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 *

212 related articles for article (PubMed ID: 2095030)

  • 1. Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.
    Berson EL
    Trans Am Ophthalmol Soc; 1990; 88():355-88. PubMed ID: 2095030
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).
    Berson EL; Rosner B; Sandberg MA; Dryja TP
    Arch Ophthalmol; 1991 Jan; 109(1):92-101. PubMed ID: 1987956
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
    Berson EL; Rosner B; Sandberg MA; Weigel-DiFranco C; Dryja TP
    Am J Ophthalmol; 1991 May; 111(5):614-23. PubMed ID: 2021172
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.
    Berson EL; Sandberg MA; Dryja TP
    Trans Am Ophthalmol Soc; 1991; 89():117-28; discussion 128-30. PubMed ID: 1808803
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.
    Heckenlively JR; Rodriguez JA; Daiger SP
    Arch Ophthalmol; 1991 Jan; 109(1):84-91. PubMed ID: 1987955
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
    Sullivan LJ; Makris GS; Dickinson P; Mulhall LE; Forrest S; Cotton RG; Loughnan MS
    Arch Ophthalmol; 1993 Nov; 111(11):1512-7. PubMed ID: 8240107
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
    Fishman GA; Stone EM; Gilbert LD; Kenna P; Sheffield VC
    Arch Ophthalmol; 1991 Oct; 109(10):1387-93. PubMed ID: 1929926
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
    Dryja TP; McGee TL; Hahn LB; Cowley GS; Olsson JE; Reichel E; Sandberg MA; Berson EL
    N Engl J Med; 1990 Nov; 323(19):1302-7. PubMed ID: 2215617
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.
    Fishman GA; Stone EM; Sheffield VC; Gilbert LD; Kimura AE
    Arch Ophthalmol; 1992 Jan; 110(1):54-62. PubMed ID: 1731723
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
    Dryja TP; McGee TL; Reichel E; Hahn LB; Cowley GS; Yandell DW; Sandberg MA; Berson EL
    Nature; 1990 Jan; 343(6256):364-6. PubMed ID: 2137202
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
    DeAngelis MM; Grimsby JL; Sandberg MA; Berson EL; Dryja TP
    Arch Ophthalmol; 2002 Mar; 120(3):369-75. PubMed ID: 11879142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Clinical features of Japanese family with autosomal dominant retinitis pigmentosa caused by point mutation in codon 347 of rhodopsin gene.
    Shiono T; Hotta Y; Noro M; Sakuma T; Tamai M; Hayakawa M; Hashimoto T; Fujiki K; Kanai A; Nakajima A
    Jpn J Ophthalmol; 1992; 36(1):69-75. PubMed ID: 1635298
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.
    Fishman GA; Vandenburgh K; Stone EM; Gilbert LD; Alexander KR; Sheffield VC
    Arch Ophthalmol; 1992 Nov; 110(11):1582-8. PubMed ID: 1444916
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.
    Fishman GA; Stone EM; Gilbert LD; Sheffield VC
    Arch Ophthalmol; 1992 May; 110(5):646-53. PubMed ID: 1580841
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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; RĂ¼ther K; Gerding H; Gal A; Zrenner E
    Br J Ophthalmol; 1993 Aug; 77(8):495-501. PubMed ID: 8025047
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa.
    Richards JE; Scott KM; Sieving PA
    Ophthalmology; 1995 Apr; 102(4):669-77. PubMed ID: 7724183
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL; Grimsby JL; Adams SM; McGee TL; Sweklo E; Pierce EA; Sandberg MA; Dryja TP
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.