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Items: 1 to 20 of 94

1.

A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family.

Lee JH, Ki CS, Chung ES, Chung TY.

Korean J Ophthalmol. 2012 Aug;26(4):301-5. doi: 10.3341/kjo.2012.26.4.301.

2.

A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.

Kim JH, Ko JM, Lee I, Kim JY, Kim MJ, Tchah H.

Cornea. 2011 Dec;30(12):1473-7. doi: 10.1097/ICO.0b013e3182137788.

PMID:
21993463
3.

Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.

Jing Y, Kumar PR, Zhu L, Edward DP, Tao S, Wang L, Chuck R, Zhang C.

Cornea. 2014 Mar;33(3):288-93. doi: 10.1097/ICO.0000000000000055.

PMID:
24413633
4.

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H.

Invest Ophthalmol Vis Sci. 2005 Feb;46(2):420-6.

PMID:
15671264
5.

A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.

Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H.

Am J Ophthalmol. 2006 Sep;142(3):520-1.

PMID:
16935612
6.
7.

A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 gene.

Lee YK, Chang DJ, Chung SK.

Korean J Ophthalmol. 2013 Dec;27(6):454-8. doi: 10.3341/kjo.2013.27.6.454.

8.
10.

[Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family].

Meins M, Kohlhaas M, Richard G, Gal A.

Klin Monbl Augenheilkd. 1998 Mar;212(3):154-8. German.

PMID:
9592740
11.

Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.

Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E.

Invest Ophthalmol Vis Sci. 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014.

PMID:
26029887
12.

Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy.

Bredrup C, Stang E, Bruland O, Palka BP, Young RD, Haavik J, Knappskog PM, Rødahl E.

Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5578-82. doi: 10.1167/iovs.09-4933.

PMID:
20484579
13.

[Macular corneal dystrophy including histologic and ultrastructural changes].

Wylegała E, Wróblewska EM, Grzybek H, Januszewski K, Przeworowska-Kawala M, Banyś W, Dobrowolski D, Jurewicz A.

Klin Oczna. 2004;106(1-2):68-71. Polish.

PMID:
15218769
14.

Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.

Van Ginderdeuren R, De Vos R, Casteels I, Foets B.

Cornea. 2002 Jan;21(1):118-20.

PMID:
11805522
15.

Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Cunnusamy K, Bowman CB, Beebe W, Gong X, Hogan RN, Mootha VV.

Cornea. 2016 Feb;35(2):281-5. doi: 10.1097/ICO.0000000000000670.

PMID:
26619383
16.

[Schnyder corneal dystrophy and juvenile, systemic hypercholesteremia].

Kohnen T, Pelton RW, Jones DB.

Klin Monbl Augenheilkd. 1997 Aug;211(2):135-7. German.

PMID:
9379642
17.

Absence of phenotype-genotype correlation of patients expressing mutations in the SLC4A11 gene.

Mehta JS, Hemadevi B, Vithana EN, Arunkumar J, Srinivasan M, Prajna V, Tan DT, Aung T, Sundaresan P.

Cornea. 2010 Mar;29(3):302-6. doi: 10.1097/ICO.0b013e3181ae9038.

PMID:
20118786
18.
19.

A new, X-linked endothelial corneal dystrophy.

Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR.

Am J Ophthalmol. 2006 Mar;141(3):478-487.

PMID:
16490493
20.

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

Auw-Haedrich C, Agostini H, Clausen I, Reinhard T, Eberwein P, Schorderet DF, Gruenauer-Kloevekorn C.

Ophthalmology. 2009 Jan;116(1):46-51. doi: 10.1016/j.ophtha.2008.08.050.

PMID:
19019446
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