His scientific interests lie mostly in Genetics, Retinitis pigmentosa, Macular degeneration, Mutation and Gene. Retinal Cone Photoreceptor Cells is closely connected to Achromatopsia in his research, which is encompassed under the umbrella topic of Genetics. His biological study spans a wide range of topics, including Disease gene identification, Genetic heterogeneity, ABCA4 and Candidate gene.
His ABCA4 research incorporates elements of Dystrophy and Pathology. His Macular degeneration study results in a more complete grasp of Ophthalmology. His study in Mutation is interdisciplinary in nature, drawing from both Disease, CRB1 and Genotype.
Ophthalmology, Genetics, Macular degeneration, Visual acuity and Retinitis pigmentosa are his primary areas of study. His Fluorescein angiography, Retinal, Retinal pigment epithelium and Electroretinography study, which is part of a larger body of work in Ophthalmology, is frequently linked to In patient, bridging the gap between disciplines. His study in Gene, Mutation, Allele, Stargardt disease and Missense mutation are all subfields of Genetics.
The Macular degeneration study combines topics in areas such as Internal medicine, Age related, Single-nucleotide polymorphism and Ranibizumab. His research in Visual acuity tackles topics such as Fundus photography which are related to areas like Ophthalmoscopy. He interconnects Retinal degeneration, Dystrophy, Compound heterozygosity and ABCA4 in the investigation of issues within Retinitis pigmentosa.
His primary areas of investigation include Ophthalmology, Genetics, Macular degeneration, Stargardt disease and Internal medicine. In the subject of general Ophthalmology, his work in Visual acuity, Retinal and Chronic central serous chorioretinopathy is often linked to Photodynamic therapy, thereby combining diverse domains of study. His research integrates issues of Genome-wide association study, Single-nucleotide polymorphism, Complement system, Disease and Age related in his study of Macular degeneration.
His Stargardt disease research incorporates themes from Clinical trial, RNA splicing and ABCA4. The concepts of his Internal medicine study are interwoven with issues in Gastroenterology, Allele and Oncology. In his study, Fundus is strongly linked to Retinitis pigmentosa, which falls under the umbrella field of Missense mutation.
Carel B. Hoyng mainly investigates Genetics, Macular degeneration, Ophthalmology, Visual acuity and Internal medicine. His work is connected to Exome sequencing, Gene and Stargardt disease, as a part of Genetics. His Stargardt disease research is multidisciplinary, incorporating perspectives in Penetrance, Allele, Allele frequency and ABCA4.
His Macular degeneration study incorporates themes from Lipid metabolism, Genome-wide association study, Complement system and Ranibizumab. His biological study deals with issues like Diabetic retinopathy, which deal with fields such as Blood pressure. His Heterozygote advantage research is multidisciplinary, relying on both Fundus and Retinitis pigmentosa.
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Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Anneke I. den Hollander;Robert K. Koenekoop;Suzanne Yzer;Irma Lopez.
American Journal of Human Genetics (2006)
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann.
Nature Genetics (2016)
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
Frans P. M. Cremers;Dorien J. R. van de Pol;Marc van Driel;Anneke I. den Hollander.
Human Molecular Genetics (1998)
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
A.I. den Hollander;J.B. ten Brink;Y.J.M. de Kok;S. van Soest.
Nature Genetics (1999)
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
Anneke I. den Hollander;John R. Heckenlively;L. Ingeborgh van den Born;Yvette J.M. de Kok.
American Journal of Human Genetics (2001)
Multi-country real-life experience of anti-vascular endothelial growth factor therapy for wet age-related macular degeneration
Frank G Holz;Ramin Tadayoni;Stephen Beatty;Alan Berger.
British Journal of Ophthalmology (2015)
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Alessandra Maugeri;B. Jeroen Klevering;Klaus Rohrschneider;Anita Blankenagel.
American Journal of Human Genetics (2000)
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
A. Maugeri;M.A. van Driel;T.J.R. van de Pol;B.J. Klevering.
American Journal of Human Genetics (1999)
Fast Convolutional Neural Network Training Using Selective Data Sampling: Application to Hemorrhage Detection in Color Fundus Images
Mark J. J. P. van Grinsven;Bram van Ginneken;Carel B. Hoyng;Thomas Theelen.
IEEE Transactions on Medical Imaging (2016)
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J.F. Boon;B. Jeroen Klevering;Bart P. Leroy;Carel B. Hoyng.
Progress in Retinal and Eye Research (2009)
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