PubMed

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.

Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C.

Br J Ophthalmol. 2004 Dec;88(12):1533-7.PMID: 15548806 [PubMed - indexed for MEDLINE]Related articlesFree article

Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.

Oh KT, Weleber RG, Lotery A, Oh DM, Billingslea AM, Stone EM.

Arch Ophthalmol. 2000 Sep;118(9):1269-76.PMID: 10980774 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 16565402 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family.

Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G.

Acta Ophthalmol Scand. 1997 Apr;75(2):218-23.PMID: 9197578 [PubMed - indexed for MEDLINE]Related articles

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.

Pannarale MR, Grammatico B, Iannaccone A, Forte R, DeBernardo C, Flagiello L, Vingolo EM, Del Porto G.

Ophthalmology. 1996 Sep;103(9):1443-52.PMID: 8841304 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 7724183 [PubMed - indexed for MEDLINE]Related articles

Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.

Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.

Ophthalmic Genet. 1998 Mar;19(1):27-37.PMID: 9587927 [PubMed - indexed for MEDLINE]Related articles

Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.

Tsui I, Chou CL, Palmer N, Lin CS, Tsang SH.

Curr Eye Res. 2008 Nov;33(11):1014-22.PMID: 19085385 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 9342608 [PubMed - indexed for MEDLINE]Related articles

Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.

Oh KT, Longmuir R, Oh DM, Stone EM, Kopp K, Brown J, Fishman GA, Sonkin P, Gehrs KM, Weleber RG.

Am J Ophthalmol. 2003 Aug;136(2):306-13.PMID: 12888054 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 11879142 [PubMed - indexed for MEDLINE]Related articlesFree article

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304.PMID: 17325176 [PubMed - indexed for MEDLINE]Related articlesFree article

The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa.

Sandberg MA, Weigel-DiFranco C, Rosner B, Berson EL.

Invest Ophthalmol Vis Sci. 1996 Jul;37(8):1693-8. Review.PMID: 8675413 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 8045708 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 11527933 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotype in two families with RP3 associated with RPGR mutations.

Lorenz B, Andrassi M, Kretschmann U.

Ophthalmic Genet. 2003 Jun;24(2):89-101.PMID: 12789573 [PubMed - indexed for MEDLINE]Related articles

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B.

Br J Ophthalmol. 2005 Oct;89(10):1258-64.PMID: 16170112 [PubMed - indexed for MEDLINE]Related articlesFree article

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. Epub 2008 Jul 18.PMID: 18641288 [PubMed - indexed for MEDLINE]Related articles

Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.

Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 1995 Aug;36(9):1934-42.PMID: 7635666 [PubMed - indexed for MEDLINE]Related articlesFree article

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

Millá E, Héon E, Grounauer PA, Piguet B, Ducrey N, Stone EM, Schorderet DF, Munier FL.

Ophthalmic Genet. 1998 Sep;19(3):131-9.PMID: 9810568 [PubMed - indexed for MEDLINE]Related articles