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 *

75 related articles for article (PubMed ID: 2081853)

  • 1. [Progressive cone dystrophy: electrophysiological changes in female carriers].
    Amzallag T; Puech B; Hache JC; François P
    J Fr Ophtalmol; 1990; 13(8-9):421-8. PubMed ID: 2081853
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
    Renner AB; Kellner U; Cropp E; Preising MN; MacDonald IM; van den Hurk JA; Cremers FP; Foerster MH
    Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
    Ebenezer ND; Michaelides M; Jenkins SA; Audo I; Webster AR; Cheetham ME; Stockman A; Maher ER; Ainsworth JR; Yates JR; Bradshaw K; Holder GE; Moore AT; Hardcastle AJ
    Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1891-8. PubMed ID: 15914600
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M; Wilkie SE; Jenkins S; Holder GE; Hunt DM; Moore AT; Webster AR
    Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Color vision defect as first symptom of progressive cone-rod dystrophy.
    Mäntyjärvi MI
    J Clin Neuroophthalmol; 1990 Dec; 10(4):266-70. PubMed ID: 2150845
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy.
    Ventura DF; Gualtieri M; Oliveira AG; Costa MF; Quiros P; Sadun F; de Negri AM; Salomão SR; Berezovsky A; Sherman J; Sadun AA; Carelli V
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2362-70. PubMed ID: 17460303
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".
    Michaelides M; Holder GE; Webster AR; Hunt DM; Bird AC; Fitzke FW; Mollon JD; Moore AT
    Br J Ophthalmol; 2005 Mar; 89(3):332-9. PubMed ID: 15722315
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB; Nagy D; Zabel T; Zrenner E; Wissinger B; Kohl S; Jägle H
    Br J Ophthalmol; 2008 Aug; 92(8):1086-91. PubMed ID: 18653602
    [TBL] [Abstract][Full Text] [Related]  

  • 10. PCD and RP: X-linked inheritance of both disorders?
    Krawczyński MR; Witt M
    Pediatr Pulmonol; 2004 Jul; 38(1):88-9. PubMed ID: 15170879
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked cone dysfunction syndrome with myopia and protanopia.
    Michaelides M; Johnson S; Bradshaw K; Holder GE; Simunovic MP; Mollon JD; Moore AT; Hunt DM
    Ophthalmology; 2005 Aug; 112(8):1448-54. PubMed ID: 15953640
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
    Smith M; Whittock N; Searle A; Croft M; Brewer C; Cole M
    Eye (Lond); 2007 Sep; 21(9):1220-5. PubMed ID: 17041576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. X linked progressive cone dystrophy with specific attention to carrier detection.
    van Everdingen JA; Went LN; Keunen JE; Oosterhuis JA
    J Med Genet; 1992 May; 29(5):291-4. PubMed ID: 1583654
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy.
    Keunen JE; van Everdingen JA; Went LN; Oosterhuis JA; van Norren D
    Arch Ophthalmol; 1990 Dec; 108(12):1713-9. PubMed ID: 2256842
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
    Jiang L; Katz BJ; Yang Z; Zhao Y; Faulkner N; Hu J; Baird J; Baehr W; Creel DJ; Zhang K
    Mol Vis; 2005 Feb; 11():143-51. PubMed ID: 15735604
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.
    Meire FM; Bergen AA; De Rouck A; Leys M; Delleman JW
    Br J Ophthalmol; 1994 Feb; 78(2):103-8. PubMed ID: 8123616
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S; Kamei S; Sénéćhal A; Lopez S; Bazalgette C; Bazalgette C; Eliaou CM; Zanlonghi X; Hamel CP
    Am J Ophthalmol; 2008 Jun; 145(6):1099-106. PubMed ID: 18400204
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography.
    Nagy D; Schönfisch B; Zrenner E; Jägle H
    Invest Ophthalmol Vis Sci; 2008 Oct; 49(10):4664-71. PubMed ID: 18566474
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked incomplete achromatopsia with more than one class of functional cones.
    Smith VC; Pokorny J; Delleman JW; Cozijnsen M; Houtman WA; Went LN
    Invest Ophthalmol Vis Sci; 1983 Apr; 24(4):451-7. PubMed ID: 6601089
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mixed photoreceptor dystrophy. Apropos of two cases].
    Lacotte JL; Cayrol P; Hany I; Levy P; Auch-Roy-Mainguy S
    Ophtalmologie; 1989; 3(3):235-6. PubMed ID: 2641121
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.