-
1
-
-
0037370521
-
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
-
Milam A.H., et al. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology. 110:2003;549-558.
-
(2003)
Ophthalmology
, vol.110
, pp. 549-558
-
-
Milam, A.H.1
-
2
-
-
0037313712
-
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
-
Udar N., et al. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum. Mutat. 21:2003;170-171.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 170-171
-
-
Udar, N.1
-
3
-
-
0037091102
-
Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy
-
Chen S., et al. Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. Hum. Mol. Genet. 11:2002;873-884.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 873-884
-
-
Chen, S.1
-
4
-
-
0042131538
-
RPGRIP1 s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
-
Castagnet P., et al. RPGRIP1 s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons. Hum. Mol. Genet. 12:2003;1847-1863.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1847-1863
-
-
Castagnet, P.1
-
5
-
-
0036667989
-
Species-specific subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species
-
Mavlyutov T.A., et al. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum. Mol. Genet. 11:2002;1899-1907.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1899-1907
-
-
Mavlyutov, T.A.1
-
6
-
-
1142291300
-
Mutations in CRB1 are a major risk factor for the development of Coats-like exudative vasculopathy in retinitis pigmentosa, and are the cause of 13% of Leber congenital amaurosis
-
den Hollander A.I., et al. Mutations in CRB1 are a major risk factor for the development of Coats-like exudative vasculopathy in retinitis pigmentosa, and are the cause of 13% of Leber congenital amaurosis. Am. J. Hum. Genet. 69:2001;653.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 653
-
-
Den Hollander, A.I.1
-
7
-
-
10744224972
-
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
-
Mehalow A.K., et al. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum. Mol. Genet. 12:2003;2179-2189.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2179-2189
-
-
Mehalow, A.K.1
-
8
-
-
0038364012
-
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
-
Jacobson S.G., et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 12:2003;1073-1078.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1073-1078
-
-
Jacobson, S.G.1
-
9
-
-
0037108934
-
The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1
-
Akey D.T., et al. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum. Mol. Genet. 11:2002;2723-2733.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2723-2733
-
-
Akey, D.T.1
-
10
-
-
0242331665
-
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
-
Ramamurthy V., et al. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc. Natl. Acad. Sci. U. S. A. 100:2003;12630-12635.
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, pp. 12630-12635
-
-
Ramamurthy, V.1
-
11
-
-
85030902147
-
Rpe65 is a retinyl-ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells
-
in press
-
Mata, N.L. et al. Rpe65 is a retinyl-ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells. J. Biol. Chem. (in press).
-
J. Biol. Chem.
-
-
Mata, N.L.1
-
12
-
-
0026026516
-
Membrane phospholipids as an energy source in the operation of the visual cycle
-
Rando R.R. Membrane phospholipids as an energy source in the operation of the visual cycle. Biochemistry. 30:1991;595-602.
-
(1991)
Biochemistry
, vol.30
, pp. 595-602
-
-
Rando, R.R.1
-
13
-
-
0036778232
-
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin
-
Hanein S., et al. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum. Mutat. 20:2002;322-323.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 322-323
-
-
Hanein, S.1
-
14
-
-
0031255068
-
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
-
Gu S., et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17:1997;194-197.
-
(1997)
Nat. Genet.
, vol.17
, pp. 194-197
-
-
Gu, S.1
-
15
-
-
0034973574
-
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
-
Thompson D.A., et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat. Genet. 28:2001;123-124.
-
(2001)
Nat. Genet.
, vol.28
, pp. 123-124
-
-
Thompson, D.A.1
-
16
-
-
0034964652
-
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
-
den Hollander A.I., et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am. J. Hum. Genet. 69:2001;198-203.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 198-203
-
-
Den Hollander, A.I.1
-
17
-
-
0033862099
-
Early-onset severe rod-cone dystrophy in young children with RPE65 mutations
-
Lorenz B., et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 41:2000;2735-2742.
-
(2000)
Invest. Ophthalmol. Vis. Sci.
, vol.41
, pp. 2735-2742
-
-
Lorenz, B.1
-
18
-
-
0041705916
-
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
-
Heegaard S., et al. An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis. Br. J. Ophthalmol. 87:2003;980-983.
-
(2003)
Br. J. Ophthalmol.
, vol.87
, pp. 980-983
-
-
Heegaard, S.1
-
19
-
-
1142303395
-
Morphological changes at the photoreceptor cell outer segments and synapses in a 26-week fetus carrying the GUCY2D mutation
-
Porto F.B.O., Perrault I. Morphological changes at the photoreceptor cell outer segments and synapses in a 26-week fetus carrying the GUCY2D mutation. Invest. Ophthalmol. Vis. Sci. 42:2001;S363.
-
(2001)
Invest. Ophthalmol. Vis. Sci.
, vol.42
, pp. 363
-
-
Porto, F.B.O.1
Perrault, I.2
-
20
-
-
0036632603
-
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
-
Porto F.B., et al. Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). J. Gene Med. 4:2002;390-396.
-
(2002)
J. Gene Med.
, vol.4
, pp. 390-396
-
-
Porto, F.B.1
-
21
-
-
0037166342
-
Recovery of visual functions in mouse model of Leber congenital amaurosis
-
van Hooser J.P., et al. Recovery of visual functions in mouse model of Leber congenital amaurosis. J. Biol. Chem. 277:2002;19173-19182.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 19173-19182
-
-
Van Hooser, J.P.1
-
22
-
-
0035032662
-
Gene therapy restores vision in a canine model of childhood blindness
-
Acland G.M., et al. Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet. 28:2001;92-95.
-
(2001)
Nat. Genet.
, vol.28
, pp. 92-95
-
-
Acland, G.M.1
-
23
-
-
0041312614
-
Gene transfer in the RPE65 null mutation dog: Relationship between construct volume, visual behavior and electroretinographic (ERG) results
-
Ford M., et al. Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results. Doc. Ophthalmol. 107:2003;79-86.
-
(2003)
Doc. Ophthalmol.
, vol.107
, pp. 79-86
-
-
Ford, M.1
-
24
-
-
0037379354
-
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
-
Narfström K., et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest. Ophthalmol. Vis. Sci. 44:2003;1663-1672.
-
(2003)
Invest. Ophthalmol. Vis. Sci.
, vol.44
, pp. 1663-1672
-
-
Narfström, K.1
|