BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 10532447)

  • 1. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.
    Downes SM; Fitzke FW; Holder GE; Payne AM; Bessant DA; Bhattacharya SS; Bird AC
    Arch Ophthalmol; 1999 Oct; 117(10):1373-83. PubMed ID: 10532447
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
    Nakazawa M; Wada Y; Tamai M
    Retina; 1995; 15(6):518-23. PubMed ID: 8747448
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
    Wroblewski JJ; Wells JA; Eckstein A; Fitzke F; Jubb C; Keen TJ; Inglehearn C; Bhattacharya S; Arden GB; Jay M
    Ophthalmology; 1994 Jan; 101(1):12-22. PubMed ID: 8302543
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
    Gorin MB; Jackson KE; Ferrell RE; Sheffield VC; Jacobson SG; Gass JD; Mitchell E; Stone EM
    Ophthalmology; 1995 Feb; 102(2):246-55. PubMed ID: 7862413
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
    van Lith-Verhoeven JJ; van den Helm B; Deutman AF; Bergen AA; Cremers FP; Hoyng CB; de Jong PT
    Arch Ophthalmol; 2003 Oct; 121(10):1452-7. PubMed ID: 14557182
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant macular dystrophy in a large Canadian family.
    Donoso LA; Hageman G; Frost A; Sheffield V; Beck J; Hébert M; MacDonald IM
    Can J Ophthalmol; 2003 Feb; 38(1):33-40. PubMed ID: 12608515
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.
    Khani SC; Karoukis AJ; Young JE; Ambasudhan R; Burch T; Stockton R; Lewis RA; Sullivan LS; Daiger SP; Reichel E; Ayyagari R
    Invest Ophthalmol Vis Sci; 2003 Aug; 44(8):3570-7. PubMed ID: 12882809
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
    Nakazawa M; Naoi N; Wada Y; Nakazaki S; Maruiwa F; Sawada A; Tamai M
    Retina; 1996; 16(5):405-10. PubMed ID: 8912967
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
    Piguet B; Héon E; Munier FL; Grounauer PA; Niemeyer G; Butler N; Schorderet DF; Sheffield VC; Stone EM
    Ophthalmic Genet; 1996 Dec; 17(4):175-86. PubMed ID: 9010868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
    Nakazawa M; Kikawa E; Chida Y; Wada Y; Shiono T; Tamai M
    Arch Ophthalmol; 1996 Jan; 114(1):72-8. PubMed ID: 8540854
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
    Weleber RG; Carr RE; Murphey WH; Sheffield VC; Stone EM
    Arch Ophthalmol; 1993 Nov; 111(11):1531-42. PubMed ID: 8240110
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
    Fishman GA; Stone E; Gilbert LD; Vandenburgh K; Sheffield VC; Heckenlively JR
    Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
    Kim RY; Dollfus H; Keen TJ; Fitzke FW; Arden GB; Bhattacharya SS; Bird AC
    Arch Ophthalmol; 1995 Apr; 113(4):451-5. PubMed ID: 7710395
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
    Grover S; Fishman GA; Stone EM
    Ophthalmology; 2002 Jun; 109(6):1110-7. PubMed ID: 12045052
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.
    Fossarello M; Bertini C; Galantuomo MS; Cao A; Serra A; Pirastu M
    Arch Ophthalmol; 1996 Apr; 114(4):448-56. PubMed ID: 8602784
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.
    Keilhauer CN; Meigen T; Weber BH
    Arch Ophthalmol; 2006 Jul; 124(7):1020-7. PubMed ID: 16832026
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.
    Leroy BP; Kailasanathan A; De Laey JJ; Black GC; Manson FD
    Br J Ophthalmol; 2007 Jan; 91(1):89-93. PubMed ID: 16916875
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
    Michaelides M; Holder GE; Bradshaw K; Hunt DM; Moore AT
    Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
    Hoyng CB; Heutink P; Testers L; Pinckers A; Deutman AF; Oostra BA
    Am J Ophthalmol; 1996 Jun; 121(6):623-9. PubMed ID: 8644804
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.
    Sears JE; Aaberg TA; Daiger SP; Moshfeghi DM
    Am J Ophthalmol; 2001 Nov; 132(5):693-9. PubMed ID: 11704030
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.