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Items: 1 to 20 of 92

1.

Inherited corneal disease: the evolving molecular, genetic and imaging revolution.

Vincent AL, Patel DV, McGhee CN.

Clin Exp Ophthalmol. 2005 Jun;33(3):303-16. Review.

PMID:
15932539
2.

Advances in the molecular genetics of corneal dystrophies.

Klintworth GK.

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

PMID:
10612512
3.

A molecular perspective on corneal dystrophies.

Vincent AL, Rootman D, Munier FL, Héon E.

Dev Ophthalmol. 2003;37:50-66. Review.

PMID:
12876829
4.

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
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.

[Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy].

Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker HE, Heinritz W, Froster U, Duncker G.

Klin Monbl Augenheilkd. 2006 Oct;223(10):829-36. German.

PMID:
17063427
7.

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF, Afshari NA.

Curr Opin Ophthalmol. 2006 Aug;17(4):361-6. Review.

PMID:
16900028
8.
9.

The genetics of the corneal dystrophies.

Aldave AJ.

Dev Ophthalmol. 2011;48:51-66. doi: 10.1159/000324077. Epub 2011 Apr 26. Review.

PMID:
21540631
10.

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review.

Vincent AL.

Clin Exp Ophthalmol. 2014 Jan-Feb;42(1):4-12. doi: 10.1111/ceo.12149. Epub 2013 Jul 31. Review.

PMID:
24433354
11.

Genetic disorders of the cornea: from research to practical diagnostic testing.

Klintworth GK.

Clin Exp Ophthalmol. 2005 Jun;33(3):231-2. No abstract available.

PMID:
15932524
12.

Genetics of anterior and stromal corneal dystrophies.

Poulaki V, Colby K.

Semin Ophthalmol. 2008 Jan-Feb;23(1):9-17. doi: 10.1080/08820530701745173. Review.

PMID:
18214787
13.

TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.

Vincent AL, de Karolyi B, Patel DV, Wheeldon CE, McGhee CN.

Br J Ophthalmol. 2010 Jul;94(7):836-42. doi: 10.1136/bjo.2009.159632. Epub 2009 Nov 30.

PMID:
19948560
14.

Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?

Aldave AJ, Sonmez B.

Arch Ophthalmol. 2007 Feb;125(2):177-86. Review.

PMID:
17296893
15.

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

Klintworth GK.

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

PMID:
12700042
16.

The changing face of the genetics of corneal dystrophies.

Siddiqui N, Afshari NA.

Curr Opin Ophthalmol. 2002 Aug;13(4):199-203. Review.

PMID:
12165700
17.

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, Beuerman RW, Mehta JS.

Ocul Surf. 2014 Oct;12(4):234-51. doi: 10.1016/j.jtos.2013.12.002. Epub 2014 Jul 18. Review.

PMID:
25284770
18.

TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.

Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, Kaur P, Dube D, Vajpayee RB.

Mol Vis. 2010 Jul 29;16:1429-38.

19.

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene.

Ołdak M, Szaflik JP, Ścieżyńska A, Udziela M, Maksym RB, Rymgayłło-Jankowska B, Hofmann-Rummelt C, Menzel-Severing J, Płoski R, Żarnowski T, Kruse FE, Szaflik J.

Cornea. 2014 Mar;33(3):294-9. doi: 10.1097/ICO.0000000000000062.

PMID:
24473223
20.

Exclusion of known corneal dystrophy genes in an autosomal dominant pedigree of a unique anterior membrane corneal dystrophy.

Vincent AL, Markie DM, De Karolyi B, Wheeldon CE, Patel DV, Grupcheva CN, McGhee CN.

Mol Vis. 2009 Aug 26;15:1700-8.

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