Associated Papers
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
Jia B et al.
Journal of Genetics, 2017
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Nikopoulos K et al.
Human Mutation, 2010
Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair.
Xu Q et al.
Cell, 2004
Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.
Caballero M et al.
Ophthalmic Genetics, 1996
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.
Berger W et al.
Human Molecular Genetics, 1996
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