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Items: 5

1.

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML.

Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201.

PMID:
18176953
2.

Differential diagnosis of Schnyder corneal dystrophy.

Weiss JS, Khemichian AJ.

Dev Ophthalmol. 2011;48:67-96. doi: 10.1159/000324078. Epub 2011 Apr 26. Review.

PMID:
21540632
3.

Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Yang J, Han X, Huang D, Yu L, Zhu Y, Tong Y, Zhu B, Li C, Weng M, Ma X.

Mol Vis. 2010 Jun 30;16:1186-93. Review.

4.

[Mutations in the keratin gene as a cause of Meesman-Wilke corneal dystrophy and autosomal dominant skin cornification disorders].

Swensson O, Swensson B, Nölle B, Rochels R, Wannke B, Thiel HJ.

Klin Monbl Augenheilkd. 2000 Jul;217(1):43-51. Review. German.

PMID:
10949816
5.

Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature.

Kodaganur SG, Kapoor S, Veerappa AM, Tontanahal SJ, Sarda A, Yathish S, Prakash DR, Kumar A.

Mol Vis. 2013 Aug 2;19:1694-706. Print 2013. Review.

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