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Results: 1 to 20 of 26

1.

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.

PMID:
24301936
[PubMed - indexed for MEDLINE]
Free Article
2.

Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.

Rachel RA, Nagashima K, O'Sullivan TN, Frost LS, Stefano FP, Marigo V, Boesze-Battaglia K.

PLoS One. 2012;7(9):e42446. doi: 10.1371/journal.pone.0042446. Epub 2012 Sep 11.

PMID:
22984402
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
22916221
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

VEP characteristics in children with achiasmia, in comparison to albino and healthy children.

Brecelj J, Sustar M, Pečarič-Meglič N, Skrbec M, Stirn-Kranjc B.

Doc Ophthalmol. 2012 Apr;124(2):109-23. doi: 10.1007/s10633-012-9315-4. Epub 2012 Feb 21.

PMID:
22350928
[PubMed - indexed for MEDLINE]
5.

Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Preising MN, Forster H, Gonser M, Lorenz B.

Mol Vis. 2011 Apr 15;17:939-48.

PMID:
21541274
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.

Mol Vis. 2010 Aug 9;16:1514-24.

PMID:
20806075
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

Martinez-Garcia M, Riveiro-Alvarez R, Villaverde-Montero C, Cantalapiedra D, Garcia-Sandoval B, Ayuso C, Trujillo-Tiebas MJ.

Clin Experiment Ophthalmol. 2010 Jul;38(5):489-95. doi: 10.1111/j.1442-9071.2010.02282.x.

PMID:
20649618
[PubMed - indexed for MEDLINE]
8.

Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision.

Kubal A, Dagnelie G, Goldberg M.

J AAPOS. 2009 Dec;13(6):610-2. doi: 10.1016/j.jaapos.2009.09.015.

PMID:
20006830
[PubMed - indexed for MEDLINE]
9.

Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism.

Chiang PW, Spector E, McGregor TL.

Am J Med Genet A. 2009 Dec;149A(12):2739-44. doi: 10.1002/ajmg.a.33128.

PMID:
19938076
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.

Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA.

Am J Med Genet A. 2009 Mar;149A(3):466-9. doi: 10.1002/ajmg.a.32654.

PMID:
19208379
[PubMed - indexed for MEDLINE]
13.

Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography.

Chong GT, Farsiu S, Freedman SF, Sarin N, Koreishi AF, Izatt JA, Toth CA.

Arch Ophthalmol. 2009 Jan;127(1):37-44. doi: 10.1001/archophthalmol.2008.550.

PMID:
19139336
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
18978956
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Protracted micro-nystagmus induced by video game play in a patient with mild ocular albinism.

Brown S.

Binocul Vis Strabismus Q. 2008;23(3):143-4. No abstract available.

PMID:
18811587
[PubMed - indexed for MEDLINE]
17.

Retinal function in X-linked ocular albinism (OA1).

Nusinowitz S, Sarraf D.

Curr Eye Res. 2008 Sep;33(9):789-803. doi: 10.1080/02713680802376353.

PMID:
18798082
[PubMed - indexed for MEDLINE]
18.

X-Linked ocular albinism; Nettleship-Falls ocular albinism.

Booth AV, Soldano AC, Levine J, Pomeranz M.

Dermatol Online J. 2008 May 15;14(5):4.

PMID:
18627740
[PubMed - indexed for MEDLINE]
19.

A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.

Hutton SM, Spritz RA.

Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72. doi: 10.1167/iovs.07-0791.

PMID:
18326704
[PubMed - indexed for MEDLINE]
Free Article
20.

New mutations identified in the ocular albinism type 1 gene.

Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M.

Gene. 2007 Nov 1;402(1-2):20-7. Epub 2007 Aug 1.

PMID:
17822861
[PubMed - indexed for MEDLINE]

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