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Items: 1 to 20 of 130

1.

A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy.

Kawasaki S, Yamasaki K, Nakagawa H, Shinomiya K, Nakatsukasa M, Nakai Y, Kinoshita S.

Mol Vis. 2012;18:2954-60. Epub 2012 Dec 12.

2.

A novel PIKFYVE mutation in fleck corneal dystrophy.

Kotoulas A, Kokotas H, Kopsidas K, Droutsas K, Grigoriadou M, Bajrami H, Schorderet DF, Petersen MB.

Mol Vis. 2011;17:2776-81. Epub 2011 Oct 25.

3.

Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.

Gee JA, Frausto RF, Chung DW, Tangmonkongvoragul C, Le DJ, Wang C, Han J, Aldave AJ.

Mol Vis. 2015 Sep 17;21:1093-100. eCollection 2015.

6.

An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.

Gu Z, Zhao P, He G, Wan C, Ma G, Yu L, Zhang J, Feng G, He L, Gao L.

Mol Vis. 2011;17:3200-7. Epub 2011 Dec 13.

7.
8.

[Clinical characteristics and in vivo confocal microscopic imaging of Fleck corneal dystrophy].

Pan F, Yao YF, Nie X, Zhang B.

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2011 May;40(3):321-6. Chinese.

PMID:
21671495
9.

R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.

Blanco-Marchite C, Sánchez-Sánchez F, López-Sánchez E, Escribano J.

Mol Vis. 2007 Aug 10;13:1390-6.

PMID:
17768377
10.

Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.

Cao W, Ge H, Cui X, Zhang L, Bai J, Fu S, Liu P.

Mol Vis. 2009;15:70-5. Epub 2009 Jan 14.

11.

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Romero P, Vogel M, Diaz JM, Romero MP, Herrera L.

Mol Vis. 2008 May 7;14:829-35.

12.

TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.

Liang Q, Sun X, Jin X.

Ophthalmic Physiol Opt. 2012 Jan;32(1):74-80. doi: 10.1111/j.1475-1313.2011.00867.x. Epub 2011 Sep 8.

PMID:
21899585
13.

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Long Y, Gu YS, Han W, Li XY, Yu P, Qi M.

J Zhejiang Univ Sci B. 2011 Apr;12(4):287-92. doi: 10.1631/jzus.B1000154.

14.

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.

15.

In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.

Kobayashi A, Fujiki K, Murakami A, Sugiyama K.

Ophthalmology. 2009 Jun;116(6):1029-37.e1. doi: 10.1016/j.ophtha.2008.12.042. Epub 2009 Apr 25.

PMID:
19394700
16.
17.

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy.

Stewart H, Black GC, Donnai D, Bonshek RE, McCarthy J, Morgan S, Dixon MJ, Ridgway AA.

Ophthalmology. 1999 May;106(5):964-70.

PMID:
10328397
18.
19.

A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

Wheeldon CE, de Karolyi BH, Patel DV, Sherwin T, McGhee CN, Vincent AL.

Mol Vis. 2008 Aug 18;14:1503-12.

20.

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