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2. 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]
3. 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]
4. Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Zuercher J; Fritzsche M; Feil S; Mohn L; Berger W Hum Mol Genet; 2012 Jun; 21(12):2619-30. PubMed ID: 22394677 [TBL] [Abstract][Full Text] [Related]
5. Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. Ohlmann A; Scholz M; Goldwich A; Chauhan BK; Hudl K; Ohlmann AV; Zrenner E; Berger W; Cvekl A; Seeliger MW; Tamm ER J Neurosci; 2005 Feb; 25(7):1701-10. PubMed ID: 15716406 [TBL] [Abstract][Full Text] [Related]
6. Long-term consequences of developmental vascular defects on retinal vessel homeostasis and function in a mouse model of Norrie disease. Beck SC; Feng Y; Sothilingam V; Garcia Garrido M; Tanimoto N; Acar N; Shan S; Seebauer B; Berger W; Hammes HP; Seeliger MW PLoS One; 2017; 12(6):e0178753. PubMed ID: 28575130 [TBL] [Abstract][Full Text] [Related]
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8. 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]
9. A novel frameshift c.22_25dupGCAT mutation of the NDP gene in a Chinese infant with Norrie disease: A case report. Wang H; Liu Z; Zhou Y; Ma Y; Tao D Medicine (Baltimore); 2022 Jan; 101(1):e28523. PubMed ID: 35029917 [TBL] [Abstract][Full Text] [Related]
10. The importance of biochemical and genetic findings in the diagnosis of atypical Norrie disease. Rodríguez-Muñoz A; García-García G; Menor F; Millán JM; Tomás-Vila M; Jaijo T Clin Chem Lab Med; 2018 Jan; 56(2):229-235. PubMed ID: 28742514 [TBL] [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. Differential gene expression in Ndph-knockout mice in retinal development. Schäfer NF; Luhmann UF; Feil S; Berger W Invest Ophthalmol Vis Sci; 2009 Feb; 50(2):906-16. PubMed ID: 18978344 [TBL] [Abstract][Full Text] [Related]
13. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Lev D; Weigl Y; Hasan M; Gak E; Davidovich M; Vinkler C; Leshinsky-Silver E; Lerman-Sagie T; Watemberg N Am J Med Genet A; 2007 May; 143A(9):921-4. PubMed ID: 17334993 [TBL] [Abstract][Full Text] [Related]
14. A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease. Andarva M; Jamshidi J; Ghaedi H; Daftarian N; Emamalizadeh B; Alehabib E; Taghavi S; Pouriran R; Darvish H Clin Exp Optom; 2018 Mar; 101(2):255-259. PubMed ID: 28922694 [TBL] [Abstract][Full Text] [Related]
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16. A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease. Liu D; Hu Z; Peng Y; Yu C; Liu Y; Mo X; Li X; Lu L; Xu X; Su W; Pan Q; Xia K Mol Vis; 2010 Dec; 16():2653-8. PubMed ID: 21179243 [TBL] [Abstract][Full Text] [Related]
17. Next-generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease. Huang X; Tian M; Li J; Cui L; Li M; Zhang J Indian J Ophthalmol; 2017 Nov; 65(11):1161-1165. PubMed ID: 29133643 [TBL] [Abstract][Full Text] [Related]
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