These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. 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]
9. 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]
11. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4. Staropoli JF; Xin W; Sims KB J Med Genet; 2010 Nov; 47(11):786-90. PubMed ID: 20679667 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Mutations in the Norrie disease gene: a new mutation in a Japanese family. Isashiki Y; Ohba N; Yanagita T; Hokita N; Hotta Y; Hayakawa M; Fujiki K; Tanabe U Br J Ophthalmol; 1995 Jul; 79(7):703-4. PubMed ID: 7662640 [No Abstract] [Full Text] [Related]
14. Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. Chini V; Stambouli D; Nedelea FM; Filipescu GA; Mina D; Kambouris M; El-Shantil H Eye Sci; 2014 Jun; 29(2):104-7. PubMed ID: 26011961 [TBL] [Abstract][Full Text] [Related]
15. Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. Fuchs S; van de Pol D; Beudt U; Kellner U; Meire F; Berger W; Gal A Hum Mutat; 1996; 8(1):85-8. PubMed ID: 8807344 [No Abstract] [Full Text] [Related]
16. 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]
17. A novel mutation in the Norrie disease gene. Ott S; Patel RJ; Appukuttan B; Wang X; Stout JT J AAPOS; 2000 Apr; 4(2):125-6. PubMed ID: 10773814 [TBL] [Abstract][Full Text] [Related]
18. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. Ozisik G; Mantovani G; Achermann JC; Persani L; Spada A; Weiss J; Beck-Peccoz P; Jameson JL J Clin Endocrinol Metab; 2003 Jan; 88(1):417-23. PubMed ID: 12519885 [TBL] [Abstract][Full Text] [Related]
19. Norrie disease and peripheral venous insufficiency. Michaelides M; Luthert PJ; Cooling R; Firth H; Moore AT Br J Ophthalmol; 2004 Nov; 88(11):1475. PubMed ID: 15489496 [No Abstract] [Full Text] [Related]
20. Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Shastry BS Biochem Biophys Res Commun; 1998 May; 246(1):35-8. PubMed ID: 9618247 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]