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.
3. Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. Liu J; Zhu J; Yang J; Zhang X; Zhang Q; Zhao P Mol Genet Genomic Med; 2019 Jan; 7(1):e00503. PubMed ID: 30474316 [TBL] [Abstract][Full Text] [Related]
4. Screening for NDP mutations in 44 unrelated patients with familial exudative vitreoretinopathy or Norrie disease. Yang H; Li S; Xiao X; Guo X; Zhang Q Curr Eye Res; 2012 Aug; 37(8):726-9. PubMed ID: 22563645 [TBL] [Abstract][Full Text] [Related]
5. Ocular manifestations of Norrie disease. Mozo Cuadrado M; Tabuenca Del Barrio L; Zubicoa Enériz A; Antonia Ardanaz Aldave M J Fr Ophtalmol; 2020 May; 43(5):439-441. PubMed ID: 32381368 [No Abstract] [Full Text] [Related]
6. Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. Wawrocka A; Niedziela Z; Skorczyk-Werner A; Krawczynski MR Klin Oczna; 2016; 118(3):231-4. PubMed ID: 30088388 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report. Younes ST; Shiflett JM; Weaver K; Smith A; Herrington B; Taylor C; Reddy K Ophthalmic Genet; 2021 Jun; 42(3):344-348. PubMed ID: 33641574 [No Abstract] [Full Text] [Related]
10. Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation. Wu LH; Chen LH; Xie H; Xie YJ Fetal Pediatr Pathol; 2017 Jun; 36(3):240-245. PubMed ID: 28394646 [TBL] [Abstract][Full Text] [Related]
11. Norrie disease: first mutation report and prenatal diagnosis in an Indian family. Ghosh M; Sharma S; Shastri S; Arora S; Shukla R; Gupta N; Deka D; Kabra M Indian J Pediatr; 2012 Nov; 79(11):1529-31. PubMed ID: 22674248 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Familial cases of Norrie disease detected by copy number analysis. Arai E; Fujimaki T; Yanagawa A; Fujiki K; Yokoyama T; Okumura A; Shimizu T; Murakami A Jpn J Ophthalmol; 2014 Sep; 58(5):448-54. PubMed ID: 25023092 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report. Marakhonov AV; Mishina IA; Kadyshev VV; Repina SA; Shurygina MF; Shchagina OA; Vasserman NN; Vasilyeva TA; Kutsev SI; Zinchenko RA BMC Med Genet; 2020 Oct; 21(Suppl 1):156. PubMed ID: 33092543 [TBL] [Abstract][Full Text] [Related]
16. Planned preterm delivery and treatment of retinal neovascularization in Norrie disease. Sisk RA; Hufnagel RB; Bandi S; Polzin WJ; Ahmed ZM Ophthalmology; 2014 Jun; 121(6):1312-3. PubMed ID: 24529712 [No Abstract] [Full Text] [Related]
17. 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]
18. A novel c.2T>A NDP missense mutation in a Chinese family with Norrie disease. Fangting L; Lvzhen H; Xiaoxin L Acta Ophthalmol; 2016 Sep; 94(6):e516-7. PubMed ID: 26547627 [No Abstract] [Full Text] [Related]
19. Epilepsy phenotypes in siblings with Norrie disease. Okumura A; Arai E; Kitamura Y; Abe S; Ikeno M; Fujimaki T; Yamamoto T; Shimizu T Brain Dev; 2015 Nov; 37(10):978-82. PubMed ID: 25944760 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]