tina Schick, J.M.M. Groenewoud, Yara Lechanteur, Sascha Fauser, Carel B. Hoyng, Eiko K. de Jong, Anneke I. den Hollander
Publié 2015Artigo -
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Implications of genetic variation in the complement system in age-related macular degeneration par Sarah de Jong, Giuliana Gagliardi, Alejandro Garanto, Anita de Breuk, Yara Lechanteur, Suresh Katti, Lambert P. van den Heuvel, Elena B. Volokhina, Anneke I. den Hollander
Publié 2021Revisão -
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Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene par Camiel J.F. Boon, B. Jeroen Klevering, Carel B. Hoyng, Marijke N. Zonneveld-Vrieling, Sander B. Nabuurs, Ellen A.W. Blokland, Frans P.M. Cremers, Anneke I. den Hollander
Publié 2008Artigo
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Biology
Genetics
Gene
Medicine
Ophthalmology
Macular degeneration
Phenotype
Retinal
Internal medicine
Mutation
Retinitis pigmentosa
Genotype
Biochemistry
Single-nucleotide polymorphism
Pathology
Retinal degeneration
Allele
Neuroscience
Bioinformatics
Complement system
Disease
Retina
Retinal pigment epithelium
Cell biology
Immunology
Missense mutation
Antibody
Factor H
Genome-wide association study
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