-
1
-
-
0029146619
-
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
-
G.S. Tint, G. Salen, A.K. Batta, S. Shefer, M. Irons, E.R. Elias, D.N. Abuelo, V.P. Johnson, M. Lambert, and R. Lutz Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome J. Pediatr. 127 1995 82 87
-
(1995)
J. Pediatr.
, vol.127
, pp. 82-87
-
-
Tint, G.S.1
Salen, G.2
Batta, A.K.3
Shefer, S.4
Irons, M.5
Elias, E.R.6
Abuelo, D.N.7
Johnson, V.P.8
Lambert, M.9
Lutz, R.10
-
2
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
M. Irons, E.R. Elias, G. Salen, G.S. Tint, and A.K. Batta Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome Lancet 341 1993 1414
-
(1993)
Lancet
, vol.341
, pp. 1414
-
-
Irons, M.1
Elias, E.R.2
Salen, G.3
Tint, G.S.4
Batta, A.K.5
-
3
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
G.S. Tint, M. Irons, E.R. Elias, A.K. Batta, R. Frieden, T.S. Chen, and G. Salen Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome N. Engl. J. Med. 330 1994 107 113
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 107-113
-
-
Tint, G.S.1
Irons, M.2
Elias, E.R.3
Batta, A.K.4
Frieden, R.5
Chen, T.S.6
Salen, G.7
-
4
-
-
0030796030
-
Inductive interactions direct early regionalization of the mouse forebrain
-
K. Shimamura, and J.L.R. Rubenstein Inductive interactions direct early regionalization of the mouse forebrain Development 124 1997 2709 2718
-
(1997)
Development
, vol.124
, pp. 2709-2718
-
-
Shimamura, K.1
Rubenstein, J.L.R.2
-
5
-
-
0027756145
-
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
-
Y. Echelard, D.J. Epstein, B. St-Jacques, L. Shen, J. Mohler, J.A. McMahon, and A.P. McMahon Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity Cell 75 1993 1417 1430
-
(1993)
Cell
, vol.75
, pp. 1417-1430
-
-
Echelard, Y.1
Epstein, D.J.2
St-Jacques, B.3
Shen, L.4
Mohler, J.5
McMahon, J.A.6
McMahon, A.P.7
-
6
-
-
0029844192
-
Cholesterol modification of hedgehog signaling proteins in animal development
-
J.A. Porter, K.E. Young, and P.A. Beachy Cholesterol modification of hedgehog signaling proteins in animal development Science 274 1996 255 259
-
(1996)
Science
, vol.274
, pp. 255-259
-
-
Porter, J.A.1
Young, K.E.2
Beachy, P.A.3
-
7
-
-
0031456505
-
Fatty streak formation occurs in human fetal aortas and is greatly enhanced by maternal hypercholesterolemia. Intimal accumulation of LDL and its oxidation precede monocyte recruitment into early atherosclerotic lesions
-
C. Napoli, F.P. D'Armiento, F.P. Mancini, A. Postiglione, J.L. Wiztum, G. Palumbo, and W. Palinski Fatty streak formation occurs in human fetal aortas and is greatly enhanced by maternal hypercholesterolemia. Intimal accumulation of LDL and its oxidation precede monocyte recruitment into early atherosclerotic lesions J. Clin. Invest. 100 1997 2680 2690
-
(1997)
J. Clin. Invest.
, vol.100
, pp. 2680-2690
-
-
Napoli, C.1
D'Armiento, F.P.2
Mancini, F.P.3
Postiglione, A.4
Wiztum, J.L.5
Palumbo, G.6
Palinski, W.7
-
8
-
-
0034947788
-
The effect of maternal hypercholesterolemia on fetal sterol metabolism in the Golden Syrian hamster
-
J.A. McConihay, P.S. Horn, and L.A. Woollett The effect of maternal hypercholesterolemia on fetal sterol metabolism in the Golden Syrian hamster J. Lipid Res. 42 2001 1111 1119
-
(2001)
J. Lipid Res.
, vol.42
, pp. 1111-1119
-
-
McConihay, J.A.1
Horn, P.S.2
Woollett, L.A.3
-
9
-
-
0031946343
-
Transport of maternal LDL and HDL to the fetal membranes and placenta of the Golden Syrian hamster is mediated by receptor-dependent and receptor-independent processes
-
K.L. Wyne, and L.A. Woollett Transport of maternal LDL and HDL to the fetal membranes and placenta of the Golden Syrian hamster is mediated by receptor-dependent and receptor-independent processes J. Lipid Res. 39 1998 518 530
-
(1998)
J. Lipid Res.
, vol.39
, pp. 518-530
-
-
Wyne, K.L.1
Woollett, L.A.2
-
10
-
-
0025318323
-
Development, morphology, and function of the yolk-sac placenta of laboratory rodents
-
W.P. Jollie Development, morphology, and function of the yolk-sac placenta of laboratory rodents Teratology 41 1990 361 381
-
(1990)
Teratology
, vol.41
, pp. 361-381
-
-
Jollie, W.P.1
-
11
-
-
0023266221
-
Identity of cells containing apolipoprotein B messenger RNA, in 6- to 12-week postfertilization human embryos
-
B. Hopkins, A.L. Brice, P.N. Schofield, F.E. Baralle, and C.F. Graham Identity of cells containing apolipoprotein B messenger RNA, in 6- to 12-week postfertilization human embryos Development 100 1987 83 93
-
(1987)
Development
, vol.100
, pp. 83-93
-
-
Hopkins, B.1
Brice, A.L.2
Schofield, P.N.3
Baralle, F.E.4
Graham, C.F.5
-
13
-
-
0021893011
-
Synthesis of apolipoproteins, alphafoetoprotein, albumin, and transferrin by the human foetal yolk sack and other foetal organs
-
W.-K. Shi, B. Hopkins, S. Thompson, J.K. Heath, B.M. Luke, and C.F. Graham Synthesis of apolipoproteins, alphafoetoprotein, albumin, and transferrin by the human foetal yolk sack and other foetal organs J. Embryol. Exp. Morphol. 85 1985 191 206
-
(1985)
J. Embryol. Exp. Morphol.
, vol.85
, pp. 191-206
-
-
Shi, W.-K.1
Hopkins, B.2
Thompson, S.3
Heath, J.K.4
Luke, B.M.5
Graham, C.F.6
-
14
-
-
0025776568
-
Production of 13 plasma proteins by human testicular yolk sac tumor transplanted into nude mice
-
S. Nishi, T. Nishita, and K. Ohkawa Production of 13 plasma proteins by human testicular yolk sac tumor transplanted into nude mice Tumor Biol. 12 1991 184 188
-
(1991)
Tumor Biol.
, vol.12
, pp. 184-188
-
-
Nishi, S.1
Nishita, T.2
Ohkawa, K.3
-
15
-
-
0030043057
-
The pattern of apolipoprotein B100 containing lipoprotein subclasses produced by the isolated visceral rat yolk sac depends on developmental stage and fatty acid availability
-
D. Plonné, A. Stacke, K.U. Weber, U. Endisch, and R. Dargel The pattern of apolipoprotein B100 containing lipoprotein subclasses produced by the isolated visceral rat yolk sac depends on developmental stage and fatty acid availability Biochim. Biophys. Acta 1299 1996 54 66
-
(1996)
Biochim. Biophys. Acta
, vol.1299
, pp. 54-66
-
-
Plonné, D.1
Stacke, A.2
Weber, K.U.3
Endisch, U.4
Dargel, R.5
-
16
-
-
0029933263
-
A novel function for apolipoprotein B: Lipoprotein synthesis in the yolk sac is critical for maternal-fetal lipid transport in mice
-
R.V. Farese Jr., S. Cases, S.L. Ruland, H.J. Kayden, J.S. Wong, S.G. Young, and R.L. Hamilton A novel function for apolipoprotein B: lipoprotein synthesis in the yolk sac is critical for maternal-fetal lipid transport in mice J. Lipid Res. 37 1996 347 360
-
(1996)
J. Lipid Res.
, vol.37
, pp. 347-360
-
-
Farese Jr., R.V.1
Cases, S.2
Ruland, S.L.3
Kayden, H.J.4
Wong, J.S.5
Young, S.G.6
Hamilton, R.L.7
-
17
-
-
0032555195
-
Knockout of the abetalipoproteinemia gene in mice: Reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes
-
M. Raabe, L.M. Flynn, C.H. Zlot, J.S. Wong, M.M. Veniant, R.L. Hamilton, and S.G. Young Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes Proc. Natl. Acad. Sci. U. S. A. 95 1998 8686 8691
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 8686-8691
-
-
Raabe, M.1
Flynn, L.M.2
Zlot, C.H.3
Wong, J.S.4
Veniant, M.M.5
Hamilton, R.L.6
Young, S.G.7
-
18
-
-
0026645698
-
The visceral yolk sac-an important site of synthesis and secretion of apolipoprotein B containing lipoproteins in the feto-placental unit of the rat
-
D. Plonné, L. Winkler, H. Franke, and R. Dargel The visceral yolk sac-an important site of synthesis and secretion of apolipoprotein B containing lipoproteins in the feto-placental unit of the rat Biochim. Biophys. Acta 1127 1992 174 185
-
(1992)
Biochim. Biophys. Acta
, vol.1127
, pp. 174-185
-
-
Plonné, D.1
Winkler, L.2
Franke, H.3
Dargel, R.4
-
19
-
-
0026578720
-
Synthesis, secretion and immunoelectron microscopic demonstration of apolipoprotein B-containing lipoprotein particles in the visceral rat yolk sac
-
H. Franke, D. Plonné, L. Winkler, and R. Dargel Synthesis, secretion and immunoelectron microscopic demonstration of apolipoprotein B-containing lipoprotein particles in the visceral rat yolk sac Histochemistry 97 1992 283 292
-
(1992)
Histochemistry
, vol.97
, pp. 283-292
-
-
Franke, H.1
Plonné, D.2
Winkler, L.3
Dargel, R.4
-
20
-
-
0023870107
-
Interaction of dietary cholesterol and triglycerides in the regulation of hepatic low density lipoprotein transport in the hamster
-
D.K. Spady, and J.M. Dietschy Interaction of dietary cholesterol and triglycerides in the regulation of hepatic low density lipoprotein transport in the hamster J. Clin. Invest. 81 1988 300 309
-
(1988)
J. Clin. Invest.
, vol.81
, pp. 300-309
-
-
Spady, D.K.1
Dietschy, J.M.2
-
21
-
-
0027305130
-
Regulation of plasma LDL-cholesterol levels by dietary cholesterol and fatty acids
-
D.K. Spady, L.A. Woollett, and J.M. Dietschy Regulation of plasma LDL-cholesterol levels by dietary cholesterol and fatty acids Annu. Rev. Nutr. 13 1993 355 381
-
(1993)
Annu. Rev. Nutr.
, vol.13
, pp. 355-381
-
-
Spady, D.K.1
Woollett, L.A.2
Dietschy, J.M.3
-
22
-
-
0028157731
-
Reevaluation and application of the dual-isotope plasma ratio method for the measurement of intestinal cholesterol absorption in the hamster
-
S.D. Turley, M.W. Herndon, and J.M. Dietschy Reevaluation and application of the dual-isotope plasma ratio method for the measurement of intestinal cholesterol absorption in the hamster J. Lipid Res. 35 1994 328 339
-
(1994)
J. Lipid Res.
, vol.35
, pp. 328-339
-
-
Turley, S.D.1
Herndon, M.W.2
Dietschy, J.M.3
-
23
-
-
0028307656
-
Identification of apolipoprotein B-100 low density lipoproteins, apolipoprotein B-48 remnants, and apolipoprotein E-rich high density lipoproteins in the mouse
-
H.V. deSilva, J. Mas-Oliva, J.M. Taylor, and R.W. Mahley Identification of apolipoprotein B-100 low density lipoproteins, apolipoprotein B-48 remnants, and apolipoprotein E-rich high density lipoproteins in the mouse J. Lipid Res. 35 1994 1297 1310
-
(1994)
J. Lipid Res.
, vol.35
, pp. 1297-1310
-
-
Desilva, H.V.1
Mas-Oliva, J.2
Taylor, J.M.3
Mahley, R.W.4
-
24
-
-
0031852451
-
Kinetic characteristics and regulation of HDL cholesteryl ester and apoprotein transport in the apo AI-/- mouse
-
D.K. Spady, L.A. Woollett, R.S. Meidell, and H.H. Hobbs Kinetic characteristics and regulation of HDL cholesteryl ester and apoprotein transport in the apo AI-/- mouse J. Lipid Res. 39 1998 1482 1492
-
(1998)
J. Lipid Res.
, vol.39
, pp. 1482-1492
-
-
Spady, D.K.1
Woollett, L.A.2
Meidell, R.S.3
Hobbs, H.H.4
-
25
-
-
0028901471
-
Quantitative and qualitative characterization of apolipoprotein B containing lipoproteins produced by the visceral rat yolk sac in two different in vitro systems: Organ culture and isolated epithelial cells in suspension culture
-
D. Plonné, H. Heller, U. Kahlert, and R. Dargel Quantitative and qualitative characterization of apolipoprotein B containing lipoproteins produced by the visceral rat yolk sac in two different in vitro systems: organ culture and isolated epithelial cells in suspension culture Biochim. Biophys. Acta 1256 1995 71 80
-
(1995)
Biochim. Biophys. Acta
, vol.1256
, pp. 71-80
-
-
Plonné, D.1
Heller, H.2
Kahlert, U.3
Dargel, R.4
-
26
-
-
0029938854
-
Origin of cholesterol in the fetal Golden Syrian hamster: Contribution of de novo sterol synthesis and maternal-derived lipoprotein cholesterol
-
L.A. Woollett Origin of cholesterol in the fetal Golden Syrian hamster: contribution of de novo sterol synthesis and maternal-derived lipoprotein cholesterol J. Lipid Res. 37 1996 1246 1257
-
(1996)
J. Lipid Res.
, vol.37
, pp. 1246-1257
-
-
Woollett, L.A.1
-
27
-
-
0033621106
-
Cubilin, the endocytic receptor for intrinsic factor-vitamin B12 complex, mediates high-density lipoprotein holoparticle endocytosis
-
S.M. Hammad, S. Stefansson, W.O. Twal, C.J. Drake, P. Fleming, A. Remaley, H.B. Brewer Jr., and W.S. Argraves Cubilin, the endocytic receptor for intrinsic factor-vitamin B12 complex, mediates high-density lipoprotein holoparticle endocytosis Proc. Natl. Acad. Sci. U. S. A. 96 1999 10158 10163
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 10158-10163
-
-
Hammad, S.M.1
Stefansson, S.2
Twal, W.O.3
Drake, C.J.4
Fleming, P.5
Remaley, A.6
Brewer Jr., H.B.7
Argraves, W.S.8
-
28
-
-
0033056072
-
The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein
-
R. Kozyraki, J. Fyfe, M. Kristiansen, C. Gerdes, C. Jacobsen, S. Cui, E.I. Christensen, M. Aminoff, A. de la Chapelle, R. Krahe, P.J. Verroust, and S.K. Moestrup The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein Nat. Med. 5 1999 656 661
-
(1999)
Nat. Med.
, vol.5
, pp. 656-661
-
-
Kozyraki, R.1
Fyfe, J.2
Kristiansen, M.3
Gerdes, C.4
Jacobsen, C.5
Cui, S.6
Christensen, E.I.7
Aminoff, M.8
De La Chapelle, A.9
Krahe, R.10
Verroust, P.J.11
Moestrup, S.K.12
-
29
-
-
0028324029
-
Organ distribution in rats of two members of the low-density lipoprotein receptor gene family, gp330 and LRP/2MR, and the receptor-associated protein (RAP)
-
G. Zheng, D.R. Bachinsky, I. Stamenkovic, D.K. Strickland, D. Brown, G. Andres, and R.T. McCluskey Organ distribution in rats of two members of the low-density lipoprotein receptor gene family, gp330 and LRP/2MR, and the receptor-associated protein (RAP) J. Histochem. Cytochem. 42 1994 531 542
-
(1994)
J. Histochem. Cytochem.
, vol.42
, pp. 531-542
-
-
Zheng, G.1
Bachinsky, D.R.2
Stamenkovic, I.3
Strickland, D.K.4
Brown, D.5
Andres, G.6
McCluskey, R.T.7
-
30
-
-
0027733696
-
Immunocytochemical and biochemical characterization of the Heymann nephritis antigenic complex in rat L2 yolk sac cells
-
M. Lundstrom, R.A. Orlando, M.S. Saedi, L. Woodward, H. Kurihara, and M.G. Farquhar Immunocytochemical and biochemical characterization of the Heymann nephritis antigenic complex in rat L2 yolk sac cells Am. J. Pathol. 143 1993 1423 1435
-
(1993)
Am. J. Pathol.
, vol.143
, pp. 1423-1435
-
-
Lundstrom, M.1
Orlando, R.A.2
Saedi, M.S.3
Woodward, L.4
Kurihara, H.5
Farquhar, M.G.6
-
31
-
-
0031897629
-
Temporal and spatial pattern of expression of the HDL receptor SR-BI during murine embryogenesis
-
A.K. Hatzopoulos, A. Rigotti, R.D. Rosenberg, and M. Krieger Temporal and spatial pattern of expression of the HDL receptor SR-BI during murine embryogenesis J. Lipid Res. 39 1998 495 508
-
(1998)
J. Lipid Res.
, vol.39
, pp. 495-508
-
-
Hatzopoulos, A.K.1
Rigotti, A.2
Rosenberg, R.D.3
Krieger, M.4
-
32
-
-
0027330901
-
Lack of apoA-I is not associated with increased susceptibility to atherosclerosis in mice
-
H. Li, R.L. Reddick, and N. Maeda Lack of apoA-I is not associated with increased susceptibility to atherosclerosis in mice Arterioscler. Thromb. 13 1993 1814 1821
-
(1993)
Arterioscler. Thromb.
, vol.13
, pp. 1814-1821
-
-
Li, H.1
Reddick, R.L.2
Maeda, N.3
-
33
-
-
0034068935
-
Maternal high density lipoproteins affect fetal mass and extra-embryonic fetal tissue sterol metabolism in the mouse
-
J.A. McConihay, A.M. Honkomp, N.A. Granholm, and L.A. Woollett Maternal high density lipoproteins affect fetal mass and extra-embryonic fetal tissue sterol metabolism in the mouse J. Lipid Res. 41 2000 424 432
-
(2000)
J. Lipid Res.
, vol.41
, pp. 424-432
-
-
McConihay, J.A.1
Honkomp, A.M.2
Granholm, N.A.3
Woollett, L.A.4
-
34
-
-
3142662216
-
Rates of receptor-dependent and -independent low density lipoprotein uptake in the hamster.
-
D.K. Spady, D.W. Bilheimer, and J.M. Dietschy Rates of receptor-dependent and -independent low density lipoprotein uptake in the hamster. Proc. Natl. Acad. Sci. U. S. A. 80 1983 3499 3503
-
(1983)
Proc. Natl. Acad. Sci. U. S. A.
, vol.80
, pp. 3499-3503
-
-
Spady, D.K.1
Bilheimer, D.W.2
Dietschy, J.M.3
-
35
-
-
0024272157
-
Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus. Sources for tissue cholesterol during fetal development.
-
W.M. Belknap, and J.M. Dietschy Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus. Sources for tissue cholesterol during fetal development. J. Clin. Invest. 82 1988 2077 2085
-
(1988)
J. Clin. Invest.
, vol.82
, pp. 2077-2085
-
-
Belknap, W.M.1
Dietschy, J.M.2
-
37
-
-
0242322476
-
The transport of cholesterol across a placental cell monolayer: Implications for net transport of sterol from the maternal to fetal circulation
-
K.E. Schmid, W.S. Davidson, L. Myatt, and L.A. Woollett The transport of cholesterol across a placental cell monolayer: implications for net transport of sterol from the maternal to fetal circulation J. Lipid Res. 44 2003 1909 1918
-
(2003)
J. Lipid Res.
, vol.44
, pp. 1909-1918
-
-
Schmid, K.E.1
Davidson, W.S.2
Myatt, L.3
Woollett, L.A.4
-
38
-
-
0036739322
-
Fatty acids differentially regulate hepatic cholesteryl ester formation and incorporation into lipoproteins in the liver of the mouse
-
C. Xie, L.A. Woollett, S.D. Turley, and J.M. Dietschy Fatty acids differentially regulate hepatic cholesteryl ester formation and incorporation into lipoproteins in the liver of the mouse J. Lipid Res. 43 2002 1508 1519
-
(2002)
J. Lipid Res.
, vol.43
, pp. 1508-1519
-
-
Xie, C.1
Woollett, L.A.2
Turley, S.D.3
Dietschy, J.M.4
-
39
-
-
0027160448
-
Regulation of apolipoprotein B production and secretion in response to the change of intracellular cholesteryl ester contents in rabbit hepatocytes
-
M. Tanaka, H. Jingami, H. Otani, M. Cho, Y. Ueda, H. Arai, Y. Nagano, T. Doi, M. Yokode, and T. Kita Regulation of apolipoprotein B production and secretion in response to the change of intracellular cholesteryl ester contents in rabbit hepatocytes J. Biol. Chem. 268 1993 12713 12718
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 12713-12718
-
-
Tanaka, M.1
Jingami, H.2
Otani, H.3
Cho, M.4
Ueda, Y.5
Arai, H.6
Nagano, Y.7
Doi, T.8
Yokode, M.9
Kita, T.10
-
40
-
-
0028889942
-
ACAT inhibitors decrease secretion of cholesteryl esters and apolipoprotein B by perfused livers of African green monkeys
-
T.P. Carr, R.I.J. Hamilton, and L.L. Rudel ACAT inhibitors decrease secretion of cholesteryl esters and apolipoprotein B by perfused livers of African green monkeys J. Lipid Res. 36 1995 25 36
-
(1995)
J. Lipid Res.
, vol.36
, pp. 25-36
-
-
Carr, T.P.1
Hamilton, R.I.J.2
Rudel, L.L.3
-
41
-
-
0034564537
-
Inborn errors of cholesterol biosynthesis
-
R.I. Kelley Inborn errors of cholesterol biosynthesis Adv. Pediatr. 47 2000 1 52
-
(2000)
Adv. Pediatr.
, vol.47
, pp. 1-52
-
-
Kelley, R.I.1
-
42
-
-
0037387601
-
Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes
-
G.E. Herman Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes Hum. Mol. Genet. 12 2003 R75 R88
-
(2003)
Hum. Mol. Genet.
, vol.12
-
-
Herman, G.E.1
-
43
-
-
0034672715
-
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
-
H.R. Waterham, and R.J.A. Wanders Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome Biochim. Biophys. Acta 1529 2000 340 356
-
(2000)
Biochim. Biophys. Acta
, vol.1529
, pp. 340-356
-
-
Waterham, H.R.1
Wanders, R.J.A.2
-
44
-
-
0028314608
-
RSH/SLO ("Smith-Lemli-Opitz") Syndrome: Historical, genetic, and developmental considerations
-
J.M. Opitz RSH/SLO ("Smith-Lemli-Opitz") Syndrome: historical, genetic, and developmental considerations Am. J. Med. Genet. 50 1994 344 346
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 344-346
-
-
Opitz, J.M.1
-
45
-
-
0033808659
-
RSH/Smith-Lemli-Opitz syndrome: A multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis
-
F.D. Porter RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis Mol. Genet. Metab. 71 2000 163 174
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 163-174
-
-
Porter, F.D.1
-
46
-
-
0034134128
-
Mutational spectrum in the delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
-
M. Witsch-Baumgartner, B.U. Fitzky, M. Ogorelkova, H.G. Kraft, F.F. Moebius, H. Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G.F. Hoffmann, P. Clayton, R.I. Kelley, and G. Utermann Mutational spectrum in the delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome Am. J. Hum. Genet. 66 2000 402 412
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 402-412
-
-
Witsch-Baumgartner, M.1
Fitzky, B.U.2
Ogorelkova, M.3
Kraft, H.G.4
Moebius, F.F.5
Glossmann, H.6
Seedorf, U.7
Gillessen-Kaesbach, G.8
Hoffmann, G.F.9
Clayton, P.10
Kelley, R.I.11
Utermann, G.12
-
47
-
-
0034645527
-
Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis
-
J. Loffler, A. Trojovsky, B. Casati, P.M. Kroisel, and G. Utermann Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis Am. J. Mol. Genet. 95 2000 174 177
-
(2000)
Am. J. Mol. Genet.
, vol.95
, pp. 174-177
-
-
Loffler, J.1
Trojovsky, A.2
Casati, B.3
Kroisel, P.M.4
Utermann, G.5
-
48
-
-
0032493196
-
Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
-
B.U. Fitzky, M. Witsch-Baumgartner, M. Erdel, J. No Lee, Y.-K. Paik, H. Glossmann, G. Utermann, and F.F. Moebius Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome Proc. Natl. Acad. Sci. U. S. A. 95 1998 8181 8196
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 8181-8196
-
-
Fitzky, B.U.1
Witsch-Baumgartner, M.2
Erdel, M.3
No Lee, J.4
Paik, Y.-K.5
Glossmann, H.6
Utermann, G.7
Moebius, F.F.8
-
49
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
-
C. Chiang, Y. Litingtung, E. Lee, K.E. Young, J.L. Corden, H. Wesphal, and P.A. Beachy Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function Nature 383 1996 407 413
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
Litingtung, Y.2
Lee, E.3
Young, K.E.4
Corden, J.L.5
Wesphal, H.6
Beachy, P.A.7
-
51
-
-
0034107360
-
Genetics of ventral forebrain development and holoprosencephaly
-
M. Muenke, and P.A. Beachy Genetics of ventral forebrain development and holoprosencephaly Curr. Opin. Genet. Dev. 10 2000 262 269
-
(2000)
Curr. Opin. Genet. Dev.
, vol.10
, pp. 262-269
-
-
Muenke, M.1
Beachy, P.A.2
-
52
-
-
0344678385
-
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly
-
S. Odent, T. Attie-Bitach, M. Blayau, M. Mathieu, J. Auge, A.L. Delezoide, J.Y. Le Gall, B. Le Marec, A. Munnich, V. David, and M. Vekemans Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly Hum. Mol. Genet. 8 1999 1683 1689
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1683-1689
-
-
Odent, S.1
Attie-Bitach, T.2
Blayau, M.3
Mathieu, M.4
Auge, J.5
Delezoide, A.L.6
Le Gall, J.Y.7
Le Marec, B.8
Munnich, A.9
David, V.10
Vekemans, M.11
-
53
-
-
0030294408
-
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
-
E. Roessler, E. Belloni, K. Gaudenz, P. Jay, P. Berta, S.W. Scherer, L.C. Tsui, and M. Muenke Mutations in the human Sonic Hedgehog gene cause holoprosencephaly Nat. Genet. 14 1996 357 360
-
(1996)
Nat. Genet.
, vol.14
, pp. 357-360
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
Jay, P.4
Berta, P.5
Scherer, S.W.6
Tsui, L.C.7
Muenke, M.8
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