232 related articles for article (PubMed ID: 14635119)
1. NDP gene mutations in 14 French families with Norrie disease.
Royer G; Hanein S; Raclin V; Gigarel N; Rozet JM; Munnich A; Steffann J; Dufier JL; Kaplan J; Bonnefont JP
Hum Mutat; 2003 Dec; 22(6):499. PubMed ID: 14635119
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular analysis of the NDP gene in two families with Norrie disease.
Rivera-Vega MR; Chiñas-Lopez S; Vaca AL; Arenas-Sordo ML; Kofman-Alfaro S; Messina-Baas O; Cuevas-Covarrubias SA
Acta Ophthalmol Scand; 2005 Apr; 83(2):210-4. PubMed ID: 15799735
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY; Battinelli EM; Fielder A; Bundey S; Sims K; Breakefield XO; Craig IW
Nat Genet; 1993 Oct; 5(2):180-3. PubMed ID: 8252044
[TBL] [Abstract][Full Text] [Related]
6. Sequence analysis and transcript identification within 1.5 MB of DNA deleted together with the NDP and MAO genes in atypical Norrie disease patients presenting with a profound phenotype.
Suárez-Merino B; Bye J; McDowall J; Ross M; Craig IW
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385715
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the Norrie disease gene.
Schuback DE; Chen ZY; Craig IW; Breakefield XO; Sims KB
Hum Mutat; 1995; 5(4):285-92. PubMed ID: 7627181
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic analysis of Indian patients with NDP-related retinopathies.
Sudha D; Ganapathy A; Mohan P; Mannan AU; Krishna S; Neriyanuri S; Swaminathan M; Rishi P; Chidambaram S; Arunachalam JP
Int Ophthalmol; 2018 Jun; 38(3):1251-1260. PubMed ID: 28602015
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel c.287G>T
Lin M; Lu Y; Sui Y; Ni X; Li H; Chen X; Zhao N; Jiang M
Ophthalmic Genet; 2020 Aug; 41(4):338-340. PubMed ID: 32393149
[TBL] [Abstract][Full Text] [Related]
13. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins.
Meindl A; Berger W; Meitinger T; van de Pol D; Achatz H; Dörner C; Haasemann M; Hellebrand H; Gal A; Cremers F
Nat Genet; 1992 Oct; 2(2):139-43. PubMed ID: 1303264
[TBL] [Abstract][Full Text] [Related]
14. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.
Shastry BS; Hejtmancik JF; Trese MT
Hum Mutat; 1997; 9(5):396-401. PubMed ID: 9143917
[TBL] [Abstract][Full Text] [Related]
15. Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.
Lenzner S; Prietz S; Feil S; Nuber UA; Ropers HH; Berger W
Invest Ophthalmol Vis Sci; 2002 Sep; 43(9):2825-33. PubMed ID: 12202498
[TBL] [Abstract][Full Text] [Related]
16. A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.
Parzefall T; Lucas T; Ritter M; Ludwig M; Ramsebner R; Frohne A; Schöfer C; Hengstschläger M; Frei K
Audiol Neurootol; 2014; 19(3):203-9. PubMed ID: 24801666
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy.
Kondo H; Qin M; Kusaka S; Tahira T; Hasebe H; Hayashi H; Uchio E; Hayashi K
Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1276-82. PubMed ID: 17325173
[TBL] [Abstract][Full Text] [Related]
18. Gene symbol: NDP. Disease: Norrie disease.
Riveiro-Alvarez R; Trujillo MJ; Gimenez A; Cantalapiedra D; Vallespin E; Villaverde C; Ayuso C
Hum Genet; 2006 Jul; 119(6):675. PubMed ID: 17128466
[No Abstract] [Full Text] [Related]
19. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
Jin H; May M; Tranebjaerg L; Kendall E; Fontán G; Jackson J; Subramony SH; Arena F; Lubs H; Smith S; Stevenson R; Schwartz C; Vetrie D
Nat Genet; 1996 Oct; 14(2):177-80. PubMed ID: 8841189
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity.
Dickinson JL; Sale MM; Passmore A; FitzGerald LM; Wheatley CM; Burdon KP; Craig JE; Tengtrisorn S; Carden SM; Maclean H; Mackey DA
Clin Exp Ophthalmol; 2006; 34(7):682-8. PubMed ID: 16970763
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]