-
4
-
-
0030753202
-
Characterization of point mutations in patients with X-linked ichthyosis: Effects on the structure and function of the steroid sulfatase protein
-
(1997)
J Biol Chem
, vol.272
, pp. 20756-20763
-
-
Alperin, E.S.1
Shapiro, L.J.2
-
5
-
-
0014385482
-
La cornea verticillata (Gruber) et ses relations avec la maladie de Fabry (Angiokeratoma corporis diffusum)
-
(1968)
Ophthalmologica
, vol.156
, pp. 232-238
-
-
Franceschetti, A.T.1
-
35
-
-
17344362372
-
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal dystrophy
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1268-1275
-
-
Nishida, K.1
Honma, Y.2
Dota, A.3
-
40
-
-
0007911546
-
Knotchenformige Hornhautdegeneration (Groenouw)
-
Vogt A, ed. Spaltlampenmikroskopie. Berlin: Julius Springer
-
(1930)
, pp. 122-125
-
-
Vogt, A.1
-
48
-
-
0024464492
-
Differential diagnosis of corneal dystrophies of the Groenouw I, Reis-Buckler and Thiel-Behnke type
-
(1989)
Fortschr Ophthalmol
, vol.86
, pp. 265-271
-
-
Weidle, E.G.1
-
49
-
-
0033087421
-
Honeycomb-shaped corneal dystrophy of Thiel and Behnke. Reclassification and distinction from Reis-Bucklers' corneal dystrophy
-
(1999)
Klin Monatsbl Augenheilkd
, vol.214
, pp. 125-135
-
-
Weidle, E.G.1
-
50
-
-
0029050398
-
Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): A light and electron microscopic study of eight corneas and a review of the literature
-
(1995)
Cornea
, vol.14
, pp. 333-354
-
-
Kuchle, M.1
Green, W.R.2
Volcker, H.E.3
-
59
-
-
0007960924
-
A familial corneal dystrophy (gelatinous drop-like dystrophy). The relationship between hyaline degeneration and band-shaped keratopathy
-
(1932)
J Jpn Ophthalmol Soc
, vol.36
, pp. 1634-1645
-
-
Kiyosawa, M.1
-
63
-
-
0025331341
-
Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment
-
(1990)
Acta Ophthalmol
, vol.68
, pp. 384-389
-
-
Muller, H.U.1
-
65
-
-
0028037756
-
Severe granular dystrophy: A pedigree with presumed homozygotes
-
(1994)
Eye
, vol.8
, Issue.PART 4
, pp. 448-452
-
-
Diaper, C.J.1
-
81
-
-
0014640130
-
Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome
-
(1969)
Ann Clin Res
, vol.1
, pp. 314-324
-
-
Meretoja, J.1
-
91
-
-
0002141995
-
Disorders of glycosaminoglycans (mucopolysaccharides) and proteoglycans
-
Klintworth GK, Garner A, eds. The pathobiology of ocular disease: a dynamic approach. New York: Marcel Dekker
-
(1994)
, pp. 855-892
-
-
Klintworth, G.K.1
-
92
-
-
0033034102
-
Measurement of activities of human serum sulfotransferases which transfer sulfate to the galactose residues of keratan sulfate and to the nonreducing end N-acetylglucosamine residues of N-acetyllactosamine trisaccharide: Comparison between normal controls and patients with macular corneal dystrophy
-
(1999)
J Biochem Tokyo
, vol.125
, pp. 245-252
-
-
Hasegawa, N.1
Torii, T.2
Nagaoka, I.3
-
98
-
-
0032191018
-
Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD)
-
(1998)
Mol Genet Metab
, vol.65
, pp. 143-154
-
-
Lee, J.1
Jiao, X.2
Hejtmancik, J.F.3
-
100
-
-
84879360849
-
Une nouvelle dystrophie heredo-familiale de la cornee
-
(1956)
J Genet Hum
, vol.5
, pp. 189-196
-
-
Francois, J.1
-
119
-
-
0033047604
-
Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct
-
(1999)
Br J Ophthalmol
, vol.83
, pp. 115-119
-
-
Callaghan, M.1
Hand, C.K.2
Kennedy, S.M.3
-
122
-
-
0008006914
-
Part 2: Cornea and sclera
-
Duke-Elder S, ed. Diseases of the outer eye. System of ophthalmology. VIII. London: Henry Kimpton
-
(1965)
, pp. 952-955
-
-
Duke-Elder, S.1
Leigh, A.G.2
-
123
-
-
0031895167
-
Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations
-
(1998)
J Med Genet
, vol.35
, pp. 258-259
-
-
Albin, R.L.1
-
129
-
-
0028928629
-
On the location of the cone and the etiology of keratoconus
-
(1995)
Cornea
, vol.14
, pp. 142-143
-
-
Baum, J.1
-
130
-
-
0029998678
-
Epithelial injury induces keratocyte apoptosis: Hypothesized role for the interleukin-system in the modulation of corneal tissue organization and wound healing
-
(1996)
Exp Eye Res
, vol.62
, pp. 325-337
-
-
Wilson, S.E.1
He, Y.-G.2
Weng, J.3
-
131
-
-
0031904335
-
Everett Kinsey Lecture. Keratocyte apoptosis in refractive surgery
-
(1998)
CLAO J
, vol.24
, pp. 181-185
-
-
Wilson, S.E.1
-
132
-
-
0027314116
-
Modification of prostiglandin E2 and collagen synthesis in keratoconus fibroblasts associated with an increase of interleukin 1 alpha receptor number
-
(1993)
C R Acad Sci
, vol.316
, pp. 425-430
-
-
Bereau, J.1
Fabre, E.J.2
Hecquet, C.3
-
142
-
-
0008006915
-
-
Heredity in ophthalmology. St. Louis: Mosby
-
(1961)
-
-
Francois, J.1
-
149
-
-
0000456721
-
Sur une nouvelle forme de dystrophie corneenne (dystrophia filiformis profunda corneae) associee a un keratocone
-
(1947)
Ophtalmologica
, vol.114
, pp. 246
-
-
Maeder, G.1
Danis, P.2
-
150
-
-
0014236348
-
Keratoconus in congenital diffuse tapetoretinal degeneration
-
(1968)
Ophtalmologica
, vol.155
, pp. 8-15
-
-
Karel, I.1
-
151
-
-
0002919992
-
A family affected with keratoconus and anterior polar cataract
-
(1931)
Br J Ophtalmol
, vol.15
, pp. 23-25
-
-
Sander, P.1
-
155
-
-
0007908989
-
Ein Fall von Arachnodaktylie (Dystrophia mesodermalis congenita): Typus Marfan
-
(1952)
Dermatologica
, vol.104
, pp. 321-325
-
-
Storck, H.1
-
164
-
-
0026065123
-
Autosomal dominant megalocornea with congenital glaucoma: Evidence for germ-line mosaicism
-
(1991)
Can J Ophtalmol
, vol.26
, pp. 21-26
-
-
Pearce, W.G.1
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