-
1
-
-
0033818425
-
Genetics of the corneal dystrophies; what we have learned in the past twenty-five years
-
Bron AJ. Genetics of the corneal dystrophies; what we have learned in the past twenty-five years. Cornea, 2000,19 J 699-711.
-
(2000)
Cornea
, vol.19
, Issue.J
, pp. 699-711
-
-
Bron, A.J.1
-
2
-
-
0033462204
-
Advances in the molecular genetics of corneal dystrophies
-
Klintworth GK. Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol,1999,128 747-754.
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 747-754
-
-
Klintworth, G.K.1
-
3
-
-
0039196271
-
Transforming growth factor- beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I
-
739-745
-
Takacs L, BorossP, TozserJ, etal. Transforming growth factor- beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. Exp Eye Res,1998,66 ' 739-745.
-
(1998)
Exp Eye Res
, pp. 66
-
-
Takacs, L.1
Boross, P.2
Tozser, J.3
-
4
-
-
0033106510
-
-
Kawasaki S, Nishida K, Quantock AJ, etal. Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type III A. Am} Ophthalmol,1999,127 : 456-458.
-
Kawasaki S, Nishida K, Quantock AJ, etal. Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type III A. Am} Ophthalmol,1999,127 : 456-458.
-
-
-
-
5
-
-
33645709434
-
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies; identification of a novel and unusual mutation (Valll3Ile) in a family with granular dystrophy
-
331-335
-
Zenteno JC, Ramirez-Miranda A, Santacruz-Valdes C, et al. Expanding the mutational spectrum in TGFBI-linked corneal dystrophies; identification of a novel and unusual mutation (Valll3Ile) in a family with granular dystrophy. Mol Vis,2006, 12 ? 331-335.
-
(2006)
Mol Vis
, pp. 12
-
-
Zenteno, J.C.1
Ramirez-Miranda, A.2
Santacruz-Valdes, C.3
-
6
-
-
39649124684
-
Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees
-
26-30
-
Alavi A, Elahi E, Rahmati-Kamel M, etal. Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees. Clin Experiment Ophthalmol,2008,36 = 26-30.
-
(2008)
Clin Experiment Ophthalmol
, pp. 36
-
-
Alavi, A.1
Elahi, E.2
Rahmati-Kamel, M.3
-
7
-
-
0033768208
-
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
-
842-845
-
Fujiki K, Hotta Y, Nakayasu K, etal. Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. Cornea,2000,19 ' 842-845.
-
(2000)
Cornea
, pp. 19
-
-
Fujiki, K.1
Hotta, Y.2
Nakayasu, K.3
-
8
-
-
18244404603
-
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing c- terminal fragments of keratoepithelin
-
•
-
Barbara S, Leber M, Bingemer P, etal. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing c- terminal fragments of keratoepithelin. Invest Ophthalmol Vis Sci, 2005,46 • 1133-1139.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 1133-1139
-
-
Barbara, S.1
Leber, M.2
Bingemer, P.3
-
9
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
247-251
-
Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet, 1997,15 ' 247-251.
-
(1997)
Nat Genet
, pp. 15
-
-
Munier, F.L.1
Korvatska, E.2
Djemai, A.3
-
10
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
151-155
-
Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet, 1988,78 ! 151-155.
-
(1988)
Hum Genet
, pp. 78
-
-
Cooper, D.N.1
Youssoufian, H.2
-
11
-
-
0346670134
-
A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies
-
Clout NJ, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis, 2003,9 : 440-448.
-
(2003)
Mol Vis
, vol.9
, pp. 440-448
-
-
Clout, N.J.1
Hohenester, E.2
-
13
-
-
33745728355
-
TGFBI gene mutations in corneal dystrophies
-
615-625
-
Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat,2006,27 ? 615-625.
-
(2006)
Hum Mutat
, pp. 27
-
-
Kannabiran, C.1
Klintworth, G.K.2
-
14
-
-
0038356459
-
H626R and R124C mutations of the TGFBI ( BIGH3 ) gene caused lattice corneal dystrophy in Vietnamese people
-
686-689
-
Chau HM, Ha NT, Cung LX, et al. H626R and R124C mutations of the TGFBI ( BIGH3 ) gene caused lattice corneal dystrophy in Vietnamese people. Br J Ophthalmol, 2003, 87 ! 686-689.
-
(2003)
Br J Ophthalmol
, pp. 87
-
-
Chau, H.M.1
Ha, N.T.2
Cung, L.X.3
-
15
-
-
33745323878
-
-
Dong WL, Zou LH.Pan ZQ, et al. Molecular genetic study on patients with lattice corneal dystrophy. Chin J Ophthalmol,2005, 41 = 523-526. 2005. 41 ' 523- 526. 1
-
Dong WL, Zou LH.Pan ZQ, et al. Molecular genetic study on patients with lattice corneal dystrophy. Chin J Ophthalmol,2005, 41 = 523-526. 2005. 41 ' 523- 526. "1
-
-
-
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