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Items: 1 to 20 of 127

1.

A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

Yan N, Liao X, Cai SP, Lan C, Wang Y, Zhou X, Yin Y, Yu W, Liu X.

PLoS One. 2012;7(8):e43177. doi: 10.1371/journal.pone.0043177. Epub 2012 Aug 20.

2.

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.

Hu J, Liang D, Xue J, Liu J, Wu L.

Mol Vis. 2011 Mar 12;17:715-22.

3.

A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.

Cai CY, Zhu H, Shi W, Su L, Shi O, Cai CQ, Ling C, Li WD.

Genet Mol Res. 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16.

4.

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q.

Mol Vis. 2008;14:1974-82. Epub 2008 Oct 30.

5.

Identification of a novel mutation in a Chinese family with X-linked ocular albinism.

Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S.

Eur J Ophthalmol. 2009 Jan-Feb;19(1):124-8.

PMID:
19123159
6.

GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N.

Sci Rep. 2015 Jul 10;5:12031. doi: 10.1038/srep12031.

8.

Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation.

Xiao X, Zhang Q.

Am J Med Genet A. 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818.

PMID:
19610097
9.

Deep intronic GPR143 mutation in a Japanese family with ocular albinism.

Naruto T, Okamoto N, Masuda K, Endo T, Hatsukawa Y, Kohmoto T, Imoto I.

Sci Rep. 2015 Jun 10;5:11334. doi: 10.1038/srep11334.

10.

[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].

Zhao Q, Guan M, Wang L, Liao Y, Li-Ling J, Wan H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):224-227. doi: 10.3760/cma.j.issn.1003-9406.2017.02.016. Chinese.

PMID:
28397224
11.

Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK.

J Hum Genet. 2007;52(6):565-70. Epub 2007 May 22.

PMID:
17516023
12.

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G.

Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030.

PMID:
19604113
13.

A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus.

Hu Y, Shen J, Zhang S, Yang T, Huang S, Yuan H.

Mol Vis. 2012;18:87-91. Epub 2012 Jan 13.

14.

A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.

Peng Y, Meng Y, Wang Z, Qin M, Li X, Dian Y, Huang S.

Mol Vis. 2009;15:810-4. Epub 2009 Apr 22.

15.

A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family.

Liu J, Jia Y, Wang L, Bu J.

Indian J Ophthalmol. 2016 Nov;64(11):813-817. doi: 10.4103/0301-4738.195593.

16.

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T.

Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9.

PMID:
22486324
17.

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.

18.

Identification of two novel mutations in families with X-linked ocular albinism.

Iannaccone A, Gallaher KT, Buchholz J, Jennings BJ, Neitz M, Sidjanin DJ.

Mol Vis. 2007 Oct 2;13:1856-61.

PMID:
17960122
19.

A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient.

Pan Q, Yi C, Xu T, Liu J, Jing X, Hu B, Wang Y.

Acta Ophthalmol. 2016 Jun;94(4):417-8. doi: 10.1111/aos.12854. Epub 2015 Nov 7. No abstract available.

20.

GPR143 mutations in Chinese patients with ocular albinism type 1.

Jia X, Yuan J, Jia X, Ling S, Li S, Guo X.

Mol Med Rep. 2017 May;15(5):3069-3075. doi: 10.3892/mmr.2017.6366. Epub 2017 Mar 23.

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