-
1
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
1:STN:280:DyaK3s3mvVSntQ%3D%3D 10.1016/0140-6736(93)90983-N 7684480
-
M Irons ER Elias G Salen GS Tint AK Batta 1993 Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome Lancet 341 8857 1414 1:STN:280:DyaK3s3mvVSntQ%3D%3D 10.1016/0140-6736(93)90983-N 7684480
-
(1993)
Lancet
, vol.341
, Issue.8857
, pp. 1414
-
-
Irons, M.1
Elias, E.R.2
Salen, G.3
Tint, G.S.4
Batta, A.K.5
-
2
-
-
0032539605
-
Molecular cloning and expression of the human Δ 7 sterol reductase
-
1:CAS:528:DyaK1cXht1ajs7g%3D 10.1073/pnas.95.4.1899 9465114
-
FF Moebius BU Fitzky JN Lee Y-K Paik H Glossmann 1998 Molecular cloning and expression of the human Δ 7 sterol reductase Proc Natl Acad Sci 95 4 1899 1902 1:CAS:528:DyaK1cXht1ajs7g%3D 10.1073/pnas.95.4.1899 9465114
-
(1998)
Proc Natl Acad Sci
, vol.95
, Issue.4
, pp. 1899-1902
-
-
Moebius, F.F.1
Fitzky, B.U.2
Lee, J.N.3
Paik, Y.-K.4
Glossmann, H.5
-
3
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
1:STN:280:DyaK2c%2FotF2jsw%3D%3D 10.1056/NEJM199401133300205 8259166
-
GS Tint M Irons ER Elias, et al. 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome N Engl J Med 330 2 107 113 1:STN:280:DyaK2c%2FotF2jsw%3D%3D 10.1056/NEJM199401133300205 8259166
-
(1994)
N Engl J Med
, vol.330
, Issue.2
, pp. 107-113
-
-
Tint, G.S.1
Irons, M.2
Elias, E.R.3
-
4
-
-
0029146619
-
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
-
1:STN:280:DyaK2MzjtlSitA%3D%3D 10.1016/S0022-3476(95)70261-X 7608816
-
GS Tint G Salen AK Batta, et al. 1995 Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome J Pediatr 127 1 82 87 1:STN:280:DyaK2MzjtlSitA%3D%3D 10.1016/S0022-3476(95)70261-X 7608816
-
(1995)
J Pediatr
, vol.127
, Issue.1
, pp. 82-87
-
-
Tint, G.S.1
Salen, G.2
Batta, A.K.3
-
5
-
-
0033808659
-
RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis
-
1:CAS:528:DC%2BD3cXms1yisr8%3D 10.1006/mgme.2000.3069 11001807
-
FD Porter 2000 RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis Mol Genet Metab 71 1-2 163 174 1:CAS:528:DC%2BD3cXms1yisr8%3D 10.1006/mgme.2000.3069 11001807
-
(2000)
Mol Genet Metab
, vol.71
, Issue.12
, pp. 163-174
-
-
Porter, F.D.1
-
6
-
-
0345168098
-
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome
-
10.1001/archopht.121.12.1738 14662594
-
ER Elias R Hansen M Irons N Quinn AB Fulton 2003 Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome Arch Ophthalmol 121 1738 1743 10.1001/archopht.121.12.1738 14662594
-
(2003)
Arch Ophthalmol
, vol.121
, pp. 1738-1743
-
-
Elias, E.R.1
Hansen, R.2
Irons, M.3
Quinn, N.4
Fulton, A.B.5
-
7
-
-
3543086891
-
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: Electrophysiologic, biochemical, and morphologic features
-
10.1001/archopht.122.8.1190 15302661
-
SJ Fliesler NS Peachey MJ Richards BA Nagel DK Vaughan 2004 Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features Arch Ophthalmol 122 8 1190 1200 10.1001/archopht.122.8.1190 15302661
-
(2004)
Arch Ophthalmol
, vol.122
, Issue.8
, pp. 1190-1200
-
-
Fliesler, S.J.1
Peachey, N.S.2
Richards, M.J.3
Nagel, B.A.4
Vaughan, D.K.5
-
8
-
-
0034061624
-
The development of scotopic sensitivity
-
1:STN:280:DC%2BD3c3ls1Ggug%3D%3D 10798680
-
AB Fulton RM Hansen 2000 The development of scotopic sensitivity Invest Ophthalmol Vis Sci 41 1588 1596 1:STN:280:DC%2BD3c3ls1Ggug%3D%3D 10798680
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 1588-1596
-
-
Fulton, A.B.1
Hansen, R.M.2
-
9
-
-
27244454673
-
Development of the cone ERG in infants
-
10.1167/iovs.05-0382 16123452
-
RM Hansen AB Fulton 2005 Development of the cone ERG in infants Invest Ophthalmol Vis Sci 46 9 3458 3462 10.1167/iovs.05-0382 16123452
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, Issue.9
, pp. 3458-3462
-
-
Hansen, R.M.1
Fulton, A.B.2
-
10
-
-
0026668916
-
Effects of halothane on children's electroretinograms
-
1:STN:280:DyaK38zot12isw%3D%3D 1513585
-
S Wongpichedchai RM Hansen B Koka VM Gudas AB Fulton 1992 Effects of halothane on children's electroretinograms Ophthalmology 99 1309 1312 1:STN:280:DyaK38zot12isw%3D%3D 1513585
-
(1992)
Ophthalmology
, vol.99
, pp. 1309-1312
-
-
Wongpichedchai, S.1
Hansen, R.M.2
Koka, B.3
Gudas, V.M.4
Fulton, A.B.5
-
11
-
-
0029151685
-
Phototransduction in human cones measured using the a-wave of the ERG
-
1:STN:280:DyaK287gtlOmuw%3D%3D 10.1016/0042-6989(95)00034-W 8533321
-
DC Hood DG Birch 1995 Phototransduction in human cones measured using the a-wave of the ERG Vis Res 35 20 2801 2810 1:STN:280:DyaK287gtlOmuw%3D%3D 10.1016/0042-6989(95)00034-W 8533321
-
(1995)
Vis Res
, vol.35
, Issue.20
, pp. 2801-2810
-
-
Hood, D.C.1
Birch, D.G.2
-
12
-
-
0027664945
-
Human cone receptor activity: The leading edge of the a-wave and models of receptor activity
-
1:STN:280:DyaK2c%2FjtF2ntQ%3D%3D 10.1017/S0952523800006076 8217936
-
DC Hood DG Birch 1993 Human cone receptor activity: the leading edge of the a-wave and models of receptor activity Vis Neurosci 10 857 871 1:STN:280:DyaK2c%2FjtF2ntQ%3D%3D 10.1017/S0952523800006076 8217936
-
(1993)
Vis Neurosci
, vol.10
, pp. 857-871
-
-
Hood, D.C.1
Birch, D.G.2
-
13
-
-
0027407602
-
Amplification and kinetics of the activation steps in phototransduction
-
1:CAS:528:DyaK3sXitV2ksLk%3D 10.1016/0005-2728(93)90038-H 8382952
-
EN Pugh Jr TD Lamb 1993 Amplification and kinetics of the activation steps in phototransduction Biochim Biophys Acta 1141 111 149 1:CAS:528:DyaK3sXitV2ksLk%3D 10.1016/0005-2728(93)90038-H 8382952
-
(1993)
Biochim Biophys Acta
, vol.1141
, pp. 111-149
-
-
Pugh Jr., E.N.1
Lamb, T.D.2
-
14
-
-
0026505707
-
A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors
-
1:CAS:528:DyaK38XhslSlurs%3D 1326052
-
TD Lamb EN Pugh Jr 1992 A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors J Physiol 449 719 758 1:CAS:528:DyaK38XhslSlurs%3D 1326052
-
(1992)
J Physiol
, vol.449
, pp. 719-758
-
-
Lamb, T.D.1
Pugh Jr., E.N.2
-
15
-
-
34548803453
-
Contribution of post-receptoral cells to the a-wave of the human photopic electroretinogram
-
10.1016/j.visres.2007.07.021 17850841
-
K Bradshaw 2007 Contribution of post-receptoral cells to the a-wave of the human photopic electroretinogram Vis Res 47 22 2878 2888 10.1016/j.visres.2007.07.021 17850841
-
(2007)
Vis Res
, vol.47
, Issue.22
, pp. 2878-2888
-
-
Bradshaw, K.1
-
16
-
-
0030094721
-
Photoreceptor and bipolar cell contributions to the cat electroretinogram: A kinetic model for the early part of the flash response
-
1:STN:280:DyaK287ptlChsQ%3D%3D 10.1364/JOSAA.13.000613
-
JG Robson LJ Frishman 1996 Photoreceptor and bipolar cell contributions to the cat electroretinogram: a kinetic model for the early part of the flash response J Opt Soc Am 13 613 622 1:STN:280:DyaK287ptlChsQ%3D%3D 10.1364/JOSAA.13.000613
-
(1996)
J Opt Soc Am
, vol.13
, pp. 613-622
-
-
Robson, J.G.1
Frishman, L.J.2
-
17
-
-
0028226741
-
A proximal retinal component in the primate photopic ERG a-wave
-
1:STN:280:DyaK2c7ls1KmsA%3D%3D 8113014
-
RA Bush PA Sieving 1994 A proximal retinal component in the primate photopic ERG a-wave Invest Ophthalmol Vis Sci 35 635 645 1:STN:280: DyaK2c7ls1KmsA%3D%3D 8113014
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, pp. 635-645
-
-
Bush, R.A.1
Sieving, P.A.2
-
18
-
-
0017568383
-
A study of vision in cerebral palsy
-
1:STN:280:DyaE2s3msVejug%3D%3D 900255
-
GP Lo Cascio 1977 A study of vision in cerebral palsy Am J Optom Physiol Opt 54 332 337 1:STN:280:DyaE2s3msVejug%3D%3D 900255
-
(1977)
Am J Optom Physiol Opt
, vol.54
, pp. 332-337
-
-
Lo Cascio, G.P.1
-
19
-
-
2442671561
-
Contributions of cone photoreceptors and post-receptoral mechanisms to the human photopic electroretinogram
-
10.1113/jphysiol.2004.061523
-
C Freidburg CP Allen PJ Mason TD Lamb 2004 Contributions of cone photoreceptors and post-receptoral mechanisms to the human photopic electroretinogram J Physiol 556 3 819 834 10.1113/jphysiol.2004.061523
-
(2004)
J Physiol
, vol.556
, Issue.3
, pp. 819-834
-
-
Freidburg, C.1
Allen, C.P.2
Mason, P.J.3
Lamb, T.D.4
-
20
-
-
0030220591
-
An alternative phototransduction model for human rod and cone ERG a-waves: Normal parameters and variation with age
-
1:STN:280:DyaK2s%2FnsFCgsg%3D%3D 10.1016/0042-6989(95)00327-4 8917821
-
AV Cideciyan SG Jacobson 1996 An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age Vis Res 36 2609 2621 1:STN:280:DyaK2s%2FnsFCgsg%3D%3D 10.1016/0042-6989(95)00327-4 8917821
-
(1996)
Vis Res
, vol.36
, pp. 2609-2621
-
-
Cideciyan, A.V.1
Jacobson, S.G.2
-
21
-
-
0037338496
-
Rod and cone contributions to the a-wave of the electroretinogram of the macaque
-
1:CAS:528:DC%2BD3sXivFSrtLY%3D 10.1113/jphysiol.2002.030304 12562933
-
JG Robson SM Saszik J Ahmed LJ Frishman 2003 Rod and cone contributions to the a-wave of the electroretinogram of the macaque J Physiol 547 Pt 2 509 530 1:CAS:528:DC%2BD3sXivFSrtLY%3D 10.1113/jphysiol.2002.030304 12562933
-
(2003)
J Physiol
, vol.547
, Issue.PART 2
, pp. 509-530
-
-
Robson, J.G.1
Saszik, S.M.2
Ahmed, J.3
Frishman, L.J.4
-
22
-
-
0030220591
-
An alternative phototransduction model for human rod and cone ERG a-waves: Normal parameters and variation with age
-
1:STN:280:DyaK2s%2FnsFCgsg%3D%3D 10.1016/0042-6989(95)00327-4 8917821
-
AV Cideciyan SG Jacobson 1996 An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age Vis Res 36 2609 2621 1:STN:280:DyaK2s%2FnsFCgsg%3D%3D 10.1016/0042-6989(95)00327-4 8917821
-
(1996)
Vis Res
, vol.36
, pp. 2609-2621
-
-
Cideciyan, A.V.1
Jacobson, S.G.2
-
23
-
-
0028229520
-
Rod phototransduction in retinitis pigmentosa: Estimation and interpretation of parameters derived from the rod a-wave
-
1:STN:280:DyaK2c3ms1GlsA%3D%3D 8206712
-
DC Hood DG Birch 1994 Rod phototransduction in retinitis pigmentosa: estimation and interpretation of parameters derived from the rod a-wave Invest Ophthalmol Vis Sci 35 7 2948 2961 1:STN:280:DyaK2c3ms1GlsA%3D%3D 8206712
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, Issue.7
, pp. 2948-2961
-
-
Hood, D.C.1
Birch, D.G.2
-
24
-
-
59449110694
-
Rod and rod-driven function in achromatopsia and blue cone monochromatism
-
10.1167/iovs.08-2544 18824728
-
A Moskowitz RM Hansen JD Akula SE Eklund AB Fulton 2009 Rod and rod-driven function in achromatopsia and blue cone monochromatism Invest Ophthalmol Vis Sci 50 2 950 958 10.1167/iovs.08-2544 18824728
-
(2009)
Invest Ophthalmol Vis Sci
, vol.50
, Issue.2
, pp. 950-958
-
-
Moskowitz, A.1
Hansen, R.M.2
Akula, J.D.3
Eklund, S.E.4
Fulton, A.B.5
-
25
-
-
50949110010
-
Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome
-
1:CAS:528:DC%2BD1cXotVOqu78%3D 10.1194/jlr.M800031-JLR200 18344409
-
K Boesze-Battaglia M Damek-Poprawa DC Mitchell, et al. 2008 Alteration of retinal rod outer segment membrane fluidity in a rat model of Smith-Lemli-Opitz syndrome J Lipid Res 49 7 1488 1499 1:CAS:528:DC%2BD1cXotVOqu78%3D 10.1194/jlr.M800031-JLR200 18344409
-
(2008)
J Lipid Res
, vol.49
, Issue.7
, pp. 1488-1499
-
-
Boesze-Battaglia, K.1
Damek-Poprawa, M.2
Mitchell, D.C.3
-
26
-
-
33847203236
-
Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome
-
1:CAS:528:DC%2BD2sXhsFWiurw%3D 10.1203/pdr.0b013e318030d1cf 17314682
-
SJ Fliesler DK Vaughan EC Jenewein MJ Richards BA Nagel NS Peachey 2007 Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome Pediatr Res 61 3 273 278 1:CAS:528: DC%2BD2sXhsFWiurw%3D 10.1203/pdr.0b013e318030d1cf 17314682
-
(2007)
Pediatr Res
, vol.61
, Issue.3
, pp. 273-278
-
-
Fliesler, S.J.1
Vaughan, D.K.2
Jenewein, E.C.3
Richards, M.J.4
Nagel, B.A.5
Peachey, N.S.6
-
27
-
-
33750605418
-
Uptake of cholesterol by the retina occurs primarily via a low density lipoprotein receptor-mediated process
-
1:CAS:528:DC%2BD28Xht1eisbzK 17110914
-
N Tserentsoodol J Sztein M Campos, et al. 2006 Uptake of cholesterol by the retina occurs primarily via a low density lipoprotein receptor-mediated process Mol Vis 12 1306 1318 1:CAS:528:DC%2BD28Xht1eisbzK 17110914
-
(2006)
Mol Vis
, vol.12
, pp. 1306-1318
-
-
Tserentsoodol, N.1
Sztein, J.2
Campos, M.3
-
28
-
-
77957674742
-
Retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome: Thinking beyond cholesterol deficiency
-
10.1007/978-1-4419-1399-9-55 20238050
-
SJ Fliesler 2010 Retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome: thinking beyond cholesterol deficiency Adv Exp Med Biol 664 481 489 10.1007/978-1-4419-1399-9-55 20238050
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 481-489
-
-
Fliesler, S.J.1
-
29
-
-
0037432470
-
Three-dimensional analysis of mouse rod and cone mitochondrial cristae architecture: Bioenergetic and functional implications
-
1:CAS:528:DC%2BD3sXjtVOnsrw%3D 12632036
-
GA Perkins MH Ellisman DA Fox 2003 Three-dimensional analysis of mouse rod and cone mitochondrial cristae architecture: bioenergetic and functional implications Mol Vis 9 60 73 1:CAS:528:DC%2BD3sXjtVOnsrw%3D 12632036
-
(2003)
Mol Vis
, vol.9
, pp. 60-73
-
-
Perkins, G.A.1
Ellisman, M.H.2
Fox, D.A.3
-
30
-
-
58149141478
-
Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa
-
1:CAS:528:DC%2BD1cXhsVKlt7rP 10.1038/nn.2234 19060896
-
C Punzo K Kornacker CL Cepko 2009 Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa Nat Neurosci 12 1 44 52 1:CAS:528:DC%2BD1cXhsVKlt7rP 10.1038/nn.2234 19060896
-
(2009)
Nat Neurosci
, vol.12
, Issue.1
, pp. 44-52
-
-
Punzo, C.1
Kornacker, K.2
Cepko, C.L.3
-
31
-
-
31344448313
-
Lipid hydroperoxide formation in the retina: Correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome
-
1:CAS:528:DC%2BD28Xos1arsA%3D%3D 10.1016/j.exer.2005.08.016 16199034
-
MJ Richards BA Nagel SJ Fliesler 2006 Lipid hydroperoxide formation in the retina: correlation with retinal degeneration and light damage in a rat model of Smith-Lemli-Opitz syndrome Exp Eye Res 82 3 538 541 1:CAS:528:DC%2BD28Xos1arsA%3D%3D 10.1016/j.exer.2005.08.016 16199034
-
(2006)
Exp Eye Res
, vol.82
, Issue.3
, pp. 538-541
-
-
Richards, M.J.1
Nagel, B.A.2
Fliesler, S.J.3
-
32
-
-
31344439518
-
Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome
-
1:CAS:528:DC%2BD28Xos1aktQ%3D%3D 10.1016/j.exer.2005.08.008 16360150
-
DK Vaughan NS Peachey MJ Richards B Buchan SJ Fliesler 2006 Light-induced exacerbation of retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome Exp Eye Res 82 3 496 504 1:CAS:528:DC%2BD28Xos1aktQ%3D%3D 10.1016/j.exer.2005.08.008 16360150
-
(2006)
Exp Eye Res
, vol.82
, Issue.3
, pp. 496-504
-
-
Vaughan, D.K.1
Peachey, N.S.2
Richards, M.J.3
Buchan, B.4
Fliesler, S.J.5
|