160 related articles for article (PubMed ID: 16832026)
21. 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]
22. 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]
23. 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]
24. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Duncan JL; Talcott KE; Ratnam K; Sundquist SM; Lucero AS; Day S; Zhang Y; Roorda A
Invest Ophthalmol Vis Sci; 2011 Mar; 52(3):1557-66. PubMed ID: 21071739
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Anand S; Sheridan E; Cassidy F; Inglehearn C; Williams G; Springell K; Allgar V; Kelly TL; McKibbin M
Retina; 2009 May; 29(5):682-8. PubMed ID: 19262438
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
Pajic B; Weigell-Weber M; Schipper I; Kryenbühl C; Büchi ER; Spiegel R; Hergersberg M
Retina; 2006 Oct; 26(8):947-53. PubMed ID: 17031298
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.
Yang Z; Lin W; Moshfeghi DM; Thirumalaichary S; Li X; Jiang L; Zhang H; Zhang S; Kaiser PK; Traboulsi EI; Zhang K
Am J Ophthalmol; 2003 Feb; 135(2):213-8. PubMed ID: 12566026
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Central areolar choroidal dystrophy associated with inherited drusen in a multigeneration Tunisian family: exclusion of the PRPH2 gene and the 17p13 locus.
Ouechtati F; Belhadj Tahar O; Mhenni A; Chakroun S; Chouchene I; Oueslati S; Rebai A; Abdelhak S; Jeddi-Blouza A
J Hum Genet; 2009 Oct; 54(10):589-94. PubMed ID: 19696794
[TBL] [Abstract][Full Text] [Related]
38. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
Nakazawa M; Kikawa E; Kamio K; Chida Y; Shiono T; Tamai M
Arch Ophthalmol; 1994 Dec; 112(12):1567-73. PubMed ID: 7993211
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
Coco RM; Tellería JJ; Sanabria MR; Rodríguez-Rúa E; García MT
Eur J Ophthalmol; 2010; 20(4):724-32. PubMed ID: 20213611
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
