-
1
-
-
33846958072
-
Elucidating the molecular genetic basis of the corneal dystrophies: Are we there yet?
-
Aldave AJ, Sonmez B. Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet? Arch Ophthalmol 2007;125:177-86.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 177-186
-
-
Aldave, A.J.1
Sonmez, B.2
-
2
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
Munier FL, Korvatska E, Djemai A, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247-51.
-
(1997)
Nat Genet
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djemai, A.3
-
3
-
-
0028145930
-
CDNA from human ocular ciliary epithelium homologous to betaig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium
-
Escribano J, Hernando N, Ghosh S, et al. cDNA from human ocular ciliary epithelium homologous to beta IG-H3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 1994;160:511-21. (Pubitemid 24288909)
-
(1994)
Journal of Cellular Physiology
, vol.160
, Issue.3
, pp. 511-521
-
-
Escribano, J.1
Hernando, N.2
Ghosh, S.3
Crabb, J.4
Coca-Prados, M.5
-
4
-
-
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;9:440-8.
-
(2003)
Mol Vis
, vol.9
, pp. 440-448
-
-
Clout, N.J.1
Hohenester, E.2
-
5
-
-
0038356459
-
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
-
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;87:686-9.
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 686-689
-
-
Chau, H.M.1
Ha, N.T.2
Cung, L.X.3
-
6
-
-
0032929438
-
A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy
-
Mashima Y, Nakamura Y, Noda K, et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol 1999;117:90-3.
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 90-93
-
-
Mashima, Y.1
Nakamura, Y.2
Noda, K.3
-
7
-
-
9244265016
-
TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine
-
Pampukha VM, Drozhyna GI, Livshits LA. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. Ophthalmologica 2004;218:411-14.
-
(2004)
Ophthalmologica
, vol.218
, pp. 411-414
-
-
Pampukha, V.M.1
Drozhyna, G.I.2
Livshits, L.A.3
-
8
-
-
33645709434
-
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: Identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy
-
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 (Val113Ile) in a family with granular dystrophy. Mol Vis 2006;12:331-5.
-
(2006)
Mol Vis
, vol.12
, pp. 331-335
-
-
Zenteno, J.C.1
Ramirez-Miranda, A.2
Santacruz-Valdes, C.3
-
9
-
-
65349167054
-
The IC3D classification of the corneal dystrophies
-
Weiss JS, Moller HU, Lisch W, et al. The IC3D classification of the corneal dystrophies. Cornea 2008;27(Suppl 2):S1-83.
-
(2008)
Cornea
, vol.27
, Issue.SUPPL. 2
-
-
Weiss, J.S.1
Moller, H.U.2
Lisch, W.3
-
10
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
12
-
-
55949085267
-
A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer
-
Wheeldon CE, de Karolyi BH, Patel DV, et al. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. Mol Vis 2008;14:1503-12.
-
(2008)
Mol Vis
, vol.14
, pp. 1503-1512
-
-
Wheeldon, C.E.1
De Karolyi, B.H.2
Patel, D.V.3
-
13
-
-
0034766080
-
Microstructural assessment of rare corneal dystrophies using real-time in vivo confocal microscopy
-
Grupcheva CN, Malik TY, Craig JP, et al. Microstructural assessment of rare corneal dystrophies using real-time in vivo confocal microscopy. Clin Experiment Ophthalmol 2001;29:281-5.
-
(2001)
Clin Experiment Ophthalmol
, vol.29
, pp. 281-285
-
-
Grupcheva, C.N.1
Malik, T.Y.2
Craig, J.P.3
-
14
-
-
77954285729
-
-
Statistics New Zealand. NZ Census 2001, 2001. http://www.stats.govt.nz/ census.htm.
-
(2001)
NZ Census 2001
-
-
-
15
-
-
33744968013
-
A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
-
Boutboul S, Black GC, Moore JE, et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat 2006;27:553-7.
-
(2006)
Hum Mutat
, vol.27
, pp. 553-557
-
-
Boutboul, S.1
Black, G.C.2
Moore, J.E.3
-
16
-
-
0007913370
-
New hereditary-familial dystrophy of the corneal parenchyma (spotted hereditary dystrophy)
-
In French
-
Francois J, Neetens A. [New hereditary-familial dystrophy of the corneal parenchyma (spotted hereditary dystrophy).] (In French.). Bull Soc Belge Ophtalmol 1957;114:641-6.
-
(1957)
Bull Soc Belge Ophtalmol
, vol.114
, pp. 641-646
-
-
Francois, J.1
Neetens, A.2
-
18
-
-
0037363446
-
In vivo confocal microscopy of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy
-
Holopainen JM, Moilanen JA, Tervo TM. In vivo confocal microscopy of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy. Cornea 2003;22:160-3.
-
(2003)
Cornea
, vol.22
, pp. 160-163
-
-
Holopainen, J.M.1
Moilanen, J.A.2
Tervo, T.M.3
-
19
-
-
20544452085
-
Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy
-
Li S, Tiab L, Jiao X, et al. Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy. Am J Hum Genet 2005;77:54-63.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 54-63
-
-
Li, S.1
Tiab, L.2
Jiao, X.3
-
20
-
-
0013882029
-
Dystrophy of the anterior limiting membrane of the cornea (Reis-Buckler type)
-
Grayson M, Wilbrandt H. Dystrophy of the anterior limiting membrane of the cornea (Reis-Buckler type). Am J Ophthalmol 1966;61:345-9.
-
(1966)
Am J Ophthalmol
, vol.61
, pp. 345-349
-
-
Grayson, M.1
Wilbrandt, H.2
-
22
-
-
0034064766
-
Corneal guttata associated with the corneal dystrophy resulting from a beta ig-h3 R124H mutation
-
Akimune C, Watanabe H, Maeda N, et al. Corneal guttata associated with the corneal dystrophy resulting from a beta ig-h3 R124H mutation. Br J Ophthalmol 2000;84:67-71.
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 67-71
-
-
Akimune, C.1
Watanabe, H.2
Maeda, N.3
-
23
-
-
33745544253
-
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
-
Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet 2006;38:755-7.
-
(2006)
Nat Genet
, vol.38
, pp. 755-757
-
-
Vithana, E.N.1
Morgan, P.2
Sundaresan, P.3
-
24
-
-
62149141789
-
Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation
-
Kamal KM, Rayner SA, Chen MC, et al. Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation. Cornea 2009;28:97-8.
-
(2009)
Cornea
, vol.28
, pp. 97-98
-
-
Kamal, K.M.1
Rayner, S.A.2
Chen, M.C.3
-
25
-
-
34547213413
-
De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy
-
Hilton EN, Black GC, Manson FD, et al. De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy. Br J Ophthalmol 2007;91:1083-4.
-
(2007)
Br J Ophthalmol
, vol.91
, pp. 1083-1084
-
-
Hilton, E.N.1
Black, G.C.2
Manson, F.D.3
-
26
-
-
33645865832
-
Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene
-
Tanhehco TY, Eifrig DE Jr, Schwab IR, et al. Two cases of Reis-Bucklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol 2006;124:589-93.
-
(2006)
Arch Ophthalmol
, vol.124
, pp. 589-593
-
-
Tanhehco, T.Y.1
Eifrig Jr., D.E.2
Schwab, I.R.3
|