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Results: 1 to 20 of 123

1.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS.

Hum Mutat. 2001;17(1):42-51.

PMID:
11139241
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

[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]
Free Article
3.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.

Am J Hum Genet. 1998 Nov;63(5):1307-15.

PMID:
9792858
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.

Shastry BS.

Am J Med Genet. 1994 Oct 1;52(4):467-74. Review.

PMID:
7747760
[PubMed - indexed for MEDLINE]
5.

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]
6.
7.

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.

Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.

Ophthalmology. 1995 Feb;102(2):246-55.

PMID:
7862413
[PubMed - indexed for MEDLINE]
8.

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP.

Mol Genet Metab. 2000 Jun;70(2):142-50.

PMID:
10873396
[PubMed - indexed for MEDLINE]
9.

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]
10.

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].

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

Yan Ke Xue Bao. 1998 Dec;14(4):210-4. Chinese.

PMID:
12579739
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
Free PMC Article
13.

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

Hamel CP, Griffoin JM, Bazalgette C, Lasquellec L, Duval PA, Bareil C, Beaufrère L, Bonnet S, Eliaou C, Marlhens F, Schmitt-Bernard CF, Tuffery S, Claustres M, Arnaud B.

J Fr Ophtalmol. 2000 Dec;23(10):985-95. French.

PMID:
11139690
[PubMed - indexed for MEDLINE]
Free Article
14.

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet DF, Munier F.

Klin Monbl Augenheilkd. 1998 May;212(5):305-8. French.

PMID:
9677563
[PubMed - indexed for MEDLINE]
15.

[Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].

Benítez Del Castillo JM, Trujillo MJ, Del Río T, García B, Ayuso C, García Sánchez J.

Arch Soc Esp Oftalmol. 2000 Apr;75(4):281-6. Spanish.

PMID:
11151159
[PubMed - indexed for MEDLINE]
Free Article
16.

Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.

Ekström U, Ponjavic V, Andréasson S, Ehinger B, Nilsson-Ehle P, Abrahamson M.

Mol Pathol. 1998 Oct;51(5):287-91.

PMID:
10193525
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola A, Rinaldi E, Banfi S.

J Med Genet. 2005 Jul;42(7):e47.

PMID:
15994872
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[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]
19.

Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).

Lam BL, Vandenburgh K, Sheffield VC, Stone EM.

Am J Ophthalmol. 1995 Jan;119(1):65-71.

PMID:
7825692
[PubMed - indexed for MEDLINE]
20.

Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients.

Kucinskas V, Payne AM, Ambrasiene D, Jurgelevicius V, Steponaviciūte D, Arciuliene JV, Daktaraviciene E, Bhattacharya S.

Hum Hered. 1999 Mar;49(2):71-4.

PMID:
10077725
[PubMed - indexed for MEDLINE]
Free Article

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