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 *

229 related articles for article (PubMed ID: 8302543)

  • 21. Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.
    Apfelstedt-Sylla E; Theischen M; Rüther K; Wedemann H; Gal A; Zrenner E
    Br J Ophthalmol; 1995 Jan; 79(1):28-34. PubMed ID: 7880786
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
    Fishman GA; Stone EM; Alexander KR; Gilbert LD; Derlacki DJ; Butler NS
    Ophthalmology; 1997 Feb; 104(2):299-306. PubMed ID: 9052636
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Morphology and functional characteristics in adult vitelliform macular dystrophy.
    Renner AB; Tillack H; Kraus H; Kohl S; Wissinger B; Mohr N; Weber BH; Kellner U; Foerster MH
    Retina; 2004 Dec; 24(6):929-39. PubMed ID: 15579992
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.
    Reig C; Serra A; Gean E; Vidal M; Arumí J; De la Calzada MD; Antich J; Carballo M
    Ophthalmic Genet; 1995 Jun; 16(2):39-44. PubMed ID: 7493155
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
    Wroblewski JJ; Wells JA; Eckstein A; Fitzke FW; Jubb C; Keen TJ; Inglehearn CF; Bhattacharya SS; Arden GB; Jay MR
    Br J Ophthalmol; 1994 Nov; 78(11):831-6. PubMed ID: 7848979
    [TBL] [Abstract][Full Text] [Related]  

  • 27. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
    Gamundi MJ; Hernan I; Muntanyola M; Trujillo MJ; García-Sandoval B; Ayuso C; Baiget M; Carballo M
    Mol Vis; 2007 Jun; 13():1031-7. PubMed ID: 17653047
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
    van Lith-Verhoeven JJ; Cremers FP; van den Helm B; Hoyng CB; Deutman AF
    Mol Vis; 2003 Apr; 9():138-43. PubMed ID: 12724643
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
    Keen TJ; Inglehearn CF
    Hum Mutat; 1996; 8(4):297-303. PubMed ID: 8956033
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report.
    Zhang K; Garibaldi DC; Li Y; Green WR; Zack DJ
    Arch Ophthalmol; 2002 Apr; 120(4):485-90. PubMed ID: 11934323
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. 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]  

  • 36. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
    Kajiwara K; Sandberg MA; Berson EL; Dryja TP
    Nat Genet; 1993 Mar; 3(3):208-12. PubMed ID: 8485575
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
    Bareil C; Hamel C; Arnaud B; Demaille J; Claustres M
    Ophthalmic Genet; 1997 Sep; 18(3):129-38. PubMed ID: 9361310
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
    Fujiki K; Hotta Y; Hayakawa M; Fujimaki T; Takeda M; Isashiki Y; Ohba N; Kanai A
    Jpn J Ophthalmol; 1998; 42(3):186-92. PubMed ID: 9690896
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
    Renner AB; Fiebig BS; Weber BH; Wissinger B; Andreasson S; Gal A; Cropp E; Kohl S; Kellner U
    Am J Ophthalmol; 2009 Mar; 147(3):518-530.e1. PubMed ID: 19038374
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
    Ekström U; Andréasson S; Ponjavic V; Abrahamson M; Sandgren O; Nilsson-Ehle P; Ehinger B
    Ophthalmic Genet; 1998 Sep; 19(3):149-56. PubMed ID: 9810570
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.