-
1
-
-
0010254176
-
Knötchenförmige Hornhauttrübungen (Noduli corneae)
-
Groenouw A. Knötchenförmige Hornhauttrübungen (Noduli corneae). Archiv Augenheilkd. 21:1890;281-289.
-
(1890)
Archiv Augenheilkd
, vol.21
, pp. 281-289
-
-
Groenouw, A.1
-
3
-
-
0010281830
-
Knötchenförmige Hornhauttrübungen, vererbt durch drei Generationen
-
Groenouw A. Knötchenförmige Hornhauttrübungen, vererbt durch drei Generationen. Klin Monatsbl Augenheilkd. 58:1917;411-420.
-
(1917)
Klin Monatsbl Augenheilkd
, vol.58
, pp. 411-420
-
-
Groenouw, A.1
-
4
-
-
84990538359
-
Knötchenförmige Hornhauttrübungen vererbt durch vier Generationen
-
Groenouw A. Knötchenförmige Hornhauttrübungen vererbt durch vier Generationen. Klin Monatsbl Augenheilkd. 90:1933;577-580.
-
(1933)
Klin Monatsbl Augenheilkd
, vol.90
, pp. 577-580
-
-
Groenouw, A.1
-
5
-
-
0242510198
-
Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea
-
Jones S.T., Zimmerman L.E. Histopathologic differentiation of granular, macular and lattice dystrophies of the cornea. Am J Ophthalmol. 51:1961;394-410.
-
(1961)
Am J Ophthalmol
, vol.51
, pp. 394-410
-
-
Jones, S.T.1
Zimmerman, L.E.2
-
6
-
-
0014836997
-
Granular dystrophy of the cornea: Characteristic electron microscopic lesion
-
Akiya S., Brown S.I. Granular dystrophy of the cornea characteristic electron microscopic lesion . Arch Ophthalmol. 84:1970;179-192.
-
(1970)
Arch Ophthalmol
, vol.84
, pp. 179-192
-
-
Akiya, S.1
Brown, S.I.2
-
7
-
-
0028332311
-
Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q
-
Eiberg H., Mφller H.U., Berendt I., Mohr J. Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. Eur J Hum Genet. 2:1994;132-138.
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 132-138
-
-
Eiberg, H.1
Moller, H.U.2
Berendt, I.3
Mohr, J.4
-
8
-
-
0023933280
-
Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits: A study of three families
-
Folberg R., Alfonso E., Croxatto J.O., et al. Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits a study of three families . Ophthalmology. 95:1988;46-51.
-
(1988)
Ophthalmology
, vol.95
, pp. 46-51
-
-
Folberg, R.1
Alfonso, E.2
Croxatto, J.O.3
-
9
-
-
0000987231
-
Ueber eine weitere familiäre Hornhautdystrophie (Reis)
-
Bücklers M. Ueber eine weitere familiäre Hornhautdystrophie (Reis). Klin Monatsbl Augenheilkd. 114:1949;386-397.
-
(1949)
Klin Monatsbl Augenheilkd
, vol.114
, pp. 386-397
-
-
Bücklers, M.1
-
10
-
-
0028223723
-
Three autosomal dominant corneal dystrophies map to chromosome 5q
-
Stone E.M., Mathers W.D., Rosenwasser G.O.D., et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 6:1994;47-51.
-
(1994)
Nat Genet
, vol.6
, pp. 47-51
-
-
Stone, E.M.1
Mathers, W.D.2
Rosenwasser, G.O.D.3
-
11
-
-
0029664790
-
Mapping of Reis-Bücklers corneal dystrophy to chromosome 5q
-
Small K.W., Mullen L., Barletta J., et al. Mapping of Reis-Bücklers corneal dystrophy to chromosome 5q. Am J Ophthalmol. 121:1996;384-390.
-
(1996)
Am J Ophthalmol
, vol.121
, pp. 384-390
-
-
Small, K.W.1
Mullen, L.2
Barletta, J.3
-
12
-
-
0029819807
-
Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX
-
Korvatska E., Munier F.L., Zografos L., et al. Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX. Eur J Hum Genet. 4:1996;214-218.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 214-218
-
-
Korvatska, E.1
Munier, F.L.2
Zografos, L.3
-
13
-
-
0031020733
-
Kerato-epithelin mutations in four 5q31-linked corneal dystrophies
-
Munier F.L., Korvatska E., Djema A., et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 15:1997;247-251.
-
(1997)
Nat Genet
, vol.15
, pp. 247-251
-
-
Munier, F.L.1
Korvatska, E.2
Djema, A.3
-
14
-
-
0026783009
-
CDNA cloning and sequence analysis of βig-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 βig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β DNA Cell Biol. 11:1992;511-522.
-
(1992)
DNA Cell Biol
, vol.11
, pp. 511-522
-
-
Skonier, J.1
Neubauer, M.2
Madisen, L.3
-
15
-
-
0028168425
-
βig-h3: A transforming growth factor-β-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice
-
Skonier J., Bennett K., Rothwell V., et al. βig-h3 a transforming growth factor-β-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice . DNA Cell Biol. 13:1994;571-584.
-
(1994)
DNA Cell Biol
, vol.13
, pp. 571-584
-
-
Skonier, J.1
Bennett, K.2
Rothwell, V.3
-
16
-
-
0028145930
-
CDNA from human ocular ciliary epithelium homologous to βig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium
-
Escribano J., Hernando N., Ghosh S., Crabb J., Coca-Prados M. cDNA from human ocular ciliary epithelium homologous to βig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol. 160:1994;511-521.
-
(1994)
J Cell Physiol
, vol.160
, pp. 511-521
-
-
Escribano, J.1
Hernando, N.2
Ghosh, S.3
Crabb, J.4
Coca-Prados, M.5
-
17
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:1989;2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
18
-
-
0003154471
-
The thalassemias
-
G. Stamatoyannopoulos, A.W. Nienhuis, P.W. Majerus, & H. Varmus. Philadelphia: Saunders
-
Weatherall D.J. The thalassemias. Stamatoyannopoulos G., Nienhuis A.W., Majerus P.W., Varmus H. The molecular basis of blood diseases. 1994;157-205 Saunders, Philadelphia.
-
(1994)
The Molecular Basis of Blood Diseases
, pp. 157-205
-
-
Weatherall, D.J.1
-
19
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs H.H., Brown M.S., Goldstein J.L. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1:1992;445-466.
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
20
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 66:1991;219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
-
21
-
-
0027964261
-
Mutations in the transmembrane domain of FGGR3 cause the most common genetic form dwarfism, achondroplasia
-
Shiang R., Thompson L.M., Zhu Y.Z., et al. Mutations in the transmembrane domain of FGGR3 cause the most common genetic form dwarfism, achondroplasia. Cell. 78:1994;335-342.
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
-
22
-
-
0026503781
-
Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences
-
Holmgren G., Bergstrom S., Drugge U., et al. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet. 41:1992;39-41.
-
(1992)
Clin Genet
, vol.41
, pp. 39-41
-
-
Holmgren, G.1
Bergstrom, S.2
Drugge, U.3
-
23
-
-
0023115076
-
Homozygotes for Huntington's disease
-
Wexler N.S., Young A.B., Tanzi R.E., et al. Homozygotes for Huntington's disease. Nature. 326:1987;194-197.
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
Young, A.B.2
Tanzi, R.E.3
-
24
-
-
0027491108
-
Homozygotes for the autosomal dominant neoplasia syndrome (MEN1)
-
Brandi M.L., Weber G., Svensson A., et al. Homozygotes for the autosomal dominant neoplasia syndrome (MEN1). Am J Hum Genet. 53:1993;1167-1172.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1167-1172
-
-
Brandi, M.L.1
Weber, G.2
Svensson, A.3
-
25
-
-
0028953431
-
Epidermolysis bullosa simplex: A keratin 5 mutation is a fully dominant allele in epidermal cytoskelton function
-
Stephens K., Zlotogorski A., Smith L., et al. Epidermolysis bullosa simplex a keratin 5 mutation is a fully dominant allele in epidermal cytoskelton function . Am J Hum Genet. 56:1995;577-585.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 577-585
-
-
Stephens, K.1
Zlotogorski, A.2
Smith, L.3
-
26
-
-
0021078589
-
Dominance and homozygosity in man
-
Pauli R.M. Dominance and homozygosity in man. Am J Med Genet. 16:1983;455-458.
-
(1983)
Am J Med Genet
, vol.16
, pp. 455-458
-
-
Pauli, R.M.1
-
27
-
-
0024292597
-
Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila
-
Zinn K., McAllister L., Goodman C.S. Sequence analysis and neuronal expression of fasciclin I in grasshopper and Drosophila. Cell. 53:1988;577-587.
-
(1988)
Cell
, vol.53
, pp. 577-587
-
-
Zinn, K.1
McAllister, L.2
Goodman, C.S.3
-
28
-
-
0027185670
-
Osteoblast-specific factor 2: Cloning of a putative bone adhesion protein with homology with the insect protein fasciclin I
-
Takeshita S., Kikuno R., Tezuka K., Amann E. Osteoblast-specific factor 2 cloning of a putative bone adhesion protein with homology with the insect protein fasciclin I . Biochem J. 294:1993;271-278.
-
(1993)
Biochem J
, vol.294
, pp. 271-278
-
-
Takeshita, S.1
Kikuno, R.2
Tezuka, K.3
Amann, E.4
-
29
-
-
0028142083
-
Immunohistochemical localization of transforming growth factor-β1, -β2, and -β3 latency-associated peptide in human cornea
-
Nishida K., Kinoshita S., Yokoi N., et al. Immunohistochemical localization of transforming growth factor-β1, -β2, and -β3 latency-associated peptide in human cornea. Invest Ophthalmol Vis Sci. 35:1994;3289-3294.
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, pp. 3289-3294
-
-
Nishida, K.1
Kinoshita, S.2
Yokoi, N.3
-
30
-
-
0028952705
-
Transforming growth factor-β1, -β2, and -β3 mRNA expression in human cornea
-
Nishida K., Sotozono C., Adachi W., et al. Transforming growth factor-β1, -β2, and -β3 mRNA expression in human cornea. Curr Eye Res. 14:1995;235-241.
-
(1995)
Curr Eye Res
, vol.14
, pp. 235-241
-
-
Nishida, K.1
Sotozono, C.2
Adachi, W.3
-
31
-
-
0030970130
-
Beta-ig: Molecular cloning and in situ hybridization in corneal tissues
-
Rawe I.M., Zhan Q., Burrows R., Bennett K., Cintron C. Beta-ig molecular cloning and in situ hybridization in corneal tissues . Invest Ophthalmol Vis Sci. 38:1997;893-900.
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 893-900
-
-
Rawe, I.M.1
Zhan, Q.2
Burrows, R.3
Bennett, K.4
Cintron, C.5
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