-
4
-
-
0035504694
-
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
-
S. Biswas, F.L. Munier, J. Yardley Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy Hum Mol Genet 10 2001 2415 2423
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2415-2423
-
-
Biswas, S.1
Munier, F.L.2
Yardley, J.3
-
5
-
-
0036566556
-
VSX1: A gene for posterior polymorphous dystrophy and keratoconus
-
E. Heon, A. Greenberg, K.K. Kopp VSX1 a gene for posterior polymorphous dystrophy and keratoconus Hum Mol Genet 11 2002 1029 1036
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1029-1036
-
-
Heon, E.1
Greenberg, A.2
Kopp, K.K.3
-
6
-
-
0026023781
-
Corneal dystrophies among patients undergoing keratoplasty in Saudi Arabia
-
M.F. al Faran, K.F. Tabbara Corneal dystrophies among patients undergoing keratoplasty in Saudi Arabia Cornea 10 1991 13 16
-
(1991)
Cornea
, vol.10
, pp. 13-16
-
-
Al Faran, M.F.1
Tabbara, K.F.2
-
7
-
-
3342989744
-
Frequency, distribution, and outcome of keratoplasty for corneal dystrophies at a tertiary eye care center in South India
-
H. Pandrowala, A. Bansal, G.K. Vemuganti, G.N. Rao Frequency, distribution, and outcome of keratoplasty for corneal dystrophies at a tertiary eye care center in South India Cornea 23 2004 541 546
-
(2004)
Cornea
, vol.23
, pp. 541-546
-
-
Pandrowala, H.1
Bansal, A.2
Vemuganti, G.K.3
Rao, G.N.4
-
8
-
-
0017807244
-
Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy
-
G.F. Judisch, I.H. Maumenee Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy Am J Ophthalmol 85 1978 606 612
-
(1978)
Am J Ophthalmol
, vol.85
, pp. 606-612
-
-
Judisch, G.F.1
Maumenee, I.H.2
-
9
-
-
0023128462
-
Congenital hereditary corneal edema of Maumenee: Its clinical features, management, and pathology
-
C.M. Kirkness, A. McCartney, N.S. Rice, A. Garner, A.D. Steele Congenital hereditary corneal edema of Maumenee its clinical features, management, and pathology Br J Ophthalmol 71 1987 130 144
-
(1987)
Br J Ophthalmol
, vol.71
, pp. 130-144
-
-
Kirkness, C.M.1
McCartney, A.2
Rice, N.S.3
Garner, A.4
Steele, A.D.5
-
10
-
-
0028895206
-
Linkage of congenital hereditary endothelial dystrophy to chromosome 20
-
N.M. Toma, N.D. Ebenezer, C.F. Inglehearn, C. Plant, L.A. Ficker, S.S. Bhattacharya Linkage of congenital hereditary endothelial dystrophy to chromosome 20 Hum Mol Genet 4 1995 2395 2398
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2395-2398
-
-
Toma, N.M.1
Ebenezer, N.D.2
Inglehearn, C.F.3
Plant, C.4
Ficker, L.A.5
Bhattacharya, S.S.6
-
11
-
-
0032877983
-
Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping
-
C.K. Hand, D.L. Harmon, S.M. Kennedy, J.S. FitzSimon, L.M. Collum, N.A. Parfrey Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping Genomics 61 1999 1 4
-
(1999)
Genomics
, vol.61
, pp. 1-4
-
-
Hand, C.K.1
Harmon, D.L.2
Kennedy, S.M.3
Fitzsimon, J.S.4
Collum, L.M.5
Parfrey, N.A.6
-
12
-
-
0027980099
-
Congenital hereditary endothelial dystrophy associated with nail hypoplasia
-
R. Stirling, J. Pitts, N.R. Galloway, K. Robson, R. Newbury-Ecob Congenital hereditary endothelial dystrophy associated with nail hypoplasia Br J Ophthalmol 78 1994 77 78
-
(1994)
Br J Ophthalmol
, vol.78
, pp. 77-78
-
-
Stirling, R.1
Pitts, J.2
Galloway, N.R.3
Robson, K.4
Newbury-Ecob, R.5
-
13
-
-
0342906303
-
Blasen- und dellenförmige Endotheldystrophie der Hornhaut
-
H. Schlichting Blasen- und dellenförmige Endotheldystrophie der Hornhaut Klin Mbl Augenheilk 107 1941 425 435
-
(1941)
Klin Mbl Augenheilk
, vol.107
, pp. 425-435
-
-
Schlichting, H.1
-
15
-
-
33846428903
-
Congenital hereditary corneal dystrophy
-
A.E. Maumenee Congenital hereditary corneal dystrophy Am J Ophthalmol 50 1960 1114 1124
-
(1960)
Am J Ophthalmol
, vol.50
, pp. 1114-1124
-
-
Maumenee, A.E.1
-
16
-
-
7444226218
-
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
-
S. Shimizu, C. Krafchak, N. Fuse A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10 Am J Med Genet 130A 2004 372 377
-
(2004)
Am J Med Genet
, vol.130
, pp. 372-377
-
-
Shimizu, S.1
Krafchak, C.2
Fuse, N.3
-
17
-
-
0014578568
-
Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study
-
W.G. Pearce, R.C. Tripathi, G. Morgan Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study Br J Ophthalmol 53 1969 577 591
-
(1969)
Br J Ophthalmol
, vol.53
, pp. 577-591
-
-
Pearce, W.G.1
Tripathi, R.C.2
Morgan, G.3
-
18
-
-
0023857465
-
Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea
-
A.C. McCartney, C.M. Kirkness Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea Eye 2 Pt 1 1988 63 70
-
(1988)
Eye
, vol.2
, Issue.1 PART
, pp. 63-70
-
-
McCartney, A.C.1
Kirkness, C.M.2
-
19
-
-
0034098774
-
Allegro, a new computer program for multipoint linkage analysis
-
D.F. Gudbjartsson, K. Jonasson, M.L. Frigge, A. Kong Allegro, a new computer program for multipoint linkage analysis Nat Genet 25 2000 12 13
-
(2000)
Nat Genet
, vol.25
, pp. 12-13
-
-
Gudbjartsson, D.F.1
Jonasson, K.2
Frigge, M.L.3
Kong, A.4
-
20
-
-
0028877463
-
Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
-
E. Lander, L. Kruglyak Genetic dissection of complex traits guidelines for interpreting and reporting linkage results Nat Genet 11 1995 241 247
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
22
-
-
0017219076
-
Primäre bandförmige Hornhautdegeneration und ihre Assoziation mit anderen erblichen Hornhautveränderungen
-
W. Lisch Primäre bandförmige Hornhautdegeneration und ihre Assoziation mit anderen erblichen Hornhautveränderungen Klin Monatsbl Augenheilkd 169 1976 717 727
-
(1976)
Klin Monatsbl Augenheilkd
, vol.169
, pp. 717-727
-
-
Lisch, W.1
-
23
-
-
0022271735
-
Posterior polymorphous corneal dystrophy: A disease characterized by epithelial-like endothelial cells which influence management and prognosis
-
J.H. Krachmer Posterior polymorphous corneal dystrophy a disease characterized by epithelial-like endothelial cells which influence management and prognosis Trans Am Ophthalmol Soc 83 1985 413 475
-
(1985)
Trans Am Ophthalmol Soc
, vol.83
, pp. 413-475
-
-
Krachmer, J.H.1
-
24
-
-
0025062559
-
Recurrence of posterior polymorphous corneal dystrophy after penetrating keratoplasty
-
S.A. Boruchoff, M.J. Weiner, D.M. Albert Recurrence of posterior polymorphous corneal dystrophy after penetrating keratoplasty Am J Ophthalmol 109 1990 323 328
-
(1990)
Am J Ophthalmol
, vol.109
, pp. 323-328
-
-
Boruchoff, S.A.1
Weiner, M.J.2
Albert, D.M.3
-
25
-
-
0013815166
-
Congenital hereditary corneal dystrophy
-
R.H. Keates, T. Cvintal Congenital hereditary corneal dystrophy Am J Ophthalmol 60 1965 892 894
-
(1965)
Am J Ophthalmol
, vol.60
, pp. 892-894
-
-
Keates, R.H.1
Cvintal, T.2
-
26
-
-
0028838036
-
Congenital hereditary endothelial dystrophy associated with glaucoma
-
P.B. Mullaney, J.M. Risco, K. Teichmann, L. Millar Congenital hereditary endothelial dystrophy associated with glaucoma Ophthalmology 102 1995 186 192
-
(1995)
Ophthalmology
, vol.102
, pp. 186-192
-
-
Mullaney, P.B.1
Risco, J.M.2
Teichmann, K.3
Millar, L.4
-
27
-
-
0024426247
-
Anterior mesenchymal dysgenesis of the eye. Congenital hereditary endothelial dystrophy and congenital glaucoma
-
O.O. Pedersen, A. Rushood, E.G. Olsen Anterior mesenchymal dysgenesis of the eye. Congenital hereditary endothelial dystrophy and congenital glaucoma Acta Ophthalmol 67 1989 470 476
-
(1989)
Acta Ophthalmol
, vol.67
, pp. 470-476
-
-
Pedersen, O.O.1
Rushood, A.2
Olsen, E.G.3
-
28
-
-
0018822617
-
Glaucoma due to endothelialization of the anterior chamber angle. a comparison of posterior polymorphous dystrophy of the cornea and Chandler's syndrome
-
M.M. Rodrigues, C.D. Phelps, J.H. Krachmer, G.W. Cibis, T.A. Weingeist Glaucoma due to endothelialization of the anterior chamber angle. A comparison of posterior polymorphous dystrophy of the cornea and Chandler's syndrome Arch Ophthalmol 98 1980 688 696
-
(1980)
Arch Ophthalmol
, vol.98
, pp. 688-696
-
-
Rodrigues, M.M.1
Phelps, C.D.2
Krachmer, J.H.3
Cibis, G.W.4
Weingeist, T.A.5
-
29
-
-
18744393073
-
Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome
-
K.M. Lower, G. Turner, B.A. Kerr Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome Nat Genet 32 2002 661 665
-
(2002)
Nat Genet
, vol.32
, pp. 661-665
-
-
Lower, K.M.1
Turner, G.2
Kerr, B.A.3
-
30
-
-
16944364984
-
X-linked situs abnormalities result from mutations in ZIC3
-
M. Gebbia, G.B. Ferrero, G. Pilia X-linked situs abnormalities result from mutations in ZIC3 Nat Genet 17 1997 305 308
-
(1997)
Nat Genet
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
-
31
-
-
0026742127
-
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
O. Attree, I.M. Olivos, I. Okabe The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase Nature 358 1992 239 242
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
-
32
-
-
13344261391
-
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
-
G. Pilia, R.M. Hughes-Benzie, A. MacKenzie Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome Nat Genet 12 1996 241 247
-
(1996)
Nat Genet
, vol.12
, pp. 241-247
-
-
Pilia, G.1
Hughes-Benzie, R.M.2
MacKenzie, A.3
-
33
-
-
0019188929
-
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation
-
G.S. Pai, J.A. Sprenkle, T.T. Do, C.E. Mareni, B.R. Migeon Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation Proc Natl Acad Sci U S A 77 1980 2810 2813
-
(1980)
Proc Natl Acad Sci U S a
, vol.77
, pp. 2810-2813
-
-
Pai, G.S.1
Sprenkle, J.A.2
Do, T.T.3
Mareni, C.E.4
Migeon, B.R.5
-
34
-
-
0033775672
-
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
-
K. Kutsche, H. Yntema, A. Brandt Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation Nat Genet 26 2000 247 250
-
(2000)
Nat Genet
, vol.26
, pp. 247-250
-
-
Kutsche, K.1
Yntema, H.2
Brandt, A.3
-
35
-
-
0037311473
-
Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy
-
J.D. Gottsch, A.L. Bowers, E.H. Margulies Serial analysis of gene expression in the corneal endothelium of Fuchs' dystrophy Invest Ophthalmol Vis Sci 44 2003 594 599
-
(2003)
Invest Ophthalmol Vis Sci
, vol.44
, pp. 594-599
-
-
Gottsch, J.D.1
Bowers, A.L.2
Margulies, E.H.3
-
36
-
-
0015714871
-
Affected asymptomatic relatives in congenital hereditary endothelial dystrophy
-
J.E. Levenson, J.W. Chandler, H.E. Kaufman Affected asymptomatic relatives in congenital hereditary endothelial dystrophy Am J Ophthalmol 76 1973 967 971
-
(1973)
Am J Ophthalmol
, vol.76
, pp. 967-971
-
-
Levenson, J.E.1
Chandler, J.W.2
Kaufman, H.E.3
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