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Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy
Human Mutation
◽
10.1002/humu.1380060312
◽
1995
◽
Vol 6
(3)
◽
pp. 257-259
◽
Cited By ~ 21
Author(s):
Sigrid Fuchs
◽
Ulrich Kellner
◽
Heike Wedemann
◽
Andreas Gal
Keyword(s):
Missense Mutation
◽
Disease Gene
◽
Norrie Disease
Download Full-text
Related Documents
Cited By
References
Identification of a Recurrent Missense Mutation in the Norrie Disease Gene Associated with a Simplex Case of Exudative Vitreoretinopathy
Biochemical and Biophysical Research Communications
◽
10.1006/bbrc.1998.8565
◽
1998
◽
Vol 246
(1)
◽
pp. 35-38
◽
Cited By ~ 6
Author(s):
Barkur S. Shastry
Keyword(s):
Missense Mutation
◽
Disease Gene
◽
Norrie Disease
Download Full-text
Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene
Ophthalmic Genetics
◽
10.1076/opge.19.3.157.2184
◽
1998
◽
Vol 19
(3)
◽
pp. 157-164
◽
Cited By ~ 4
Author(s):
Jacek Zaremba
◽
Silke Feil
◽
Jadwiga Juszko
◽
Wieslawa Myga
◽
Gerard van Duijnhoven
◽
...
Keyword(s):
Missense Mutation
◽
Disease Gene
◽
Norrie Disease
◽
Intrafamilial Variability
Download Full-text
Correlation of Ophthalmic Examination with Carrier Status in Females Potentially Harboring a Severe Norrie Disease Gene Mutation
Ophthalmology
◽
10.1016/j.ophtha.2007.04.064
◽
2008
◽
Vol 115
(4)
◽
pp. 730-733
◽
Cited By ~ 1
Author(s):
Arif O. Khan
◽
Mohammed A. Aldahmesh
◽
Brian Meyer
Keyword(s):
Gene Mutation
◽
Disease Gene
◽
Carrier Status
◽
Ophthalmic Examination
◽
Norrie Disease
Download Full-text
The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3
Human Molecular Genetics
◽
10.1093/hmg/1.2.83
◽
1992
◽
Vol 1
(2)
◽
pp. 83-89
◽
Cited By ~ 29
Author(s):
K.B. Sims
◽
R.V. Lebo
◽
G. Benson
◽
C. Shalish
◽
D. Schuback
◽
...
Keyword(s):
Disease Gene
◽
Norrie Disease
◽
Gene Maps
Download Full-text
A novel c.287G>T NDP missense mutation in a Chinese family with Norrie disease
Ophthalmic Genetics
◽
10.1080/13816810.2020.1759106
◽
2020
◽
Vol 41
(4)
◽
pp. 338-340
Author(s):
Meina Lin
◽
Yongping Lu
◽
Yu Sui
◽
Xiang Ni
◽
Huan Li
◽
...
Keyword(s):
Missense Mutation
◽
Chinese Family
◽
Norrie Disease
Download Full-text
A C597→A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants
Journal of Biomedical Science
◽
10.1007/bf02256593
◽
2002
◽
Vol 9
(4)
◽
pp. 365-370
Author(s):
M. Z. Haider
◽
L. V. Devarajan
◽
M. Al-Essa
◽
H. Kumar
Keyword(s):
Retinopathy Of Prematurity
◽
Disease Gene
◽
Norrie Disease
Download Full-text
Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families
Human Genetics
◽
10.1007/bf00225085
◽
1995
◽
Vol 95
(1)
◽
Cited By ~ 13
Author(s):
Yasushi Isashiki
◽
Norio Ohba
◽
Toyoko Yanagita
◽
Naoko Hokita
◽
Norihito Doi
◽
...
Keyword(s):
Disease Gene
◽
Novel Mutation
◽
Initiation Codon
◽
Norrie Disease
Download Full-text
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
Human Molecular Genetics
◽
10.1093/hmg/4.11.2179
◽
1995
◽
Vol 4
(11)
◽
pp. 2179-2180
◽
Cited By ~ 3
Author(s):
P. Strasberg
◽
H. A. Liede
◽
T. Stein
◽
I. Warren
◽
J. Sutherland
◽
...
Keyword(s):
Growth Factor
◽
Disease Gene
◽
Novel Mutation
◽
Norrie Disease
◽
Cystine Knot
Download Full-text
A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy
Eye
◽
10.1038/eye.2011.226
◽
2011
◽
Vol 25
(12)
◽
pp. 1658-1658
◽
Cited By ~ 1
Author(s):
S Chamney
◽
E McLoone
◽
C E Willoughby
Keyword(s):
Disease Gene
◽
Norrie Disease
◽
Familial Exudative Vitreoretinopathy
Download Full-text
A mutation in the Norrie disease gene (NDP) associated with X–linked familial exudative vitreoretinopathy
Nature Genetics
◽
10.1038/ng1093-180
◽
1993
◽
Vol 5
(2)
◽
pp. 180-183
◽
Cited By ~ 170
Author(s):
Z-Y. Chen
◽
E.M. Battinelli
◽
A. Fielder
◽
S. Bundey
◽
K. Sims
◽
...
Keyword(s):
Disease Gene
◽
Norrie Disease
◽
Familial Exudative Vitreoretinopathy
Download Full-text
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