121 related articles for article (PubMed ID: 8832723)
1. Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.
Kellner U; Fuchs S; Bornfeld N; Foerster MH; Gal A
Ophthalmic Genet; 1996 Jun; 17(2):67-74. PubMed ID: 8832723
[TBL] [Abstract][Full Text] [Related]
2. Norrie disease. Diagnosis of a simplex case by DNA analysis.
Chynn EW; Walton DS; Hahn LB; Dryja TP
Arch Ophthalmol; 1996 Sep; 114(9):1136-8. PubMed ID: 8790105
[TBL] [Abstract][Full Text] [Related]
3. Norrie disease and exudative vitreoretinopathy in families with affected female carriers.
Shastry BS; Hiraoka M; Trese DC; Trese MT
Eur J Ophthalmol; 1999; 9(3):238-42. PubMed ID: 10544980
[TBL] [Abstract][Full Text] [Related]
4. Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
Black GC; Perveen R; Bonshek R; Cahill M; Clayton-Smith J; Lloyd IC; McLeod D
Hum Mol Genet; 1999 Oct; 8(11):2031-5. PubMed ID: 10484772
[TBL] [Abstract][Full Text] [Related]
5. [Norrie syndrome: identification of carriers by segregation analysis with flanking DNA markers].
Körner J; Uhlhaas S; Neugebauer M; Gal A
Fortschr Ophthalmol; 1989; 86(1):78-81. PubMed ID: 2566566
[TBL] [Abstract][Full Text] [Related]
6. Index of suspicion. Case 2. Diagnosis: Norrie disease.
Veeramachaneni VV; Fielder PN
Pediatr Rev; 2001 Jun; 22(6):211-5. PubMed ID: 11436222
[No Abstract] [Full Text] [Related]
7. Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.
Caballero M; Veske A; Rodriguez JJ; Lugo N; Schroeder B; Hesse L; Gal A
Ophthalmic Genet; 1996 Dec; 17(4):187-91. PubMed ID: 9010869
[TBL] [Abstract][Full Text] [Related]
8. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.
Ravia Y; Braier-Goldstein O; Bat-Miriam KM; Erlich S; Barkai G; Goldman B
Hum Mol Genet; 1993 Aug; 2(8):1295-7. PubMed ID: 8401512
[TBL] [Abstract][Full Text] [Related]
9. Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
Mintz-Hittner HA; Ferrell RE; Sims KB; Fernandez KM; Gemmell BS; Satriano DR; Caster J; Kretzer FL
Ophthalmology; 1996 Dec; 103(12):2128-34. PubMed ID: 9003348
[TBL] [Abstract][Full Text] [Related]
10. Evaluation of the norrie disease gene in a family with incontinentia pigmenti.
Shastry BS; Trese MT
Ophthalmic Res; 2000; 32(4):181-4. PubMed ID: 10828739
[TBL] [Abstract][Full Text] [Related]
11. Lack of association of the Norrie disease gene with retinoschisis phenotype.
Shastry BS; Hiraoka M; Trese MT
Jpn J Ophthalmol; 2000; 44(6):627-9. PubMed ID: 11094177
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.
Riveiro-Alvarez R; Trujillo-Tiebas MJ; Gimenez-Pardo A; Garcia-Hoyos M; Cantalapiedra D; Lorda-Sanchez I; Rodriguez de Alba M; Ramos C; Ayuso C
Mol Vis; 2005 Sep; 11():705-12. PubMed ID: 16163268
[TBL] [Abstract][Full Text] [Related]
13. Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
Joos KM; Kimura AE; Vandenburgh K; Bartley JA; Stone EM
Arch Ophthalmol; 1994 Dec; 112(12):1574-9. PubMed ID: 7993212
[TBL] [Abstract][Full Text] [Related]
14. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.
Zaremba J; Feil S; Juszko J; Myga W; van Duijnhoven G; Berger W
Ophthalmic Genet; 1998 Sep; 19(3):157-64. PubMed ID: 9810571
[TBL] [Abstract][Full Text] [Related]
15. Norrie disease in a family with a manifesting female carrier.
Sims KB; Irvine AR; Good WV
Arch Ophthalmol; 1997 Apr; 115(4):517-9. PubMed ID: 9109762
[TBL] [Abstract][Full Text] [Related]
16. Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.
Pettenati MJ; Rao PN; Weaver RG; Thomas IT; McMahan MR
Am J Med Genet; 1993 Mar; 45(5):577-80. PubMed ID: 8456827
[TBL] [Abstract][Full Text] [Related]
17. [Keratotorus in Norrie disease].
Lang GE; Rott HD; Naumann GO
Klin Monbl Augenheilkd; 1991 Aug; 199(2):110-3. PubMed ID: 1960930
[TBL] [Abstract][Full Text] [Related]
18. Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu WC; Drenser K; Trese M; Capone A; Dailey W
Arch Ophthalmol; 2007 Feb; 125(2):225-30. PubMed ID: 17296899
[TBL] [Abstract][Full Text] [Related]
19. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.
Weleber RG; Butler NS; Murphey WH; Sheffield VC; Stone EM
Arch Ophthalmol; 1997 Nov; 115(11):1429-35. PubMed ID: 9366675
[TBL] [Abstract][Full Text] [Related]
20. A characteristic phenotypic retinal appearance in Norrie disease.
Drenser KA; Fecko A; Dailey W; Trese MT
Retina; 2007 Feb; 27(2):243-6. PubMed ID: 17290208
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]