Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 671

1.

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.

2.

[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
3.

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
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
5.

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
6.

Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.

Dai LL, Sun DW, Wang Z, Fu SB, Huang SZ, Zhang ZY, Zeng G, Peng SM.

Chin Med J (Engl). 2009 May 5;122(9):1097-101.

PMID:
19493447
7.

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
8.

Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.

Mol Vis. 2004 Nov 17;10:884-9.

9.

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
10.

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72.

PMID:
16877430
11.

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.

12.

[Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].

Xi XH, Zheng D, Xia K, Pan Q, Lei LY, Liu Z, Tang CZ, Xia JH, Jiang DY, Deng HX.

Zhonghua Yan Ke Za Zhi. 2005 Nov;41(11):1020-6. Chinese.

PMID:
16318756
13.

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF.

Hum Mol Genet. 2001 Jul 15;10(15):1555-62.

PMID:
11468273
14.

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
15.

Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.

Yang Y, Tian D, Lee J, Zeng J, Zhang H, Chen S, Guo H, Xiong Z, Xia K, Hu Z, Luo J.

Ophthalmic Genet. 2015 Mar;36(1):64-9. doi: 10.3109/13816810.2013.809458. Epub 2013 Jul 8.

PMID:
23834559
16.

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.

Hum Mutat. 1999;13(2):141-5.

PMID:
10094550
17.

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21.

PMID:
15277496
18.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS.

Hum Mol Genet. 2002 Jan 1;11(1):87-92.

PMID:
11773002
19.

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.

Hum Mutat. 2008 Jun;29(6):869-78. doi: 10.1002/humu.20747.

PMID:
18412284
20.

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

Hu ZM, Zheng D, Pan Q, Yang YF, Zhao TL, Liu XP, Wu LQ, Jiang DG, Xia K, Xia JH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Apr;21(2):97-100. Chinese.

PMID:
15079787

Supplemental Content

Support Center