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 *

144 related articles for article (PubMed ID: 18387409)

  • 1. Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.
    Khan AO; Aldahmesh MA; Meyer B
    Ophthalmology; 2008 Apr; 115(4):730-3. PubMed ID: 18387409
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular analysis of the NDP gene in two families with Norrie disease.
    Rivera-Vega MR; ChiƱas-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]  

  • 3. 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]  

  • 4. Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
    Allen RC; Russell SR; Streb LM; Alsheikheh A; Stone EM
    Eye (Lond); 2006 Feb; 20(2):234-41. PubMed ID: 15776010
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin.
    Mintz-Hittner HA; Ferrell RE; Sims KB; Fernandez KM; Gemmell BS; Satriano DR; Caster J; Kretzer FL
    Ophthalmology; 1996 Dec; 103(12):2128-34. PubMed ID: 9003348
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.
    Drenser KA; Dailey W; Capone A; Trese MT
    Ophthalmic Genet; 2006 Sep; 27(3):75-8. PubMed ID: 17050281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease.
    Warden SM; Andreoli CM; Mukai S
    Semin Ophthalmol; 2007; 22(4):211-7. PubMed ID: 18097984
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Twenty years of audiology in a patient with Norrie disease.
    Halpin C; Sims K
    Int J Pediatr Otorhinolaryngol; 2008 Nov; 72(11):1705-10. PubMed ID: 18817988
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A characteristic phenotypic retinal appearance in Norrie disease.
    Drenser KA; Fecko A; Dailey W; Trese MT
    Retina; 2007 Feb; 27(2):243-6. PubMed ID: 17290208
    [TBL] [Abstract][Full Text] [Related]  

  • 12. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
    Mintz-Hittner HA; Semina EV; Frishman LJ; Prager TC; Murray JC
    Ophthalmology; 2004 Apr; 111(4):828-36. PubMed ID: 15051220
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Recessive cornea plana in the Kingdom of Saudi Arabia.
    Khan AO; Aldahmesh M; Meyer B
    Ophthalmology; 2006 Oct; 113(10):1773-8. PubMed ID: 17011957
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing.
    Vajaranant TS; Fishman GA; Szlyk JP; Grant-Jordan P; Lindeman M; Seiple W
    Ophthalmology; 2008 Apr; 115(4):723-9. PubMed ID: 18201765
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Identification of two novel mutations in families with X-linked ocular albinism.
    Iannaccone A; Gallaher KT; Buchholz J; Jennings BJ; Neitz M; Sidjanin DJ
    Mol Vis; 2007 Oct; 13():1856-61. PubMed ID: 17960122
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.