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Results: 1 to 20 of 100

1.

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.

Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071.

PMID:
19618371
[PubMed - indexed for MEDLINE]
Free PMC 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.

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
4.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.

J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.

PMID:
18317597
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
6.
7.

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
8.

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
9.

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]
10.

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]
11.

[Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa].

Lu SS, Zhao C, Cui Y, Li ND, Zhang XM, Zhao KX.

Zhonghua Yan Ke Za Zhi. 2005 Apr;41(4):305-11. Chinese.

PMID:
15924690
[PubMed - indexed for MEDLINE]
12.

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.

Xu F, Sui R, Liang X, Li H, Jiang R, Dong F.

Mol Vis. 2012;18:3021-xxx. Epub 2012 Dec 14.

PMID:
23288994
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

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
15.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88.

PMID:
17003455
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
17.

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]
18.

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]
19.

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
20.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Audo I, Bujakowska K, Mohand-Saïd S, Lancelot ME, Moskova-Doumanova V, Waseem NH, Antonio A, Sahel JA, Bhattacharya SS, Zeitz C.

BMC Med Genet. 2010 Oct 12;11:145. doi: 10.1186/1471-2350-11-145. Review.

PMID:
20939871
[PubMed - indexed for MEDLINE]
Free PMC Article

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