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 *

209 related articles for article (PubMed ID: 8025041)

  • 1. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
    Moore AT; Fitzke F; Jay M; Arden GB; Inglehearn CF; Keen TJ; Bhattacharya SS; Bird AC
    Br J Ophthalmol; 1993 Aug; 77(8):473-9. PubMed ID: 8025041
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
    Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
    Rosenfeld PJ; Hahn LB; Sandberg MA; Dryja TP; Berson EL
    Invest Ophthalmol Vis Sci; 1995 Oct; 36(11):2186-92. PubMed ID: 7558711
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.
    Apfelstedt-Sylla E; Kunisch M; Horn M; Rüther K; Gal A; Zrenner E
    Ger J Ophthalmol; 1992; 1(5):319-27. PubMed ID: 1477634
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.
    Apfelstedt-Sylla E; Kunisch M; Horn M; Rüther K; Gerding H; Gal A; Zrenner E
    Br J Ophthalmol; 1993 Aug; 77(8):495-501. PubMed ID: 8025047
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.
    Nakazawa M; Xu S; Gal A; Wada Y; Tamai M
    Arch Ophthalmol; 1996 Mar; 114(3):318-22. PubMed ID: 8600893
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ; Roman AJ; Weissbrod P; Macke JP; Nathans J
    Invest Ophthalmol Vis Sci; 1994 Jul; 35(8):3134-44. PubMed ID: 8045708
    [TBL] [Abstract][Full Text] [Related]  

  • 8. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
    Kemp CM; Jacobson SG; Cideciyan AV; Kimura AE; Sheffield VC; Stone EM
    Invest Ophthalmol Vis Sci; 1994 Jul; 35(8):3154-62. PubMed ID: 8045710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
    Owens SL; Fitzke FW; Inglehearn CF; Jay M; Keen TJ; Arden GB; Bhattacharya SS; Bird AC
    Br J Ophthalmol; 1994 May; 78(5):353-8. PubMed ID: 8025068
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
    Jacobson SG; Kemp CM; Cideciyan AV; Macke JP; Sung CH; Nathans J
    Invest Ophthalmol Vis Sci; 1994 Apr; 35(5):2521-34. PubMed ID: 8163341
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.
    Jacobson SG; Kemp CM; Sung CH; Nathans J
    Am J Ophthalmol; 1991 Sep; 112(3):256-71. PubMed ID: 1882937
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
    Reig CM; Trujillo JM; Martinez-Gimeno MM; Garcia-Sandoval BM; Calvo TM; Ayuso C; Carballo M
    Ophthalmic Genet; 2000 Jun; 21(2):79-87. PubMed ID: 10916182
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
    Evans K; al-Maghtheh M; Fitzke FW; Moore AT; Jay M; Inglehearn CF; Arden GB; Bird AC
    Br J Ophthalmol; 1995 Sep; 79(9):841-6. PubMed ID: 7488604
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene.
    Niemeyer G; Trüb P; Schinzel A; Gal A
    Doc Ophthalmol; 1992; 79(4):303-11. PubMed ID: 1633742
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
    Rosenfeld PJ; Cowley GS; McGee TL; Sandberg MA; Berson EL; Dryja TP
    Nat Genet; 1992 Jun; 1(3):209-13. PubMed ID: 1303237
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
    Kim RY; Fitzke FW; Moore AT; Jay M; Inglehearn C; Arden GB; Bhattacharya SS; Bird AC
    Br J Ophthalmol; 1995 Jan; 79(1):23-7. PubMed ID: 7880785
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.
    Kemp CM; Jacobson SG; Roman AJ; Sung CH; Nathans J
    Am J Ophthalmol; 1992 Feb; 113(2):165-74. PubMed ID: 1550184
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.
    Kremmer S; Eckstein A; Gal A; Apfelstedt-Sylla E; Wedemann H; Rüther K; Zrenner E
    Graefes Arch Clin Exp Ophthalmol; 1997 Sep; 235(9):575-83. PubMed ID: 9342608
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
    Abdulridha-Aboud W; Kjellström U; Andréasson S; Ponjavic V
    Mol Vis; 2016; 22():362-73. PubMed ID: 27212874
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.