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Results: 1 to 20 of 96

Similar articles for PubMed (Select 23991373)

1.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.

Ma L, Sheng XL, Li HP, Zhang FX, Liu YN, Rong WN, Zhang JL.

Int J Ophthalmol. 2013 Aug 18;6(4):430-5. doi: 10.3980/j.issn.2222-3959.2013.04.04. eCollection 2013.

2.

[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
3.

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP.

Mol Vis. 2010 Jul 15;16:1353-60.

4.

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
5.

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Zhang X, Huang JF.

Chin Med Sci J. 2005 Mar;20(1):30-4.

PMID:
15844309
6.

Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.

Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.

Am J Ophthalmol. 2004 Jun;137(6):1137-9.

PMID:
15183808
7.

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
8.

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.

Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E.

Br J Ophthalmol. 2002 Mar;86(3):328-32.

9.

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
10.

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.

11.

[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
12.

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.

Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.

Mol Vis. 2012;18:2411-9. Epub 2012 Oct 3.

13.

Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa.

Roberts L, Bartmann L, Ramesar R, Greenberg J.

Mol Vis. 2006 Mar 15;12:177-83.

14.

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.

15.

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.

Li S, Xiao X, Wang P, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2010 Oct 8;401(1):42-7. doi: 10.1016/j.bbrc.2010.09.004. Epub 2010 Sep 9.

PMID:
20832389
16.

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
17.
18.

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.

Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP.

Hum Mutat. 2001 May;17(5):436.

PMID:
11317367
19.

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.

Nalbantoglu SM, Shahbazov C, Berdeli A.

OMICS. 2012 Jan-Feb;16(1-2):18-23. doi: 10.1089/omi.2011.0043.

PMID:
22321012
20.

RP1 protein truncating mutations predominate at the RP1 adRP locus.

Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.

Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4069-73.

PMID:
11095597
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