-
1
-
-
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;27:553-557.
-
(2006)
Hum Mutat
, vol.27
, pp. 553-557
-
-
Boutboul, S.1
Black, G.C.2
Moore, J.E.3
-
2
-
-
28044471222
-
Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy
-
Chen YT, Tseng SH, Chao SC. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005;24:928-932.
-
(2005)
Cornea
, vol.24
, pp. 928-932
-
-
Chen, Y.T.1
Tseng, S.H.2
Chao, S.C.3
-
3
-
-
0031003675
-
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy
-
Irvine AD, Corden LD, Swensson O, et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997;16:184-187.
-
(1997)
Nat Genet
, vol.16
, pp. 184-187
-
-
Irvine, A.D.1
Corden, L.D.2
Swensson, O.3
-
4
-
-
0033958844
-
Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
-
Corden LD, Swensson O, Swensson B, et al. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000;70:41-49.
-
(2000)
Exp Eye Res
, vol.70
, pp. 41-49
-
-
Corden, L.D.1
Swensson, O.2
Swensson, B.3
-
5
-
-
29044448890
-
Meesmann corneal dystrophy (MECD) : Report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
-
Nichini O, Manzi V, Munier FL, et al. Meesmann corneal dystrophy (MECD) : report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene. Ophthalmic Genet. 2005;26: 169-173.
-
(2005)
Ophthalmic Genet
, vol.26
, pp. 169-173
-
-
Nichini, O.1
Manzi, V.2
Munier, F.L.3
-
6
-
-
0034073435
-
A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy
-
Corden LD, Swensson O, Swensson B, et al. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000;84:527-530.
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 527-530
-
-
Corden, L.D.1
Swensson, O.2
Swensson, B.3
-
7
-
-
33846951099
-
The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders
-
Aldave AJ. The clinical utility of genetic analysis in the diagnosis and management of inherited corneal disorders. Contemp Ophthalmol. 2005;4:1-10.
-
(2005)
Contemp Ophthalmol
, vol.4
, pp. 1-10
-
-
Aldave, A.J.1
-
8
-
-
0036291857
-
A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy
-
Irvine AD, Coleman CM, Moore JE, et al. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Br J Ophthalmol. 2002;86:729-732.
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 729-732
-
-
Irvine, A.D.1
Coleman, C.M.2
Moore, J.E.3
-
9
-
-
17344362372
-
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
-
Nishida K, Honma Y, Dota A, et al. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet. 1997;61:1268-1275.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1268-1275
-
-
Nishida, K.1
Honma, Y.2
Dota, A.3
-
10
-
-
2642565303
-
A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy
-
Yoon MK, Warren JF, Holsclaw DS, et al. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004;88:752-756.
-
(2004)
Br J Ophthalmol
, vol.88
, pp. 752-756
-
-
Yoon, M.K.1
Warren, J.F.2
Holsclaw, D.S.3
-
11
-
-
0036875094
-
Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy
-
Takahashi K, Murakami A, Okisaka S, et al. Heterozygous Ala137Pro mutation in keratin 12 gene found in Japanese with Meesmann's corneal dystrophy. Jpn J Ophthalmol. 2002;46:673-674.
-
(2002)
Jpn J Ophthalmol
, vol.46
, pp. 673-674
-
-
Takahashi, K.1
Murakami, A.2
Okisaka, S.3
-
12
-
-
0033410222
-
A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy
-
Coleman CM, Hannush S, Covello SP, et al. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol. 1999;128:687-691.
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 687-691
-
-
Coleman, C.M.1
Hannush, S.2
Covello, S.P.3
-
13
-
-
0036626520
-
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy
-
Ren Z, Lin PY, Klintworth GK, et al. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. Hum Genet. 2002;110:568-577.
-
(2002)
Hum Genet
, vol.110
, pp. 568-577
-
-
Ren, Z.1
Lin, P.Y.2
Klintworth, G.K.3
-
14
-
-
34548122892
-
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients
-
Alavi A, Elahi E, Tehrani MH, et al. Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients. Invest Ophthalmol Vis Sci. 2007;48:4490-4497.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 4490-4497
-
-
Alavi, A.1
Elahi, E.2
Tehrani, M.H.3
-
15
-
-
3543033422
-
Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy
-
Murakami A, Kimura S, Fujiki K, et al. Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy. Jpn J Ophthalmol. 2004;48:317-320.
-
(2004)
Jpn J Ophthalmol
, vol.48
, pp. 317-320
-
-
Murakami, A.1
Kimura, S.2
Fujiki, K.3
-
16
-
-
1542297331
-
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy
-
Tian X, Fujiki K, Li Q, et al. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy. Am J Ophthalmol. 2004;137:567-569.
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 567-569
-
-
Tian, X.1
Fujiki, K.2
Li, Q.3
-
17
-
-
0036260568
-
Two brothers with gelatinous drop-like dystrophy at different stages of the disease: Role of mutational analysis
-
Yoshida S, Kumano Y, Yoshida A, et al. Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis. Am J Ophthalmol. 2002;133:830-832.
-
(2002)
Am J Ophthalmol
, vol.133
, pp. 830-832
-
-
Yoshida, S.1
Kumano, Y.2
Yoshida, A.3
-
18
-
-
0036580210
-
Gelatinous drop-like corneal dystrophy: Mutation analysis of membrane component, chromosome 1, surface marker 1]
-
Yajima T, Fujiki K, Murakami A, et al. [Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1]. Nippon Ganka Gakkai Zasshi. 2002;106:265-272.
-
(2002)
Nippon Ganka Gakkai Zasshi
, vol.106
, pp. 265-272
-
-
Yajima, T.1
Fujiki, K.2
Murakami, A.3
-
19
-
-
0033833217
-
Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: The P501Tof BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy
-
Ha NT, Fujiki K, Hotta Y, et al. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501Tof BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am J Ophthalmol. 2000;130:119-120.
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 119-120
-
-
Ha, N.T.1
Fujiki, K.2
Hotta, Y.3
-
21
-
-
0033859450
-
Rapid detection of M1S1 mutations by the protein truncation test
-
Tsujikawa M, Tsujikawa K, Maeda N, et al. Rapid detection of M1S1 mutations by the protein truncation test. Invest Ophthalmol Vis Sci. 2000;41:2466-2468.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 2466-2468
-
-
Tsujikawa, M.1
Tsujikawa, K.2
Maeda, N.3
-
22
-
-
0032900158
-
Identification of the gene responsible for gelatinous drop-like corneal dystrophy
-
Tsujikawa M, Kurahashi H, Tanaka T, et al. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat Genet. 1999;21:420-423.
-
(1999)
Nat Genet
, vol.21
, pp. 420-423
-
-
Tsujikawa, M.1
Kurahashi, H.2
Tanaka, T.3
-
23
-
-
0034765029
-
A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy
-
Tasa G, Kals J, Muru K, et al. A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy. Invest Ophthalmol Vis Sci. 2001;42:2762-2764.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 2762-2764
-
-
Tasa, G.1
Kals, J.2
Muru, K.3
-
24
-
-
11844280378
-
A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy
-
Taniguchi Y, Tsujikawa M, Hibino S, et al. A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy. Am J Ophthalmol. 2005;139:186-188.
-
(2005)
Am J Ophthalmol
, vol.139
, pp. 186-188
-
-
Taniguchi, Y.1
Tsujikawa, M.2
Hibino, S.3
-
25
-
-
33845738288
-
A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy
-
Markoff A, Bogdanova N, Uhlig CE, et al. A novel TACSTD2 gene mutation in a Turkish family with a gelatinous drop-like corneal dystrophy. Mol Vis. 2006;12:1473-1476.
-
(2006)
Mol Vis
, vol.12
, pp. 1473-1476
-
-
Markoff, A.1
Bogdanova, N.2
Uhlig, C.E.3
-
26
-
-
0037373685
-
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy
-
Ha NT, Chau HM, Cung le X, et al. A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy. Am J Ophthalmol. 2003;135:390-393.
-
(2003)
Am J Ophthalmol
, vol.135
, pp. 390-393
-
-
Ha, N.T.1
Chau, H.M.2
Cung le, X.3
-
27
-
-
0035139506
-
Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes
-
Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol. 2001;119:16-22.
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 16-22
-
-
Afshari, N.A.1
Mullally, J.E.2
Afshari, M.A.3
-
28
-
-
0022487183
-
Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actinbinding domain
-
Kwiatkowski DJ, Stossel TP, Orkin SH, et al. Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actinbinding domain. Nature. 1986;323:455-458.
-
(1986)
Nature
, vol.323
, pp. 455-458
-
-
Kwiatkowski, D.J.1
Stossel, T.P.2
Orkin, S.H.3
-
29
-
-
0025647488
-
Mutation in gelsolin gene in Finnish hereditary amyloidosis
-
Levy E, Haltia M, Fernandez-Madrid I, et al. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp M Ed. 1990;172:1865-1867.
-
(1990)
J Exp M Ed
, vol.172
, pp. 1865-1867
-
-
Levy, E.1
Haltia, M.2
Fernandez-Madrid, I.3
-
30
-
-
0025666454
-
Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene
-
Maury CP, Kere J, Tolvanen R, et al. Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett. 1990;276:75-77.
-
(1990)
FEBS Lett
, vol.276
, pp. 75-77
-
-
Maury, C.P.1
Kere, J.2
Tolvanen, R.3
-
31
-
-
0029063417
-
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan
-
Paunio T, Sunada Y, Kiuru S, et al. Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. Hum Mutat. 1995;6:60-65.
-
(1995)
Hum Mutat
, vol.6
, pp. 60-65
-
-
Paunio, T.1
Sunada, Y.2
Kiuru, S.3
-
32
-
-
0034057570
-
Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family
-
Stewart HS, Parveen R, Ridgway AE, et al. Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. Br J Ophthalmol. 2000;84:390-394.
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 390-394
-
-
Stewart, H.S.1
Parveen, R.2
Ridgway, A.E.3
-
33
-
-
0018663987
-
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy
-
Boysen G, Galassi G, Kamieniecka Z, et al. Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. J Neurol Neurosurg Psychiatry. 1979;42:1020-1030.
-
(1979)
J Neurol Neurosurg Psychiatry
, vol.42
, pp. 1020-1030
-
-
Boysen, G.1
Galassi, G.2
Kamieniecka, Z.3
-
34
-
-
30344467836
-
Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p. Asp187Tyr mutation in the GSN gene
-
Chastan N, Baert-Desurmont S, Saugier-Veber P, et al. Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p. Asp187Tyr mutation in the GSN gene. Muscle Nerve. 2006;33:113-119.
-
(2006)
Muscle Nerve
, vol.33
, pp. 113-119
-
-
Chastan, N.1
Baert-Desurmont, S.2
Saugier-Veber, P.3
-
35
-
-
0026936594
-
Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187
-
de la Chapelle A, Tolvanen R, Boysen G, et al. Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nat Genet. 1992;2:157-160.
-
(1992)
Nat Genet
, vol.2
, pp. 157-160
-
-
de la Chapelle, A.1
Tolvanen, R.2
Boysen, G.3
-
36
-
-
0033984723
-
Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type)
-
Maury CP, Liljestrom M, Boysen G, et al. Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). J Clin Pathol. 2000;53:95-99.
-
(2000)
J Clin Pathol
, vol.53
, pp. 95-99
-
-
Maury, C.P.1
Liljestrom, M.2
Boysen, G.3
-
37
-
-
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
-
38
-
-
0033775468
-
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?
-
Ridgway AE, Akhtar S, Munier FL, et al. Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin? Invest Ophthalmol Vis Sci. 2000;41:3286-3292.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 3286-3292
-
-
Ridgway, A.E.1
Akhtar, S.2
Munier, F.L.3
-
39
-
-
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;117:90-93.
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 90-93
-
-
Mashima, Y.1
Nakamura, Y.2
Noda, K.3
-
40
-
-
0034464530
-
Immunohistology of keratoepithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene
-
Konishi M, Yamada M, Nakamura Y, et al. Immunohistology of keratoepithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene. Curr Eye Res. 2000;21:891-896.
-
(2000)
Curr Eye Res
, vol.21
, pp. 891-896
-
-
Konishi, M.1
Yamada, M.2
Nakamura, Y.3
-
41
-
-
0032198676
-
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I
-
Hotta Y, Fujiki K, Ono K, et al. Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol. 1998;42:450-455.
-
(1998)
Jpn J Ophthalmol
, vol.42
, pp. 450-455
-
-
Hotta, Y.1
Fujiki, K.2
Ono, K.3
-
42
-
-
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;12:331-335.
-
(2006)
Mol Vis
, vol.12
, pp. 331-335
-
-
Zenteno, J.C.1
Ramirez-Miranda, A.2
Santacruz-Valdes, C.3
-
43
-
-
0038777119
-
A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy
-
Ha NT, Cung le X, Chau HM, et al. A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy. Jpn J Ophthalmol. 2003;47:246-248.
-
(2003)
Jpn J Ophthalmol
, vol.47
, pp. 246-248
-
-
Ha, N.T.1
Cung le, X.2
Chau, H.M.3
-
44
-
-
0842321896
-
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy
-
Cung le X, Ha NT, Chau HM, et al. Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy. Jpn J Ophthalmol. 2004;48:12-16.
-
(2004)
Jpn J Ophthalmol
, vol.48
, pp. 12-16
-
-
Cung le, X.1
Ha, N.T.2
Chau, H.M.3
-
46
-
-
0032799821
-
Heterogeneity in granular corneal dystrophy: Identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis
-
Stewart HS, Ridgway AE, Dixon MJ, et al. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Hum Mutat. 1999;14:126-132.
-
(1999)
Hum Mutat
, vol.14
, pp. 126-132
-
-
Stewart, H.S.1
Ridgway, A.E.2
Dixon, M.J.3
-
47
-
-
0035084939
-
Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
-
Dighiero P, Niel F, Ellies P, et al. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Ophthalmology. 2001;108:818-823.
-
(2001)
Ophthalmology
, vol.108
, pp. 818-823
-
-
Dighiero, P.1
Niel, F.2
Ellies, P.3
-
48
-
-
0034048172
-
A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126
-
Dighiero P, Drunat S, D'Hermies F, et al. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126. Arch Ophthalmol. 2000;118: 814-818.
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 814-818
-
-
Dighiero, P.1
Drunat, S.2
D'Hermies, F.3
-
49
-
-
0033804222
-
Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan
-
Mashima Y, Yamamoto S, Inoue Y, et al. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am J Ophthalmol. 2000;130:516-517.
-
(2000)
Am J Ophthalmol
, vol.130
, pp. 516-517
-
-
Mashima, Y.1
Yamamoto, S.2
Inoue, Y.3
-
50
-
-
0033106510
-
Amyloid and Pro501 Thrmutated (beta) ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA
-
Kawasaki S, Nishida K, Quantock AJ, et al. Amyloid and Pro501 Thrmutated (beta) ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA. Am J Ophthalmol. 1999;127:456-458.
-
(1999)
Am J Ophthalmol
, vol.127
, pp. 456-458
-
-
Kawasaki, S.1
Nishida, K.2
Quantock, A.J.3
-
51
-
-
0037111005
-
Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA
-
Tsujikawa K, Tsujikawa M, Yamamoto S, et al. Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA. Am J Med Genet. 2002;113:20-22.
-
(2002)
Am J Med Genet
, vol.113
, pp. 20-22
-
-
Tsujikawa, K.1
Tsujikawa, M.2
Yamamoto, S.3
-
52
-
-
17744411573
-
A kerato-epithelin (betaigh3) mutation in lattice corneal dystrophy type IIIA
-
Yamamoto S, Okada M, Tsujikawa M, et al. A kerato-epithelin (betaigh3) 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
-
53
-
-
18744405075
-
Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I
-
Tian X, Fujiki K, Wang W, et al. Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol. 2005;49:84-88.
-
(2005)
Jpn J Ophthalmol
, vol.49
, pp. 84-88
-
-
Tian, X.1
Fujiki, K.2
Wang, W.3
-
54
-
-
0033768208
-
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies
-
Fujiki K, Hotta Y, Nakayasu K, et al. Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. Cornea. 2000;19:842-845.
-
(2000)
Cornea
, vol.19
, pp. 842-845
-
-
Fujiki, K.1
Hotta, Y.2
Nakayasu, K.3
-
55
-
-
0036595666
-
Geographical feature of lattice corneal dystrophy patients in Aichi Prefecture: An analysis of the TGFBI gene]
-
Hirano K, Nakamura M, Yamamoto N, et al. [Geographical feature of lattice corneal dystrophy patients in Aichi Prefecture: an analysis of the TGFBI gene]. Nippon Ganka Gakkai Zasshi. 2002;106:352-359.
-
(2002)
Nippon Ganka Gakkai Zasshi
, vol.106
, pp. 352-359
-
-
Hirano, K.1
Nakamura, M.2
Yamamoto, N.3
-
56
-
-
0344242012
-
Leu518Pro mutation of the beta igh3 gene causes lattice corneal dystrophy type I
-
Endo S, Nguyen TH, Fujiki K, et al. Leu518Pro mutation of the beta igh3 gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 1999;128:104-106.
-
(1999)
Am J Ophthalmol
, vol.128
, pp. 104-106
-
-
Endo, S.1
Nguyen, T.H.2
Fujiki, K.3
-
57
-
-
0034118666
-
Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene
-
Hirano K, Hotta Y, Fujiki K, et al. Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. Br J Ophthalmol. 2000;84: 583-585.
-
(2000)
Br J Ophthalmol
, vol.84
, pp. 583-585
-
-
Hirano, K.1
Hotta, Y.2
Fujiki, K.3
-
58
-
-
0034972072
-
Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene
-
Hirano K, Hotta Y, Nakamura M, et al. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea. 2001;20:525-529.
-
(2001)
Cornea
, vol.20
, pp. 525-529
-
-
Hirano, K.1
Hotta, Y.2
Nakamura, M.3
-
59
-
-
0031682083
-
A new L527R mutation of the betaIGH3 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 betaIGH3 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
-
60
-
-
32044467120
-
Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene
-
Funayama T, Mashima Y, Kawashima M, et al. Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene. Jpn J Ophthalmol. 2006;50:62-64.
-
(2006)
Jpn J Ophthalmol
, vol.50
, pp. 62-64
-
-
Funayama, T.1
Mashima, Y.2
Kawashima, M.3
-
61
-
-
17244380701
-
Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta]
-
Kawashima M, Yamada M, Funayama T, et al. [Six cases of late-onset lattice corneal dystrophy associated with gene mutations induced by the transforming growth factor-beta]. Nippon Ganka Gakkai Zasshi. 2005;109:93-100.
-
(2005)
Nippon Ganka Gakkai Zasshi
, vol.109
, pp. 93-100
-
-
Kawashima, M.1
Yamada, M.2
Funayama, T.3
-
62
-
-
1542610057
-
Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene]
-
Nakagawa E, Sakimoto T, Inada N, et al. [Histopathological study of lattice corneal dystrophy with L 527 R mutation of transforming growth factor-beta induced gene]. Nippon Ganka Gakkai Zasshi. 2004;108: 118-123.
-
(2004)
Nippon Ganka Gakkai Zasshi
, vol.108
, pp. 118-123
-
-
Nakagawa, E.1
Sakimoto, T.2
Inada, N.3
-
63
-
-
20344396376
-
Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy
-
Yamada N, Chikama TI, Morishige N, et al. Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy. Br J Ophthalmol. 2005;89:771-773.
-
(2005)
Br J Ophthalmol
, vol.89
, pp. 771-773
-
-
Yamada, N.1
Chikama, T.I.2
Morishige, N.3
-
64
-
-
33745222089
-
A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene
-
Yu P, Gu Y, Yang Y, et al. A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. J Genet. 2006;85:73-76.
-
(2006)
J Genet
, vol.85
, pp. 73-76
-
-
Yu, P.1
Gu, Y.2
Yang, Y.3
-
65
-
-
11144289980
-
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients
-
Chakravarthi SV, Kannabiran C, Sridhar MS, et al. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci. 2005;46:121-125.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 121-125
-
-
Chakravarthi, S.V.1
Kannabiran, C.2
Sridhar, M.S.3
-
66
-
-
0032222723
-
A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients. Mutations in brief no. 180 [Online]
-
Rozzo C, Fossarello M, Galleri G, et al. A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients. Mutations in brief no. 180 [Online]. Hum Mutat. 1998;12:215-216.
-
(1998)
Hum Mutat
, vol.12
, pp. 215-216
-
-
Rozzo, C.1
Fossarello, M.2
Galleri, G.3
-
67
-
-
18244404603
-
Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin
-
Stix B, Leber M, Bingemer P, et al. 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
-
-
Stix, B.1
Leber, M.2
Bingemer, P.3
-
68
-
-
16644390511
-
Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]
-
Nakagawa Asahina S, Fujiki K, Enomoto Y, et al. [Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. Nippon Ganka Gakkai Zasshi. 2004;108:618-620.
-
(2004)
Nippon Ganka Gakkai Zasshi
, vol.108
, pp. 618-620
-
-
Nakagawa Asahina, S.1
Fujiki, K.2
Enomoto, Y.3
-
69
-
-
34248383632
-
TGFBI gene mutations in Brazilian patients with corneal dystrophy
-
Solari HP, Ventura MP, Perez AB, et al. TGFBI gene mutations in Brazilian patients with corneal dystrophy. Eye. 2007;21:587-590.
-
(2007)
Eye
, vol.21
, pp. 587-590
-
-
Solari, H.P.1
Ventura, M.P.2
Perez, A.B.3
-
70
-
-
0033983763
-
A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA
-
Dighiero P, Drunat S, Ellies P, et al. A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA. Am J Ophthalmol. 2000;129:248-251.
-
(2000)
Am J Ophthalmol
, vol.129
, pp. 248-251
-
-
Dighiero, P.1
Drunat, S.2
Ellies, P.3
-
71
-
-
2442650583
-
Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family
-
Klintworth GK, Bao W, Afshari NA. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Invest Ophthalmol Vis Sci. 2004;45:1382-1388.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 1382-1388
-
-
Klintworth, G.K.1
Bao, W.2
Afshari, N.A.3
-
72
-
-
7544248550
-
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
-
Aldave AJ, Gutmark JG, Yellore VS, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004;138:772-781.
-
(2004)
Am J Ophthalmol
, vol.138
, pp. 772-781
-
-
Aldave, A.J.1
Gutmark, J.G.2
Yellore, V.S.3
-
73
-
-
3042662014
-
The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies
-
Aldave AJ, Yellore VS, Self CA, et al. The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. Ophthalmology. 2004;111:1407-1409.
-
(2004)
Ophthalmology
, vol.111
, pp. 1407-1409
-
-
Aldave, A.J.1
Yellore, V.S.2
Self, C.A.3
-
74
-
-
2942577626
-
Polymorphic corneal amyloidosis: A disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene
-
Eifrig DE Jr, Afshari NA, Buchanan HW 4th, et al. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. Ophthalmology. 2004;111: 1108-1114.
-
(2004)
Ophthalmology
, vol.111
, pp. 1108-1114
-
-
Eifrig Jr, D.E.1
Afshari, N.A.2
Buchanan 4th, H.W.3
-
75
-
-
34748864182
-
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy
-
Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC. The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. Mol Vis. 2007;13:1695-1700.
-
(2007)
Mol Vis
, vol.13
, pp. 1695-1700
-
-
Correa-Gomez, V.1
Villalvazo-Cordero, L.2
Zenteno, J.C.3
-
76
-
-
35548981695
-
TGFBI (BIGH3) gene mutations in Hungary-report of the novel F547S mutation associated with polymorphic corneal amyloidosis
-
Takacs L, Losonczy G, Matesz K, et al. TGFBI (BIGH3) gene mutations in Hungary-report of the novel F547S mutation associated with polymorphic corneal amyloidosis. Mol Vis. 2007;13:1976-1983.
-
(2007)
Mol Vis
, vol.13
, pp. 1976-1983
-
-
Takacs, L.1
Losonczy, G.2
Matesz, K.3
-
77
-
-
0142226907
-
A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
-
Warren JF, Abbott RL, Yoon MK, et al. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 2003;136:872-878.
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 872-878
-
-
Warren, J.F.1
Abbott, R.L.2
Yoon, M.K.3
-
78
-
-
33644552779
-
Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene
-
Aldave AJ, Rayner SA, Kim BT, et al. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis. 2006;12:142-146.
-
(2006)
Mol Vis
, vol.12
, pp. 142-146
-
-
Aldave, A.J.1
Rayner, S.A.2
Kim, B.T.3
-
79
-
-
33749341780
-
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I
-
Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, et al. A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. Jpn J Ophthalmol. 2006;50:403-408.
-
(2006)
Jpn J Ophthalmol
, vol.50
, pp. 403-408
-
-
Atchaneeyasakul, L.O.1
Appukuttan, B.2
Pingsuthiwong, S.3
-
80
-
-
40849119761
-
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene
-
In press
-
Aldave AJ, Yellore VS, Sonmez B, et al. A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene. Arch Ophthalmol. In press.
-
Arch Ophthalmol
-
-
Aldave, A.J.1
Yellore, V.S.2
Sonmez, B.3
-
81
-
-
0033498186
-
A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, lateonset form of lattice corneal dystrophy
-
Stewart H, Black GC, Donnai D, et al. A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, lateonset form of lattice corneal dystrophy. Ophthalmology. 1999;106: 964-970.
-
(1999)
Ophthalmology
, vol.106
, pp. 964-970
-
-
Stewart, H.1
Black, G.C.2
Donnai, D.3
-
82
-
-
20144385538
-
A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene
-
Aldave AJ, Rayner SA, King JA, et al. A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene. Ophthalmology. 2005;112:1017-1022.
-
(2005)
Ophthalmology
, vol.112
, pp. 1017-1022
-
-
Aldave, A.J.1
Rayner, S.A.2
King, J.A.3
-
83
-
-
34548285301
-
A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene
-
Tian X, Fujiki K, Zhang Y, et al. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. Am J Ophthalmol. 2007;144:473-475.
-
(2007)
Am J Ophthalmol
, vol.144
, pp. 473-475
-
-
Tian, X.1
Fujiki, K.2
Zhang, Y.3
-
84
-
-
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;87:686-689.
-
(2003)
Br J Ophthalmol
, vol.87
, pp. 686-689
-
-
Chau, H.M.1
Ha, N.T.2
Cung, L.X.3
-
85
-
-
0034016051
-
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies
-
Schmitt-Bernard CF, Guittard C, Arnaud B, et al. BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. Invest Ophthalmol Vis Sci. 2000;41:1302-1308.
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 1302-1308
-
-
Schmitt-Bernard, C.F.1
Guittard, C.2
Arnaud, B.3
-
86
-
-
67651246094
-
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
-
Liskova P, Veraitch B, Jirsova K, et al. Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation. Br J Ophthalmol. 2007.
-
(2007)
Br J Ophthalmol
-
-
Liskova, P.1
Veraitch, B.2
Jirsova, K.3
-
87
-
-
27544437197
-
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
-
Sultana A, Sridhar MS, Klintworth GK, et al. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet. 2005;68:454-460.
-
(2005)
Clin Genet
, vol.68
, pp. 454-460
-
-
Sultana, A.1
Sridhar, M.S.2
Klintworth, G.K.3
-
88
-
-
0242695789
-
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India
-
Warren JF, Aldave AJ, Srinivasan M, et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003;121:1608-1612.
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 1608-1612
-
-
Warren, J.F.1
Aldave, A.J.2
Srinivasan, M.3
-
89
-
-
0346039114
-
Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India
-
Sultana A, Sridhar MS, Jagannathan A, et al. Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis. 2003;9:730-734.
-
(2003)
Mol Vis
, vol.9
, pp. 730-734
-
-
Sultana, A.1
Sridhar, M.S.2
Jagannathan, A.3
-
90
-
-
33749430273
-
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland
-
Liu NP, Smith CF, Bowling BL, et al. Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Mol Vis. 2006;12:1148-1152.
-
(2006)
Mol Vis
, vol.12
, pp. 1148-1152
-
-
Liu, N.P.1
Smith, C.F.2
Bowling, B.L.3
-
91
-
-
0038238258
-
Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy
-
Niel F, Ellies P, Dighiero P, et al. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003;44:2949-2953.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 2949-2953
-
-
Niel, F.1
Ellies, P.2
Dighiero, P.3
-
92
-
-
33644855187
-
CHST6 mutations in North American subjects with macular corneal dystrophy: A comprehensive molecular genetic review
-
Klintworth GK, Smith CF, Bowling BL. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Mol Vis. 2006;12:159-176.
-
(2006)
Mol Vis
, vol.12
, pp. 159-176
-
-
Klintworth, G.K.1
Smith, C.F.2
Bowling, B.L.3
-
93
-
-
0036156860
-
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy
-
El-Ashry MF, Abd El-Aziz MM, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2002;43:377-382.
-
(2002)
Invest Ophthalmol Vis Sci
, vol.43
, pp. 377-382
-
-
El-Ashry, M.F.1
Abd El-Aziz, M.M.2
Wilkins, S.3
-
94
-
-
0033781982
-
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene
-
Akama TO, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet. 2000;26:237-241.
-
(2000)
Nat Genet
, vol.26
, pp. 237-241
-
-
Akama, T.O.1
Nishida, K.2
Nakayama, J.3
-
95
-
-
12144286495
-
Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy
-
Aldave AJ, Yellore VS, Thonar EJ, et al. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004;137:465-473.
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 465-473
-
-
Aldave, A.J.1
Yellore, V.S.2
Thonar, E.J.3
-
96
-
-
0042343892
-
Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy
-
Ha NT, Chau HM, Cung le X, et al. Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Invest Ophthalmol Vis Sci. 2003;44:3310-3316.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 3310-3316
-
-
Ha, N.T.1
Chau, H.M.2
Cung le, X.3
-
97
-
-
33750094117
-
Corneal macular dystrophy: Clinical, histopathologic and ultrastructural features]
-
Gulias-Canizo R, Castaneda-Diez R, Gomez-Leal A, et al. [Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]. Arch Soc Esp Oftalmol. 2006;81:315-320.
-
(2006)
Arch Soc Esp Oftalmol
, vol.81
, pp. 315-320
-
-
Gulias-Canizo, R.1
Castaneda-Diez, R.2
Gomez-Leal, A.3
-
98
-
-
0042344730
-
Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations
-
Ha NT, Chau HM, Cung le X, et al. Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. Cornea. 2003;22:508-511.
-
(2003)
Cornea
, vol.22
, pp. 508-511
-
-
Ha, N.T.1
Chau, H.M.2
Cung le, X.3
-
99
-
-
19944428274
-
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy
-
El-Ashry MF, Abd El-Aziz MM, Shalaby O, et al. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol. 2005;139:192-193.
-
(2005)
Am J Ophthalmol
, vol.139
, pp. 192-193
-
-
El-Ashry, M.F.1
Abd El-Aziz, M.M.2
Shalaby, O.3
-
100
-
-
20444450103
-
Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship
-
Liu NP, Bao W, Smith CF, et al. Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. Am J Ophthalmol. 2005;139:1118-1120.
-
(2005)
Am J Ophthalmol
, vol.139
, pp. 1118-1120
-
-
Liu, N.P.1
Bao, W.2
Smith, C.F.3
-
101
-
-
34848867805
-
An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation
-
Yellore VS, Sonmez B, Chen MC, et al. An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutation. Ophthalmic Genet. 2007;28:169-174.
-
(2007)
Ophthalmic Genet
, vol.28
, pp. 169-174
-
-
Yellore, V.S.1
Sonmez, B.2
Chen, M.C.3
-
102
-
-
0041342129
-
Mutations in the CHST6 gene in patients with macular corneal dystrophy: Immunohistochemical evidence of heterogeneity
-
Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci. 2003;44:3272-3277.
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 3272-3277
-
-
Iida-Hasegawa, N.1
Furuhata, A.2
Hayatsu, H.3
-
103
-
-
1242341218
-
Novel mutations in the CHST6 gene causing macular corneal dystrophy
-
Abbruzzese C, Kuhn U, Molina F, et al. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet. 2004;65:120-125.
-
(2004)
Clin Genet
, vol.65
, pp. 120-125
-
-
Abbruzzese, C.1
Kuhn, U.2
Molina, F.3
-
104
-
-
34848877291
-
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy
-
Orr A, Dube MP, Marcadier J, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS ONE. 2007;2:e685.
-
(2007)
PLoS ONE
, vol.2
-
-
Orr, A.1
Dube, M.P.2
Marcadier, J.3
-
105
-
-
38449112757
-
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy
-
Weiss JS, Kruth HS, Kuivaniemi H, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:5007-5012.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 5007-5012
-
-
Weiss, J.S.1
Kruth, H.S.2
Kuivaniemi, H.3
-
106
-
-
34848859527
-
Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy
-
Yellore VS, Khan MA, Bourla N, et al. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007;13: 1777-1782.
-
(2007)
Mol Vis
, vol.13
, pp. 1777-1782
-
-
Yellore, V.S.1
Khan, M.A.2
Bourla, N.3
-
107
-
-
38949212779
-
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
-
Weiss JW, Kruth HS, Kuivaniemi H, et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet. 2008;146:271-283.
-
(2008)
Am J Med Genet
, vol.146
, pp. 271-283
-
-
Weiss, J.W.1
Kruth, H.S.2
Kuivaniemi, H.3
-
108
-
-
33748850603
-
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy
-
Rodahl E, Van Ginderdeuren R, Knappskog PM, et al. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. Am J Ophthalmol. 2006;142:520-521.
-
(2006)
Am J Ophthalmol
, vol.142
, pp. 520-521
-
-
Rodahl, E.1
Van Ginderdeuren, R.2
Knappskog, P.M.3
-
109
-
-
13944271839
-
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene
-
Bredrup C, Knappskog PM, Majewski J, et al. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. 2005;46:420-426.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 420-426
-
-
Bredrup, C.1
Knappskog, P.M.2
Majewski, J.3
-
110
-
-
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
-
111
-
-
22144445323
-
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy
-
Gottsch JD, Sundin OH, Liu SH, et al. Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy. Invest Ophthalmol Vis Sci. 2005;46:1934-1939.
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 1934-1939
-
-
Gottsch, J.D.1
Sundin, O.H.2
Liu, S.H.3
-
112
-
-
0035504694
-
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
-
Biswas S, Munier FL, Yardley J, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10:2415-2423.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2415-2423
-
-
Biswas, S.1
Munier, F.L.2
Yardley, J.3
-
113
-
-
35848932106
-
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
-
Aldave AJ, Yellore VS, Yu F, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007;143:2549-2556.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2549-2556
-
-
Aldave, A.J.1
Yellore, V.S.2
Yu, F.3
-
114
-
-
34249748851
-
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy
-
Liskova P, Tuft SJ, Gwilliam R, et al. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat. 2007;28:638.
-
(2007)
Hum Mutat
, vol.28
, pp. 638
-
-
Liskova, P.1
Tuft, S.J.2
Gwilliam, R.3
-
115
-
-
27244444742
-
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells
-
Krafchak CM, Pawar H, Moroi SE, et al. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005;77:694-708.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 694-708
-
-
Krafchak, C.M.1
Pawar, H.2
Moroi, S.E.3
-
116
-
-
34547425743
-
Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy
-
Sultana A, Garg P, Ramamurthy B, et al. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007;13:1327-1332.
-
(2007)
Mol Vis
, vol.13
, pp. 1327-1332
-
-
Sultana, A.1
Garg, P.2
Ramamurthy, B.3
-
117
-
-
33846310951
-
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11
-
Jiao X, Sultana A, Garg P, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007;44:64-68.
-
(2007)
J Med Genet
, vol.44
, pp. 64-68
-
-
Jiao, X.1
Sultana, A.2
Garg, P.3
-
118
-
-
33745544253
-
Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)
-
Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38: 755-757.
-
(2006)
Nat Genet
, vol.38
, pp. 755-757
-
-
Vithana, E.N.1
Morgan, P.2
Sundaresan, P.3
-
119
-
-
34248332574
-
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
-
Desir J, Moya G, Reish O, et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007;44:322-326.
-
(2007)
J Med Genet
, vol.44
, pp. 322-326
-
-
Desir, J.1
Moya, G.2
Reish, O.3
-
120
-
-
34547699124
-
Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11
-
Aldave AJ, Yellore VS, Bourla N, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007;26:896-900.
-
(2007)
Cornea
, vol.26
, pp. 896-900
-
-
Aldave, A.J.1
Yellore, V.S.2
Bourla, N.3
-
121
-
-
33846286488
-
Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: Two novel mutations in SLC4A11
-
Kumar A, Bhattacharjee S, Prakash DR, et al. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. Mol Vis. 2007;13: 39-46.
-
(2007)
Mol Vis
, vol.13
, pp. 39-46
-
-
Kumar, A.1
Bhattacharjee, S.2
Prakash, D.R.3
|