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5. Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene. Dhingra S; Shears DJ; Blake V; Stewart H; Patel CK Br J Ophthalmol; 2006 Oct; 90(10):1324-5. PubMed ID: 16980647 [No Abstract] [Full Text] [Related]
6. 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]
7. A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. Jia B; Huang L; Chen Y; Liu S; Chen C; Xiong K; Song L; Zhou Y; Yang X; Zhong M J Genet; 2017 Dec; 96(6):1015-1020. PubMed ID: 29321361 [TBL] [Abstract][Full Text] [Related]
8. A novel missense Norrie disease mutation associated with a severe ocular phenotype. Khan AO; Shamsi FA; Al-Saif A; Kambouris M J Pediatr Ophthalmol Strabismus; 2004; 41(6):361-3. PubMed ID: 15609522 [TBL] [Abstract][Full Text] [Related]
9. Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog. Joyce H; Burmeister LM; Wright H; Fleming L; Oliver JAC; Mellersh C PLoS One; 2021; 16(5):e0251071. PubMed ID: 33945575 [TBL] [Abstract][Full Text] [Related]
10. Bilateral persistent fetal vasculature due to a mutation in the Norrie disease protein gene. Payabvash S; Anderson JS; Nascene DR Neuroradiol J; 2015 Dec; 28(6):623-7. PubMed ID: 26459204 [TBL] [Abstract][Full Text] [Related]
11. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Sandberg MA; Rosner B; Weigel-DiFranco C; Dryja TP; Berson EL Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1298-304. PubMed ID: 17325176 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
17. 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]
18. 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]
19. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Meindl A; Lorenz B; Achatz H; Hellebrand H; Schmitz-Valckenberg P; Meitinger T Hum Mol Genet; 1995 Mar; 4(3):489-90. PubMed ID: 7795608 [No Abstract] [Full Text] [Related]
20. 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] [Next] [New Search]