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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
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References
Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency
Human Mutation
◽
10.1002/(sici)1098-1004(1997)9:5<402::aid-humu4>3.0.co;2-5
◽
1997
◽
Vol 9
(5)
◽
pp. 402-408
◽
Cited By ~ 17
Author(s):
Heidi L. Rehm
◽
Gustavo A. Gutiérrez-Espeleta
◽
Rafael Garcia
◽
Gerardo Jiménez
◽
Umang Khetarpal
◽
...
Keyword(s):
Gene Mutation
◽
Venous Insufficiency
◽
Disease Gene
◽
Costa Rican
◽
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
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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
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
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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
High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study
Hepatology
◽
10.1053/jhep.2000.20152
◽
2000
◽
Vol 32
(6)
◽
pp. 1329-1336
◽
Cited By ~ 58
Author(s):
Luis García-Villarreal
◽
Susan Daniels
◽
Sarah H. Shaw
◽
David Cotton
◽
Margaret Galvin
◽
...
Keyword(s):
Clinical Study
◽
Gene Mutation
◽
Canary Islands
◽
Wilson Disease
◽
Disease Gene
◽
Gran Canaria
◽
High Prevalence
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
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De novo mutations in the 5' regulatory region of the Norrie disease gene in retinopathy of prematurity
Journal of Medical Genetics
◽
10.1136/jmg.38.12.e46
◽
2001
◽
Vol 38
(12)
◽
pp. 46e-46
◽
Cited By ~ 20
Author(s):
S J. Talks
Keyword(s):
Retinopathy Of Prematurity
◽
Disease Gene
◽
De Novo
◽
Regulatory Region
◽
De Novo Mutations
◽
Norrie Disease
Download Full-text
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