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2. 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]
3. Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy. Fuchs S; Kellner U; Wedemann H; Gal A Hum Mutat; 1995; 6(3):257-9. PubMed ID: 8535448 [No Abstract] [Full Text] [Related]
4. 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]
5. 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]
6. [A literature review of Norrie disease]. Ohba N; Isashiki Y Nippon Ganka Gakkai Zasshi; 1996 Feb; 100(2):101-10. PubMed ID: 8851148 [TBL] [Abstract][Full Text] [Related]
7. Novel nonsense mutation (Tyr44stop) of the Norrie disease gene in a Japanese family. Hatsukawa Y; Nakao T; Yamagishi T; Okamoto N; Isashiki Y Br J Ophthalmol; 2002 Dec; 86(12):1452-3. PubMed ID: 12446397 [No Abstract] [Full Text] [Related]
8. First demonstration of recombination between the gene for Norrie disease and probe L1.28. Katayama S; Wohlferd M; Golbus MS Am J Med Genet; 1988 Aug; 30(4):967-70. PubMed ID: 3189417 [TBL] [Abstract][Full Text] [Related]
9. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Rehm HL; Gutiérrez-Espeleta GA; Garcia R; Jiménez G; Khetarpal U; Priest JM; Sims KB; Keats BJ; Morton CC Hum Mutat; 1997; 9(5):402-8. PubMed ID: 9143918 [TBL] [Abstract][Full Text] [Related]
10. Duplicate report crossing over in Norrie disease family. Ngo J; Spence MA; Cortessis V; Bateman JB; Sparkes RS Am J Med Genet; 1989 Jun; 33(2):286. PubMed ID: 2764042 [No Abstract] [Full Text] [Related]
11. 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]
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. Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa. Burt DW; Morrice DR; Lester DH; Robertson GW; Mohamed MD; Simmons I; Downey LM; Thaung C; Bridges LR; Paton IR; Gentle M; Smith J; Hocking PM; Inglehearn CF Mol Vis; 2003 Apr; 9():164-70. PubMed ID: 12724645 [TBL] [Abstract][Full Text] [Related]
14. Unusual presentation of Norrie's disease with hypomagnesemia. Kumar MS; Shenoi A; Mukta Jain M; Ashok J; Chidananda SC; Sameera P; Maseeuddin S Indian Pediatr; 1998 Aug; 35(8):783-6. PubMed ID: 10216575 [No Abstract] [Full Text] [Related]
15. In utero diagnosis of Norrie disease and early laser preserves visual acuity. Kiernan DF; Blair MP; Shapiro MJ Arch Ophthalmol; 2010 Oct; 128(10):1382. PubMed ID: 20938020 [No Abstract] [Full Text] [Related]