-
1
-
-
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;15:247-251.
-
(1997)
Nat Genet.
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djemai, A.3
-
2
-
-
17344365347
-
Mutation hot spots in 5q31-linked corneal dystrophies
-
Korvatska E, Munier FL, Djemai A, et al. Mutation hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet. 1998;62:320-324.
-
(1998)
Am J Hum Genet.
, vol.62
, pp. 320-324
-
-
Korvatska, E.1
Munier, F.L.2
Djemai, A.3
-
3
-
-
17744411573
-
A kerato-epithelin (big-h3) mutation in lattice corneal dystrophy type IIIA
-
Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (Big-h3) mutation in lattice corneal dystrophy type IIIA. Am J Hum Genet. 1998;62:719-722.
-
(1998)
Am J Hum Genet.
, vol.62
, pp. 719-722
-
-
Yamamoto, S.1
Okada, M.2
Tsujikawa, M.3
-
4
-
-
0032929438
-
A novel mutation at codon 124 (R124L) in the BIG-H3 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 BIG-H3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol. 1999;117:90-93.
-
(1999)
Arch Ophthalmol.
, vol.117
, pp. 90-93
-
-
Mashima, Y.1
Nakamura, Y.2
Noda, K.3
-
5
-
-
0028223723
-
Three autosomal-dominant corneal dystrophies map to chromosome 5q
-
Stone EM, Mathers WD, Rosenwasser GOD, et al. Three autosomal-dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6:47-51.
-
(1994)
Nat Genet.
, vol.6
, pp. 47-51
-
-
Stone, E.M.1
Mathers, W.D.2
Rosenwasser, G.O.D.3
-
6
-
-
0026783009
-
cDNA cloning and sequence analysis of BIG-H3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor β
-
Skonier J, Neubauer M, Madisen L, et al. cDNA cloning and sequence analysis of BIG-H3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor β. DNA Cell Biol. 1992;11:511-522.
-
(1992)
Dna Cell Biol.
, vol.11
, pp. 511-522
-
-
Skonier, J.1
Neubauer, M.2
Madisen, L.3
-
7
-
-
0024850313
-
Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology
-
Møller HU. Inter-familial variability and intra-familial similarities of granular corneal dystrophy Groenouw type I with respect to biomicroscopical appearance and symptomatology. Acta Ophthalmol, 1989;67:669-677.
-
(1989)
Acta Ophthalmol
, vol.67
, pp. 669-677
-
-
Møller, H.U.1
-
8
-
-
0242510198
-
Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea
-
Jones ST, Zimmerman LE. Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea. Am J Ophthalmol. 1961;51:394-410.
-
(1961)
Am J Ophthalmol.
, vol.51
, pp. 394-410
-
-
Jones, S.T.1
Zimmerman, L.E.2
-
9
-
-
0014836997
-
Granular dystrophy of the cornea: Characteristic electron microscopic lesion
-
Akiya S, Brown SI. Granular dystrophy of the cornea: characteristic electron microscopic lesion. Arch Ophthalmol. 1970;84:179-188.
-
(1970)
Arch Ophthalmol.
, vol.84
, pp. 179-188
-
-
Akiya, S.1
Brown, S.I.2
-
10
-
-
0021018570
-
Unusual superficial confluentform of granular corneal dystrophy
-
Rodrigues MM, Caster RN, Pratt MV. Unusual superficial confluentform of granular corneal dystrophy. Ophthalmology. 1983;90:1507-1511.
-
(1983)
Ophthalmology
, vol.90
, pp. 1507-1511
-
-
Rodrigues, M.M.1
Caster, R.N.2
Pratt, M.V.3
-
11
-
-
0026708690
-
Superficial juvenile granular dystrophy
-
Sajjadi SH, Javadi MA. Superficial juvenile granular dystrophy. Ophthalmology. 1992;99:95-102.
-
(1992)
Ophthalmology
, vol.99
, pp. 95-102
-
-
Sajjadi, S.H.1
Javadi, M.A.2
-
12
-
-
0023047540
-
Fluorescence detection in automated DNA sequence analysis
-
Smith LM, Sanders JZ, Kaiser RJ, et al. Fluorescence detection in automated DNA sequence analysis. Nature. 1986;321:674-679.
-
(1986)
Nature
, vol.321
, pp. 674-679
-
-
Smith, L.M.1
Sanders, J.Z.2
Kaiser, R.J.3
-
14
-
-
0026048333
-
Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease
-
Triggs-Raine BL, Akerman BR. Clarke JTR, et al. Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. Am J Hum Genet. 1991;49:1041-1054.
-
(1991)
Am J Hum Genet.
, vol.49
, pp. 1041-1054
-
-
Triggs-Raine, B.L.1
Akerman, B.R.2
Clarke, J.T.R.3
-
15
-
-
0031682083
-
A new L527R mutation of the big-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities
-
Fujiki K. Hotta Y, Nakayasu K, et al. A new L527R mutation of the Big-h3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103:286-289.
-
(1998)
Hum Genet.
, vol.103
, pp. 286-289
-
-
Fujiki, K.1
Hotta, Y.2
Nakayasu, K.3
-
16
-
-
18244411823
-
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene
-
Okada M, Yamamoto S, Watanabe H, et al. Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. Am J Ophthalmol. 1998;126: 169-176.
-
(1998)
Am J Ophthalmol.
, vol.126
, pp. 169-176
-
-
Okada, M.1
Yamamoto, S.2
Watanabe, H.3
-
17
-
-
0031682946
-
Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations
-
Okada M, Yamamoto S, Inoue Y, et al. Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations. Invest Ophthalmol Vis Sci. 1998;39:1947-1953.
-
(1998)
Invest Ophthalmol Vis Sci.
, vol.39
, pp. 1947-1953
-
-
Okada, M.1
Yamamoto, S.2
Inoue, Y.3
-
18
-
-
85047679031
-
Homozygotic patient with BIG-H3 gene mutation in granular dystrophy
-
Fujiki K, Hotta Y, Nakayasu K, Kanai A. Homozygotic patient with BIG-H3 gene mutation in granular dystrophy. Cornea. 1998;17:288-292.
-
(1998)
Cornea
, vol.17
, pp. 288-292
-
-
Fujiki, K.1
Hotta, Y.2
Nakayasu, K.3
Kanai, A.4
|