Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 15

1.

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
2.

[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
3.

The molecular genetics of keratin disorders.

Smith F.

Am J Clin Dermatol. 2003;4(5):347-64. Review.

PMID:
12688839
4.
5.

A new clinical perspective of corneal dystrophies through molecular genetics.

Gupta SK, Hodge WG.

Curr Opin Ophthalmol. 1999 Aug;10(4):234-41. Review.

PMID:
10621529
6.

Unilateral Meesmann's dystrophy.

Goldberg A, Schlötzer-Schrehardt U, Seiler T.

Int Ophthalmol. 1997;21(3):117-20. Review.

PMID:
9587826
7.

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.

8.

[Corneal dystrophies in the light of modern molecular genetic research].

Auw-Hädrich C, Witschel H.

Ophthalmologe. 2002 Jun;99(6):418-26. Review. German.

PMID:
12125408
9.

Keratins and skin disorders.

Lane EB, McLean WH.

J Pathol. 2004 Nov;204(4):355-66. Review.

PMID:
15495218
10.

Advances in the molecular genetics of corneal dystrophies.

Klintworth GK.

Am J Ophthalmol. 1999 Dec;128(6):747-54. Review.

PMID:
10612512
11.

The molecular genetics of the corneal dystrophies--current status.

Klintworth GK.

Front Biosci. 2003 May 1;8:d687-713. Review.

PMID:
12700042
12.

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA.

Br J Dermatol. 2001 Aug;145(2):330-5. Review.

PMID:
11531804
13.

Keratin disorders: from gene to therapy.

McLean WH, Moore CB.

Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Review.

PMID:
21890491
14.

Macular corneal dystrophy-a localized disorder of mucopolysaccharides metabolism?

Klintworth GK.

Prog Clin Biol Res. 1982;82:69-101. Review. No abstract available.

PMID:
6810373
15.

A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.

Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H.

J Invest Dermatol. 1998 Nov;111(5):896-9. Review.

Supplemental Content

Support Center