PubMed

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.

Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E.

Br J Ophthalmol. 2002 Mar;86(3):328-32.PMID: 11864893 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS.

Hum Mol Genet. 1999 Oct;8(11):2121-8.PMID: 10484783 [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

Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.

Sheng X, Zhang X, Wu W, Zhuang W, Meng R, Rong W.

Can J Ophthalmol. 2008 Apr;43(2):208-12.PMID: 18347624 [PubMed - indexed for MEDLINE]Related articlesFree article

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.

Invest Ophthalmol Vis Sci. 2000 Jun;41(7):1898-908.PMID: 10845615 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.PMID: 12714658 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.

Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.

Hum Mutat. 2001 Jun;17(6):520.PMID: 11385710 [PubMed - indexed for MEDLINE]Related articles

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.PMID: 16799052 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.

Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.

Am J Ophthalmol. 2004 Jun;137(6):1137-9.PMID: 15183808 [PubMed - indexed for MEDLINE]Related articles

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M.

BMC Med Genet. 2006 Apr 5;7:35.PMID: 16597330 [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 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.PMID: 8058286 [PubMed - indexed for MEDLINE]Related articles

[Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)]

Millá E, Maseras M, Martínez-Gimeno M, Gamundi MJ, Assaf H, Esmerado C, Carballo M; Grupo Multicéntrico Español de Retinosis Pigmentaria.

Arch Soc Esp Oftalmol. 2002 Sep;77(9):481-4. Spanish. PMID: 12221539 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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 recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2264-70.PMID: 15980210 [PubMed - indexed for MEDLINE]Related articlesFree article

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73.PMID: 11095597 [PubMed - indexed for MEDLINE]Related articlesFree article

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

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.

Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM.

Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3593-7.PMID: 12882812 [PubMed - indexed for MEDLINE]Related articlesFree article