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 ◽

Author(s):

K.B. Sims ◽

R.V. Lebo ◽

G. Benson ◽

C. Shalish ◽

D. Schuback ◽

...

Keyword(s):

Disease Gene ◽

Norrie Disease ◽

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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 ◽

Author(s):

Arif O. Khan ◽

Mohammed A. Aldahmesh ◽

Brian Meyer

Keyword(s):

Gene Mutation ◽

Disease Gene ◽

Carrier Status ◽

Ophthalmic Examination ◽

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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 ◽

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Novel mutation at the initiation codon in the Norrie disease gene in two Japanese families

Human Genetics ◽

10.1007/bf00225085 ◽

1995 ◽

Vol 95 (1) ◽

Author(s):

Yasushi Isashiki ◽

Norio Ohba ◽

Toyoko Yanagita ◽

Naoko Hokita ◽

Norihito Doi ◽

...

Keyword(s):

Disease Gene ◽

Novel Mutation ◽

Initiation Codon ◽

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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 ◽

Author(s):

Sigrid Fuchs ◽

Ulrich Kellner ◽

Heike Wedemann ◽

Andreas Gal

Keyword(s):

Missense Mutation ◽

Disease Gene ◽

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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 ◽

Author(s):

P. Strasberg ◽

H. A. Liede ◽

T. Stein ◽

I. Warren ◽

J. Sutherland ◽

...

Keyword(s):

Growth Factor ◽

Disease Gene ◽

Novel Mutation ◽

Norrie Disease ◽

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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 ◽

Author(s):

S Chamney ◽

E McLoone ◽

C E Willoughby

Keyword(s):

Disease Gene ◽

Norrie Disease ◽

Familial Exudative Vitreoretinopathy

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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 ◽

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 ◽

Author(s):

S J. Talks

Keyword(s):

Retinopathy Of Prematurity ◽

Disease Gene ◽

De Novo ◽

Regulatory Region ◽

De Novo Mutations ◽

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Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene

Ophthalmic Genetics ◽

10.3109/13816819609057873 ◽

1996 ◽

Vol 17 (2) ◽

pp. 67-74 ◽

Author(s):

Ulrich Kellner ◽

Sigrid Fuchs ◽

Norbert Bornfeld ◽

Michael H. Foerster ◽

Andreas Gal

Keyword(s):

Disease Gene ◽

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Ocular Findings Associated With a Cys39Arg Mutation in the Norrie Disease Gene

Archives of Ophthalmology ◽

10.1001/archopht.1994.01090240080029 ◽

1994 ◽

Vol 112 (12) ◽

pp. 1574 ◽

Author(s):

Karen M. Joos

Keyword(s):

Disease Gene ◽

Norrie Disease ◽

Ocular Findings

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