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Results: 1 to 20 of 104

1.

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4204-9.

PMID:
14507862
[PubMed - indexed for MEDLINE]
Free Article
2.

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]
Free Article
3.

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.

Hum Mutat. 2006 Jul;27(7):644-53.

PMID:
16708387
[PubMed - indexed for MEDLINE]
4.

Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.

Taira K, Nakazawa M, Sato M.

Jpn J Ophthalmol. 2007 Jan-Feb;51(1):45-8. Epub 2007 Feb 9.

PMID:
17295140
[PubMed - indexed for MEDLINE]
5.

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.

Rio Frio T, Civic N, Ransijn A, Beckmann JS, Rivolta C.

Hum Mol Genet. 2008 Oct 15;17(20):3154-65. doi: 10.1093/hmg/ddn212. Epub 2008 Jul 18.

PMID:
18640990
[PubMed - indexed for MEDLINE]
Free Article
6.

A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.

Saini S, Robinson PN, Singh JR, Vanita V.

Exp Eye Res. 2012 Nov;104:82-8. doi: 10.1016/j.exer.2012.09.010. Epub 2012 Oct 3.

PMID:
23041261
[PubMed - indexed for MEDLINE]
7.

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Xia K, Zheng D, Pan Q, Liu Z, Xi X, Hu Z, Deng H, Liu X, Jiang D, Deng H, Xia J.

Mol Vis. 2004 May 20;10:361-5.

PMID:
15162096
[PubMed - indexed for MEDLINE]
Free Article
8.

Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.

Köhn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O, Golovleva I.

Eur J Hum Genet. 2009 May;17(5):651-5. doi: 10.1038/ejhg.2008.223. Epub 2008 Dec 3.

PMID:
19050727
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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]
Free Article
10.

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

Bujakowska K, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna PF, Makarov E, Makarova O, Paquet-Durand F, Ekström PA, van Veen T, Leveillard T, Humphries P, Seeliger MW, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2.

PMID:
19578015
[PubMed - indexed for MEDLINE]
Free Article
11.

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C.

PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.

PMID:
23144630
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family.

Wang L, Ribaudo M, Zhao K, Yu N, Chen Q, Sun Q, Wang L, Wang Q.

Am J Med Genet A. 2003 Sep 1;121A(3):235-9.

PMID:
12923864
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

Sato H, Wada Y, Itabashi T, Nakamura M, Kawamura M, Tamai M.

Am J Ophthalmol. 2005 Sep;140(3):537-40.

PMID:
16139010
[PubMed - indexed for MEDLINE]
14.

PRPF31 alternative splicing and expression in human retina.

Tanackovic G, Rivolta C.

Ophthalmic Genet. 2009 Jun;30(2):76-83. doi: 10.1080/13816810902744621.

PMID:
19373678
[PubMed - indexed for MEDLINE]
15.

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.

Villanueva A, Willer JR, Bryois J, Dermitzakis ET, Katsanis N, Davis EE.

Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2121-9. doi: 10.1167/iovs.13-13827.

PMID:
24595387
[PubMed - indexed for MEDLINE]
16.

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

McGee TL, Devoto M, Ott J, Berson EL, Dryja TP.

Am J Hum Genet. 1997 Nov;61(5):1059-66.

PMID:
9345108
[PubMed - indexed for MEDLINE]
Free PMC Article
17.
18.

Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa.

Ivings L, Towns KV, Matin MA, Taylor C, Ponchel F, Grainger RJ, Ramesar RS, Mackey DA, Inglehearn CF.

Mol Vis. 2008;14:2357-66. Epub 2008 Dec 18.

PMID:
19096719
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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
20.

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS.

Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20.

PMID:
22723017
[PubMed - indexed for MEDLINE]
Free Article

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