-
1
-
-
0038356459
-
H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people
-
Chau H. M., Ha N. T., Cung L. X., Thanh T. K., Fujiki K., Murakami A. et al. 2003 H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. Br. J. Ophthalmol. 87, 686-689.
-
(2003)
Br. J. Ophthalmol.
, vol.87
, pp. 686-689
-
-
Chau, H.M.1
Ha, N.T.2
Cung, L.X.3
Thanh, T.K.4
Fujiki, K.5
Murakami, A.6
-
2
-
-
0344242012
-
Leu518Pro mutation of the β ig-h3 gene causes lattice corneal dystrophy type I
-
Endo S., Ha N. T., Fujiki K., Hotta Y., Nakayasu K., Hotta Y. et al. 1999 Leu518Pro mutation of the β ig-h3 gene causes lattice corneal dystrophy type I. Am. J. Ophthalmol. 128, 104-106.
-
(1999)
Am. J. Ophthalmol.
, vol.128
, pp. 104-106
-
-
Endo, S.1
Ha, N.T.2
Fujiki, K.3
Hotta, Y.4
Nakayasu, K.5
Hotta, Y.6
-
3
-
-
0032052195
-
Lattic corneal dystrophy type I in a Canadian kindred is associated with the Arg124→Cys mutation in the kerato-epithelin gene
-
Gupta S. K., Hodge W. G., Damji K. F., Guernsey D. L. and Neumann P. E. 1998 Lattic corneal dystrophy type I in a Canadian kindred is associated with the Arg124→Cys mutation in the kerato-epithelin gene. Am. J. Ophthalmol. 125, 547-549.
-
(1998)
Am. J. Ophthalmol.
, vol.125
, pp. 547-549
-
-
Gupta, S.K.1
Hodge, W.G.2
Damji, K.F.3
Guernsey, D.L.4
Neumann, P.E.5
-
4
-
-
0033833217
-
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: The P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy
-
Ha N. T., Fujiki K., Hotta Y., Nakayasu K. and Kanai A. 2002 Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: The P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am. J. Ophthalmol. 130, 119-120.
-
(2002)
Am. J. Ophthalmol.
, vol.130
, pp. 119-120
-
-
Ha, N.T.1
Fujiki, K.2
Hotta, Y.3
Nakayasu, K.4
Kanai, A.5
-
5
-
-
0033106510
-
Amyloid and Pro501Thr-mutated bigh3 gene product colocalize in lattice corneal dystrophy type IIIA
-
Kawasaki S., Nishida K., Quantock A. J., Dota A., Bennett K. and Kinoshita S. 1999 Amyloid and Pro501Thr-mutated bigh3 gene product colocalize in lattice corneal dystrophy type IIIA. Am. J. Ophthalmol. 127, 456-458.
-
(1999)
Am. J. Ophthalmol.
, vol.127
, pp. 456-458
-
-
Kawasaki, S.1
Nishida, K.2
Quantock, A.J.3
Dota, A.4
Bennett, K.5
Kinoshita, S.6
-
6
-
-
0034759216
-
BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy
-
Kim H. S., Yoon S. K., Cho B. J., Kim E. K. and Joo C. K. 2001 BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy. Cornea 20, 844-849.
-
(2001)
Cornea
, vol.20
, pp. 844-849
-
-
Kim, H.S.1
Yoon, S.K.2
Cho, B.J.3
Kim, E.K.4
Joo, C.K.5
-
7
-
-
17344365347
-
Mutation hot spots in 5q31-linked corneal dystrophies
-
Korvatska E., Munier F. L., Djemai A., Wang M. X., Fruech B., Chiou A. G.-Y. et al. 1998 Mutation hot spots in 5q31-linked corneal dystrophies. Am. J. Hum. Genet. 62, 320-324.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 320-324
-
-
Korvatska, E.1
Munier, F.L.2
Djemai, A.3
Wang, M.X.4
Fruech, B.5
Chiou, A.G.-Y.6
-
8
-
-
0033804222
-
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
-
Mashima Y., Yamamoto S., Inoue Y., Yamada M., Konishi M., Watanabe H. et al. 2000 Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am. J. Ophthalmol. 130, 516-517.
-
(2000)
Am. J. Ophthalmol.
, vol.130
, pp. 516-517
-
-
Mashima, Y.1
Yamamoto, S.2
Inoue, Y.3
Yamada, M.4
Konishi, M.5
Watanabe, H.6
-
9
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S. A., Dykes D. D. and Polesky H. F. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215.
-
(1988)
Nucl. Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
10
-
-
0037900705
-
Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3
-
Morand S., Buchillier V., Bonny C., Arsenijevic Y., Munier F. L. and Schorderet D. F. 2003 Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3. Invest. Ophthalmol. Vis. Sci. 44, 2973-2979.
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 2973-2979
-
-
Morand, S.1
Buchillier, V.2
Bonny, C.3
Arsenijevic, Y.4
Munier, F.L.5
Schorderet, D.F.6
-
11
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
Munier F. L., Korzatska E., Djemay A., Paslier D. L., Zografos L., Pescia G. et al. 1997 Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet. 15, 247-251.
-
(1997)
Nat. Genet.
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korzatska, E.2
Djemay, A.3
Paslier, D.L.4
Zografos, L.5
Pescia, G.6
-
12
-
-
0036207356
-
BIGH3 mutation spectrum in corneal dystrophies
-
Munier F. L., Frueh B. E., Othenin-Girard P., Uffer S., Cousin P., Wang M. X. et al. 2002 BIGH3 mutation spectrum in corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 43, 949-954.
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 949-954
-
-
Munier, F.L.1
Frueh, B.E.2
Othenin-Girard, P.3
Uffer, S.4
Cousin, P.5
Wang, M.X.6
-
13
-
-
0033498186
-
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy
-
Stewart H., Black G. C. M., Donnai D., Bonshek R. E., McCarthy J., Morgan S. et al. 1999 A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. Ophthalmology 106, 964-970.
-
(1999)
Ophthalmology
, vol.106
, pp. 964-970
-
-
Stewart, H.1
Black, G.C.M.2
Donnai, D.3
Bonshek, R.E.4
McCarthy, J.5
Morgan, S.6
-
14
-
-
0037111005
-
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
-
Tsujikawa K., Tsujikawa M., Yamamoto S., Fujikado T. and Tano Y. 2002 Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. Am. J. Med. Genet. 113, 20-22.
-
(2002)
Am. J. Med. Genet.
, vol.113
, pp. 20-22
-
-
Tsujikawa, K.1
Tsujikawa, M.2
Yamamoto, S.3
Fujikado, T.4
Tano, Y.5
-
15
-
-
17744411573
-
A keratoepithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA
-
Yamamoto S., Okada M., Tsujikawa M., Shimomura Y., Nishida K., Niour Y. et al. 1998 A keratoepithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Am. J. Hum. Genet. 62, 719-722.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 719-722
-
-
Yamamoto, S.1
Okada, M.2
Tsujikawa, M.3
Shimomura, Y.4
Nishida, K.5
Niour, Y.6
-
16
-
-
0036661487
-
An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan
-
Yoshida S., Kumano Y., Yoshida A., Hisatomi T., Matsui H., Nishida T. et al. 2002 An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan. Jpn. J. Ophthalmol. 46, 469-471.
-
(2002)
Jpn. J. Ophthalmol.
, vol.46
, pp. 469-471
-
-
Yoshida, S.1
Kumano, Y.2
Yoshida, A.3
Hisatomi, T.4
Matsui, H.5
Nishida, T.6
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