PubMed

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

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Zhang X, Huang JF.

Chin Med Sci J. 2005 Mar;20(1):30-4.PMID: 15844309 [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

Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.

Acta Ophthalmol Scand. 2007 May;85(3):287-97.PMID: 17488458 [PubMed - indexed for MEDLINE]Related articles

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

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

[A novel rhodopsin E341ter mutation in patients with retinitis pigmentosa and corresponding clinical phenotype]

Xiong S, Zhao K, Wang L, Wang L, Cui Y, Chen W, Wang L, Wang Q.

Zhonghua Yan Ke Za Zhi. 2002 Apr;38(4):224-7. Chinese. PMID: 12133392 [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

[Genotype-phenotype correlation in Chinese patients with retinitis pigmentosa due to rhodopsin mutation]

Zhang Q, Zhang F, Xiao X, Li S, Shen H.

Yan Ke Xue Bao. 1999 Dec;15(4):204-6, 235. Chinese. PMID: 12579668 [PubMed - indexed for MEDLINE]Related articles

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Zhao K, Xiong S, Wang L, Wang L, Cui Y, Wang Q.

Ophthalmic Genet. 2001 Sep;22(3):155-62.PMID: 11559857 [PubMed - indexed for MEDLINE]Related articles

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

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4.PMID: 17325180 [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

Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

Reig CM, Trujillo JM, Martinez-Gimeno MM, Garcia-Sandoval BM, Calvo TM, Ayuso C, Carballo M.

Ophthalmic Genet. 2000 Jun;21(2):79-87.PMID: 10916182 [PubMed - indexed for MEDLINE]Related articles

Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.

Lim KP, Yip SP, Cheung SC, Leung KW, Lam ST, To CH.

Arch Ophthalmol. 2009 Jun;127(6):784-90.PMID: 19506198 [PubMed - indexed for MEDLINE]Related articles

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients.

Ayuso C, Trujillo MJ, Robledo M, Ramos C, Benitez J, Martín-Osés F, del Rio T, García-Sandoval B.

Hum Genet. 1996 Jul;98(1):51-4.PMID: 8682506 [PubMed - indexed for MEDLINE]Related articles

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

[Genetic analysis of rhodopsin and peripherin genes in patients with autosomal dominant retinitis pigmentosa (adRP) in Polish families]

Brzeziańska E, Zdzieszyńska M, Goś R, Lewiński A.

Klin Oczna. 2004;106(6):743-8. Polish. PMID: 15787173 [PubMed - indexed for MEDLINE]Related articles

Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin.

Apfelstedt-Sylla E, Kunisch M, Horn M, Rüther K, Gal A, Zrenner E.

Ger J Ophthalmol. 1992;1(5):319-27.PMID: 1477634 [PubMed - indexed for MEDLINE]Related articles

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.

Ophthalmic Genet. 2000 Dec;21(4):251-6.PMID: 11135497 [PubMed - indexed for MEDLINE]Related articles