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Results: 1 to 20 of 175

1.

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

Berson EL, Rosner B, Sandberg MA, Dryja TP.

Arch Ophthalmol. 1991 Jan;109(1):92-101.

PMID:
1987956
[PubMed - indexed for MEDLINE]
2.

Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.

Berson EL.

Trans Am Ophthalmol Soc. 1990;88:355-88. Review.

PMID:
2095030
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.

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

Am J Ophthalmol. 1991 May 15;111(5):614-23.

PMID:
2021172
[PubMed - indexed for MEDLINE]
4.

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.

Heckenlively JR, Rodriguez JA, Daiger SP.

Arch Ophthalmol. 1991 Jan;109(1):84-91.

PMID:
1987955
[PubMed - indexed for MEDLINE]
5.

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.

Kemp CM, Jacobson SG, Roman AJ, Sung CH, Nathans J.

Am J Ophthalmol. 1992 Feb 15;113(2):165-74.

PMID:
1550184
[PubMed - indexed for MEDLINE]
6.

Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.

Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE.

Arch Ophthalmol. 1992 Jan;110(1):54-62.

PMID:
1731723
[PubMed - indexed for MEDLINE]
7.

A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.

Sullivan LJ, Makris GS, Dickinson P, Mulhall LE, Forrest S, Cotton RG, Loughnan MS.

Arch Ophthalmol. 1993 Nov;111(11):1512-7.

PMID:
8240107
[PubMed - indexed for MEDLINE]
8.

Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC.

Arch Ophthalmol. 1991 Oct;109(10):1387-93.

PMID:
1929926
[PubMed - indexed for MEDLINE]
9.

Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.

Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC.

Ophthalmology. 1991 Dec;98(12):1806-13.

PMID:
1775314
[PubMed - indexed for MEDLINE]
10.

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL.

Nature. 1990 Jan 25;343(6256):364-6.

PMID:
2137202
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.

Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 1995 Oct;36(11):2186-92.

PMID:
7558711
[PubMed - indexed for MEDLINE]
Free Article
14.

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]
15.

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.

Fishman GA, Stone EM, Gilbert LD, Sheffield VC.

Arch Ophthalmol. 1992 May;110(5):646-53.

PMID:
1580841
[PubMed - indexed for MEDLINE]
16.

Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.

van den Born LI, van Schooneveld MJ, de Jong LA, Riemslag FC, de Jong PT, Gal A, Bleeker-Wagemakers EM.

Ophthalmic Genet. 1994 Jun;15(2):51-60.

PMID:
7850269
[PubMed - indexed for MEDLINE]
17.

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]
18.

Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.

Owens SL, Fitzke FW, Inglehearn CF, Jay M, Keen TJ, Arden GB, Bhattacharya SS, Bird AC.

Br J Ophthalmol. 1994 May;78(5):353-8.

PMID:
8025068
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

Fishman GA, Vandenburgh K, Stone EM, Gilbert LD, Alexander KR, Sheffield VC.

Arch Ophthalmol. 1992 Nov;110(11):1582-8.

PMID:
1444916
[PubMed - indexed for MEDLINE]
20.

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley DG, Humphries MM, Sharp EM, Inglehearn CF, Bashir R, Jay M, et al.

Am J Hum Genet. 1990 Dec;47(6):941-5.

PMID:
2239971
[PubMed - indexed for MEDLINE]
Free PMC Article

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