×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Moreover, mutations in the gene encoding NDP , a ligand for these Wnt receptors, cause Norrie disease and FEVR.
20340138
2010
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Direct sequencing after polymerase chain reaction of all exons of the NDP gene was performed on blood collected from 62 probands (31 familial and 31 simplex) with FEVR, from 3 probands with ND , and from some of their family members.
17325173
2007
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
All patients diagnosed as having Norrie disease had mutations in the NDP gene.
17296899
2007
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.
17334993
2007
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR.
16970763
2006
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Gene symbol: NDP . Disease: Norrie disease .
17128466
2006
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
15776010
2006
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
A novel missense Norrie disease mutation associated with a severe ocular phenotype.
15609522
2005
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
NDP gene mutations in 14 French families with Norrie disease .
14635119
2003
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.
11337749
2001
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Norrie disease and exudative vitreoretinopathy in families with affected female carriers.
10544980
1999
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
10484772
1999
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.
8990009
1997
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix.
9407136
1997
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
9382152
1997
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.
9143918
1997
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
8741107
1996
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
8807344
1996
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Mutations in the Norrie disease gene: a new mutation in a Japanese family.
7662640
1995
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif.
8589700
1995
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Mutations in the Norrie disease gene.
7627181
1995
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Missense mutations in the NDP gene in patients with a less severe course of Norrie disease .
7795608
1995
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.
8069314
1994
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
7993212
1994
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
Norrie disease
1.000
GeneticVariation
UNIPROT
Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
8268931
1993