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    Results: 1 to 20 of 232

    1.

    A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy.

    Yoon MK, Warren JF, Holsclaw DS, Gritz DC, Margolis TP.

    Br J Ophthalmol. 2004 Jun;88(6):752-6.PMID: 15148206 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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.PMID: 10781519 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    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.PMID: 12084738 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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 [PubMed - indexed for MEDLINE]Related articles

    5.

    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 [PubMed - indexed for MEDLINE]Related articles

    6.

    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 [PubMed - indexed for MEDLINE]Related articles

    7.

    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.PMID: 17653038 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

    Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S.

    Am J Hum Genet. 1997 Dec;61(6):1268-75.PMID: 9399908 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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 [PubMed - indexed for MEDLINE]Related articles

    10.

    Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

    Chen YT, Tseng SH, Chao SC.

    Cornea. 2005 Nov;24(8):928-32.PMID: 16227835 [PubMed - indexed for MEDLINE]Related articles

    11.

    [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 [PubMed - indexed for MEDLINE]Related articles

    12.

    Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy.

    Aldave AJ, Yellore VS, Thonar EJ, Udar N, Warren JF, Yoon MK, Cohen EJ, Rapuano CJ, Laibson PR, Margolis TP, Small K.

    Am J Ophthalmol. 2004 Mar;137(3):465-73.PMID: 15013869 [PubMed - indexed for MEDLINE]Related articles

    13.

    A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

    Liovic M, Bowden PE, Marks R, Komel R.

    Exp Dermatol. 2004 May;13(5):332-4.PMID: 15140024 [PubMed - indexed for MEDLINE]Related articles

    14.

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

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

    Ophthalmic Genet. 2005 Dec;26(4):169-73.PMID: 16352477 [PubMed - indexed for MEDLINE]Related articles

    15.

    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.PMID: 18806880 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

    Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR.

    J Invest Dermatol. 1995 Mar;104(3):430-3.PMID: 7532199 [PubMed - indexed for MEDLINE]Related articles

    17.

    [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]

    Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI.

    Klin Monbl Augenheilkd. 2005 Dec;222(12):1017-23. German. PMID: 16380889 [PubMed - indexed for MEDLINE]Related articles

    18.

    Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.

    Lisch W, Büttner A, Oeffner F, Böddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K.

    Am J Ophthalmol. 2000 Oct;130(4):461-8.PMID: 11024418 [PubMed - indexed for MEDLINE]Related articles

    19.

    Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.

    Coleman CM, Munro CS, Smith FJ, Uitto J, McLean WH.

    Br J Dermatol. 1999 Mar;140(3):486-90.PMID: 10233272 [PubMed - indexed for MEDLINE]Related articles

    20.

    [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies]

    Jin T, Zou LH, Yang L, Dong WL, Yu J, Lu L.

    Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):32-4. Chinese. PMID: 14767905 [PubMed - indexed for MEDLINE]Related articles

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