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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 21179243)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [Analysis of the NDP gene in a Chinese family with X-linked recessive Norrie disease].
    Mei L; Huang Y; Pan Q; Liang D; Wu L
    Zhonghua Yan Ke Za Zhi; 2015 May; 51(5):360-3. PubMed ID: 26311697
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. [Analysis of gene mutation in a Chinese family with Norrie disease].
    Zhang TX; Zhao XL; Hua R; Zhang JS; Zhang X
    Zhonghua Yan Ke Za Zhi; 2012 Sep; 48(9):815-8. PubMed ID: 23141577
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
    Jiang K; Wang S; Sun H; Peng C; Li N; Li S; Gao R; Zhang J
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2345. PubMed ID: 38146894
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 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. 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]  

  • 15. 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]  

  • 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. [Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].
    Yang F; Xiang J; Li H; Zhang Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):25-27. PubMed ID: 31922590
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.
    Jia LY; Ma K
    BMC Ophthalmol; 2021 Feb; 21(1):84. PubMed ID: 33588793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.