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
38517429 (PubMed )
Supplement: iovs-65-3-31_s001.pdf
Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Guimaraes TAC et al.
The British Journal of Ophthalmology, 2023
Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Wawrzynski J et al.
Frontiers in Genetics, 2022
35651932 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1
Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon.
Vickrey AI et al.
Elife, 2018
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
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
Parzefall T et al.
Audiology & Neuro-otology, 2014
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
Yang H et al.
Current Eye Research, 2012
Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.
Pelcastre EL et al.
Clinical & Experimental Ophthalmology, 2010
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.
Lin P et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 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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