Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 254

1.

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]
Free Article
2.

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]
Free Article
3.

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]
Free Article
4.

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]
Free PMC Article
5.

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.

Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97.

PMID:
9331262
[PubMed - indexed for MEDLINE]
Free Article
6.

Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.

Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.

Mol Vis. 2006 Oct 6;12:1167-74.

PMID:
17093403
[PubMed - indexed for MEDLINE]
Free Article
7.

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]
8.

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2005 May;46(5):1735-41.

PMID:
15851576
[PubMed - indexed for MEDLINE]
Free Article
9.

[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].

Wang DY, Fan BJ, Chan WM, Tam OS, Chiang WY, Lam SC, Pang CP.

Zhonghua Yi Xue Za Zhi. 2005 Jun 22;85(23):1613-7. Chinese.

PMID:
16185528
[PubMed - indexed for MEDLINE]
10.

[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa].

Zhang X, Yeung KY, Pang CP, Fu W.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Jun;19(3):194-7. Chinese.

PMID:
12048676
[PubMed - indexed for MEDLINE]
11.

A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.

Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.

Mol Vis. 2007 Aug 30;13:1548-54.

PMID:
17893654
[PubMed - indexed for MEDLINE]
Free Article
12.

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]
13.

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]
14.

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.

Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2236-42. doi: 10.1167/iovs.09-4437. Epub 2009 Nov 20.

PMID:
19933189
[PubMed - indexed for MEDLINE]
Free Article
15.

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]
16.

Screening for mutations in a novel retinal-specific gene among Chinese patients with retinitis pigmentosa.

Xiaoli Z, Weiling F, Pang CP, Yeung KY.

Chin Med Sci J. 2002 Dec;17(4):225-30.

PMID:
12901510
[PubMed - indexed for MEDLINE]
17.

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.

Ophthalmology. 2010 Nov;117(11):2169-77.e3. doi: 10.1016/j.ophtha.2010.02.029. Epub 2010 Jun 29.

PMID:
20591486
[PubMed - indexed for MEDLINE]
18.

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.

Hum Mutat. 2012 Jan;33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.

PMID:
22052604
[PubMed - indexed for MEDLINE]
19.

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]
Free Article
20.

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.

Gandra M, Anandula V, Authiappan V, Sundaramurthy S, Raman R, Bhattacharya S, Govindasamy K.

Mol Vis. 2008 Jun 14;14:1105-13.

PMID:
18552984
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk