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Results: 1 to 20 of 158

1.

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Kajiwara K, Berson EL, Dryja TP.

Science. 1994 Jun 10;264(5165):1604-8.

PMID:
8202715
[PubMed - indexed for MEDLINE]
2.

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

Dryja TP, Hahn LB, Kajiwara K, Berson EL.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1972-82.

PMID:
9331261
[PubMed - indexed for MEDLINE]
Free Article
3.

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

Bascom RA, Liu L, Heckenlively JR, Stone EM, McInnes RR.

Hum Mol Genet. 1995 Oct;4(10):1895-902.

PMID:
8595413
[PubMed - indexed for MEDLINE]
4.

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

Goldberg AF, Molday RS.

Proc Natl Acad Sci U S A. 1996 Nov 26;93(24):13726-30.

PMID:
8943002
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa.

Kedzierski W, Nusinowitz S, Birch D, Clarke G, McInnes RR, Bok D, Travis GH.

Proc Natl Acad Sci U S A. 2001 Jul 3;98(14):7718-23. Epub 2001 Jun 26.

PMID:
11427722
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance.

Runte M, Dekomien G, Epplen JT.

Anim Genet. 2000 Jun;31(3):223-7.

PMID:
10895316
[PubMed - indexed for MEDLINE]
7.

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.

Sakuma H, Inana G, Murakami A, Yajima T, Weleber RG, Murphey WH, Gass JD, Hotta Y, Hayakawa M, Fujiki K, et al.

Genomics. 1995 May 20;27(2):384-6. No abstract available.

PMID:
7558016
[PubMed - indexed for MEDLINE]
8.

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.

Grüning G, Millan JM, Meins M, Beneyto M, Caballero M, Apfelstedt-Sylla E, Bosch R, Zrenner E, Prieto F, Gal A.

Hum Mutat. 1994;3(3):321-3. No abstract available.

PMID:
8019570
[PubMed - indexed for MEDLINE]
9.

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R.

Clin Genet. 1996 Nov;50(5):380-7.

PMID:
9007328
[PubMed - indexed for MEDLINE]
10.

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

Jordan SA, Farrar GJ, Kumar-Singh R, Kenna P, Humphries MM, Allamand V, Sharp EM, Humphries P.

Am J Hum Genet. 1992 Mar;50(3):634-9.

PMID:
1539599
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.

Ray K, Acland GM, Aguirre GD.

Invest Ophthalmol Vis Sci. 1996 Apr;37(5):783-94.

PMID:
8603863
[PubMed - indexed for MEDLINE]
Free Article
13.

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.

PMID:
8485575
[PubMed - indexed for MEDLINE]
14.

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.

McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ.

Hum Mol Genet. 2002 May 1;11(9):1005-16.

PMID:
11978760
[PubMed - indexed for MEDLINE]
Free Article
15.

Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J.

Am J Ophthalmol. 1996 Jan;121(1):19-25.

PMID:
8554077
[PubMed - indexed for MEDLINE]
16.

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P.

Genomics. 1992 Nov;14(3):805-7. Erratum in: Genomics 1993 Feb;15(2):466.

PMID:
1427912
[PubMed - indexed for MEDLINE]
17.

Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation.

Bascom RA, Schappert K, McInnes RR.

Hum Mol Genet. 1993 Apr;2(4):385-91.

PMID:
8504299
[PubMed - indexed for MEDLINE]
18.

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno JC.

Curr Eye Res. 2009 Dec;34(12):1050-6. doi: 10.3109/02713680903283169.

PMID:
19958124
[PubMed - indexed for MEDLINE]
19.

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P.

Genomics. 1993 Feb;15(2):466. No abstract available.

PMID:
8449524
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
8956033
[PubMed - indexed for MEDLINE]
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