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Items: 1 to 20 of 112

1.

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
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.

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
4.

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.

5.

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.

6.

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
7.
8.

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
9.

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
10.

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.

12.
13.

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
14.

Imaging the microstructural abnormalities of meesmann corneal dystrophy by in vivo confocal microscopy.

Patel DV, Grupcheva CN, McGhee CN.

Cornea. 2005 Aug;24(6):669-73.

PMID:
16015084
15.

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.

Allen EH, Atkinson SD, Liao H, Moore JE, Leslie Pedrioli DM, Smith FJ, McLean WH, Moore CB.

Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):494-502. doi: 10.1167/iovs.12-10528.

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.

Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Chen JL, Lin BR, Gee KM, Gee JA, Chung DW, Frausto RF, Deng SX, Aldave AJ.

Mol Vis. 2015 Dec 31;21:1378-86. eCollection 2015.

18.

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
19.

Confocal microscopy in Bowman and stromal corneal dystrophies.

Werner LP, Werner L, Dighiero P, Legeais JM, Renard G.

Ophthalmology. 1999 Sep;106(9):1697-704.

PMID:
10485537
20.

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.

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