Associated Papers
Investigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Liu M et al.
Investigative Ophthalmology & Visual Science, 2024
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.
Liu HY et al.
Journal of the Chinese Medical Association : Jcma, 2016
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
Yang H et al.
Current Eye Research, 2012
The molecular basis of human retinal and vitreoretinal diseases.
Berger W et al.
Progress in Retinal and Eye Research, 2010
SNPs: impact on gene function and phenotype.
Shastry BS
Methods in Molecular Biology (clifton, N.j.), 2009
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
Allen RC et al.
Eye (london, England), 2006
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