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Items: 1 to 20 of 99

1.

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Sullivan LS, Baylin EB, Font R, Daiger SP, Pepose JS, Clinch TE, Nakamura H, Zhao XC, Yee RW.

Mol Vis. 2007 Jun 21;13:975-80.

2.

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

Szaflik JP, Ołdak M, Maksym RB, Kamińska A, Pollak A, Udziela M, Płoski R, Szaflik J.

Mol Vis. 2008 Sep 15;14:1713-8.

3.

Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.

Hassan H, Thaung C, Ebenezer ND, Larkin G, Hardcastle AJ, Tuft SJ.

Eye (Lond). 2013 Mar;27(3):367-73. doi: 10.1038/eye.2012.261. Epub 2012 Dec 7.

4.

[Analysis of mutation in KRT12 gene in a Chinese family with Meesmann's corneal dystrophy].

Wang LJ, Tian X, Zhang QS, Liu L.

Zhonghua Yan Ke Za Zhi. 2007 Oct;43(10):885-9. Chinese.

PMID:
18201524
5.

A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.

Seto T, Fujiki K, Kishishita H, Fujimaki T, Murakami A, Kanai A.

Jpn J Ophthalmol. 2008 May-Jun;52(3):224-6. doi: 10.1007/s10384-007-0518-2. Epub 2008 Jul 27.

PMID:
18661274
6.
7.

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.

Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJ, Black GC, McLean WH.

Br J Ophthalmol. 2002 Jul;86(7):729-32.

10.

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ, McLean WH.

Br J Ophthalmol. 2000 May;84(5):527-30.

11.

Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.

Nichini O, Manzi Vd, Munier FL, Schorderet DF.

Ophthalmic Genet. 2005 Dec;26(4):169-73.

PMID:
16352477
12.

Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.

Cao W, Yan M, Hao Q, Wang S, Wu L, Liu Q, Li M, Biddle FG, Wu W.

J Int Med Res. 2013 Apr;41(2):511-8. doi: 10.1177/0300060513477306. Epub 2013 Mar 12.

PMID:
23569037
13.

Phenotypic variability in Meesmann's dystrophy: clinical review of the literature and presentation of a family genetically identical to the original family.

Ehlers N, Hjortdal J, Nielsen K, Thiel HJ, Ørntoft T.

Acta Ophthalmol. 2008 Feb;86(1):40-4. Epub 2007 Nov 6. Review.

14.

siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy.

Courtney DG, Atkinson SD, Allen EH, Moore JE, Walsh CP, Pedrioli DM, MacEwen CJ, Pellegrini G, Maurizi E, Serafini C, Fantacci M, Liao H, Irvine AD, McLean WH, Moore CB.

Invest Ophthalmol Vis Sci. 2014 May 6;55(5):3352-60. doi: 10.1167/iovs.13-12957.

PMID:
24801514
15.

KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.

Ogasawara M, Matsumoto Y, Hayashi T, Ohno K, Yamada H, Kawakita T, Dogru M, Shimazaki J, Tsubota K, Tsuneoka H.

Am J Ophthalmol. 2014 Jan;157(1):93-102.e1. doi: 10.1016/j.ajo.2013.08.008. Epub 2013 Oct 5.

PMID:
24099278
16.

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.

Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH.

Am J Ophthalmol. 1999 Dec;128(6):687-91.

PMID:
10612503
17.

Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy.

Takahashi K, Takahashi K, Murakami A, Okisaka S, Kimura T, Kanai A.

Jpn J Ophthalmol. 2002 Nov-Dec;46(6):673-4.

PMID:
12543196
18.

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH.

Exp Eye Res. 2000 Jan;70(1):41-9.

PMID:
10644419
19.

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.

Nielsen K, Orntoft T, Hjortdal J, Rasmussen T, Ehlers N.

Cornea. 2008 Jan;27(1):100-2. doi: 10.1097/ICO.0b013e31815652fd.

PMID:
18245975
20.

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH.

Nat Genet. 1997 Jun;16(2):184-7.

PMID:
9171831
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