-
2
-
-
0023253263
-
Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
-
(1987)
Am. J. Med. Genet.
, vol.26
, pp. 45-57
-
-
Curry, C.J.1
Carey, J.C.2
Holland, J.S.3
Chopra, D.4
Fineman, R.5
Golabi, M.6
Sherman, S.7
Pagon, R.A.8
Allanson, J.9
Shulman, S.10
Barr, M.11
McGravey, V.12
Dabiri, C.13
Schimke, N.14
Ives, E.15
Hall, B.16
-
3
-
-
0002642986
-
Smith-Lemli-Opitz syndrome
-
Birth Defects Encyclopedia. M. Buyse, editor. Blackwell Scientific, Dover, MA
-
(1990)
, pp. 1570-1572
-
-
Pober, B.1
-
8
-
-
0031812755
-
Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
-
(1998)
J. Med. Genet.
, vol.35
, pp. 558-565
-
-
Ryan, A.K.1
Bartlett, K.2
Clayton, P.3
Eaton, S.4
Mills, L.5
Donnai, D.6
Winter, R.M.7
Burn, J.8
-
12
-
-
0028896702
-
Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome
-
(1995)
J. Lipid Res.
, vol.36
, pp. 89-95
-
-
Tint, G.S.1
Seller, M.2
Hughes-Benzie, R.3
Batta, A.K.4
Shefer, S.5
Genest, D.6
Irons, M.7
Elias, E.8
Salen, G.9
-
15
-
-
0028884255
-
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 1779-1785
-
-
Shefer, S.1
Salen, G.2
Batta, A.K.3
Honda, A.4
Tint, G.S.5
Irons, M.6
Elias, E.R.7
Chen, T.C.8
Holick, M.F.9
-
16
-
-
0032493196
-
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 8181-8186
-
-
Fitzky, B.U.1
Witsch-Baumgartner, M.2
Erdel, M.3
Lee, J.N.4
Paik, Y.K.5
Glossmann, H.6
Utermann, G.7
Moebius, F.F.8
-
17
-
-
0032231459
-
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 55-62
-
-
Wassif, C.A.1
Maslen, C.2
Kachilele-Linjewile, S.3
Lin, D.4
Linck, L.M.5
Connor, W.E.6
Steiner, R.D.7
Porter, F.D.8
-
18
-
-
0032231706
-
Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 329-338
-
-
Waterham, H.R.1
Wijburg, F.A.2
Hennekam, R.C.3
Vreken, P.4
Poll-The, B.T.5
Dorland, L.6
Duran, M.7
Jira, P.E.8
Smeitink, J.A.9
Wevers, R.A.10
Wanders, R.J.11
-
21
-
-
15844386540
-
Hedgehog patterning activity: Role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain
-
(1996)
Cell
, vol.86
, pp. 21-34
-
-
Porter, J.A.1
Ekker, S.C.2
Park, W.J.3
Von Kessler, D.P.4
Young, K.E.5
Chen, C.H.6
Ma, Y.7
Woods, A.S.8
Cotter, R.J.9
Koonin, E.V.10
Beachy, P.A.11
-
24
-
-
0032969402
-
Oxidized derivatives of 7-dehydrocholesterol induce growth retardation in cultured rat embryos: A model for antenatal growth retardation in the Smith-Lemli-Opitz syndrome
-
(1999)
J. Lipid Res.
, vol.40
, pp. 456-463
-
-
Gaoua, W.1
Chevy, F.2
Roux, C.3
Wolf, C.4
-
35
-
-
0016381262
-
The intestinal absorption of dietary cholesterol by hypercholesterolemic (type II) and normocholesterolemic humans
-
(1974)
J. Clin. Invest.
, vol.53
, pp. 1062-1070
-
-
Connor, W.E.1
Lin, D.S.2
-
36
-
-
0019175526
-
The long term effects of dietary cholesterol upon the plasma lipids, lipoproteins, cholesterol absorption and the sterol balance in man: The demonstration of feedback inhibition of cholesterol biosynthesis and increased bile acid excretion
-
(1980)
J. Lipid Res.
, vol.21
, pp. 1042-1052
-
-
Lin, D.S.1
Connor, W.E.2
-
39
-
-
0032814083
-
Bile acid synthesis in the Smith-Lemli-Opitz syndrome: Effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver
-
(1999)
J. Lipid Res.
, vol.40
, pp. 1520-1528
-
-
Honda, A.1
Salen, G.2
Shefer, S.3
Batta, A.K.4
Honda, M.5
Xu, G.6
Tint, G.S.7
Matsuzaki, Y.8
Shoda, J.9
Tanaka, N.10
-
51
-
-
0018591720
-
Changes in cholesterol metabolism with dietary cholesterol in children with familial hypercholesterolaemia
-
(1979)
Clin. Sci.
, vol.56
, pp. 377-380
-
-
Martin, G.M.1
Nestel, P.2
-
56
-
-
0020317366
-
Cholesterol excretion studies in familial hypercholesterolemic children and their normolipidemic siblings
-
(1982)
Am. J. Clin. Nutr.
, vol.35
, pp. 1360-1367
-
-
Zavoral, J.H.1
Laine, D.C.2
Bale, L.K.3
Wellik, D.L.4
Ellefson, R.D.5
Kuba, K.6
Krivit, W.7
Kottke, B.A.8
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