Anneke I. den Hollander
- Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
2009/07/17 by Alberta A. H. J. Thiadens, Alberta A.H.J. Thiadens, Anneke I. den Hollander +18 · 2 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Biochemistry #Biology #Exon #Frameshift mutation #Gene #Genetics #Missense mutation #Mutation #Olfactory and Sensory Function Studies #Proband #Retinal #Retinal Development and Disorders #Visual phototransduction
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
2015/12/21 by Nicole T.M. Saksens, Nicole T M Saksens, Mark P Krebs +38 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Connexins and lens biology #Hippo pathway signaling and YAP/TAZ #Retinal Development and Disorders
- Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008/06/02 by Anneke I. den Hollander, Ronald Roepman, Robert K. Koenekoop +1 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Cis-trans-Isomerases #Dystrophy #GUCY2D #Gene #Genetic enhancement #Genetic heterogeneity #Genetics #Joubert syndrome #Neuroscience #Ocular Disorders and Treatments #Phenotype #RPE65 #Retina #Retinal Development and Disorders #Retinal Diseases and Treatments #Retinal degeneration #Retinitis pigmentosa #Visual phototransduction