Associated Papers
Haplotyping by linked-read sequencing (HLRS) of the genetic disease carriers for preimplantation genetic testing without a proband or relatives.
Li Q et al.
Bmc Medical Genomics, 2020
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
Norrie disease: first mutation report and prenatal diagnosis in an Indian family.
Ghosh M et al.
Indian Journal of Pediatrics, 2012
Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease.
Yang H et al.
Current Eye Research, 2012
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
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
Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.
Qin M et al.
Human Genetics, 2008
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
Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS et al.
Human Mutation, 1997
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