-
1
-
-
28544438004
-
Prenatal diagnosis of the Smith-Lemli-Opitz syndrome by detection of the cholesterol biosynthetic defect in amniotic fluid (Abstract). Appendix II, Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: Summary of an NICHD conference
-
Abuelo, D.N., Canick, J.A., Kelley, R.I., Irons, M., Tint, G.S., Salen, G., Batta, A.K. (1994). Prenatal diagnosis of the Smith-Lemli-Opitz syndrome by detection of the cholesterol biosynthetic defect in amniotic fluid (Abstract). Appendix II, Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference, Am. J. Med. Genet., 50, 333.
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 333
-
-
Abuelo, D.N.1
Canick, J.A.2
Kelley, R.I.3
Irons, M.4
Tint, G.S.5
Salen, G.6
Batta, A.K.7
-
2
-
-
0028911755
-
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol) in patients with Smith-Lemli-Opitz syndrome
-
Batta, A.K., Tint, G.S., Shefer, S., Abuelo, D., Salen, G. (1995). Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3β-ol) in patients with Smith-Lemli-Opitz syndrome, J. Lipid Res., 36, 705-713.
-
(1995)
J. Lipid Res.
, vol.36
, pp. 705-713
-
-
Batta, A.K.1
Tint, G.S.2
Shefer, S.3
Abuelo, D.4
Salen, G.5
-
3
-
-
0024272157
-
Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus
-
Belknap, W.M., Dietschy, J.M. (1988). Sterol synthesis and low density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus, J. Clin. Invest., 82, 2077-2085.
-
(1988)
J. Clin. Invest.
, vol.82
, pp. 2077-2085
-
-
Belknap, W.M.1
Dietschy, J.M.2
-
4
-
-
0020378547
-
Cholesterol synthesis in human fetal tissues
-
Carr, B.R., Simpson, E.R. (1982). Cholesterol synthesis in human fetal tissues, J. Clin. Endocrinol. Metab., 55, 447-452.
-
(1982)
J. Clin. Endocrinol. Metab.
, vol.55
, pp. 447-452
-
-
Carr, B.R.1
Simpson, E.R.2
-
5
-
-
0029119994
-
Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid
-
Dallaire, L., Mitchell, G., Giguere, R., Lefebvre, F., Melancon, S.B., Lambert, M. (1995). Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid, Prenat. Diagn., 15, 855-858.
-
(1995)
Prenat. Diagn.
, vol.15
, pp. 855-858
-
-
Dallaire, L.1
Mitchell, G.2
Giguere, R.3
Lefebvre, F.4
Melancon, S.B.5
Lambert, M.6
-
6
-
-
70449158340
-
A simple method for the isolation and purification of total lipides from animal tissues
-
Folch, J., Lees, M., Stanley, G.H.S. (1957). A simple method for the isolation and purification of total lipides from animal tissues, J. Biol. Chem., 226, 497-509.
-
(1957)
J. Biol. Chem.
, vol.226
, pp. 497-509
-
-
Folch, J.1
Lees, M.2
Stanley, G.H.S.3
-
7
-
-
0029068707
-
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemh-Opitz syndrome
-
Hyett, J.A., Clayton, P.T., Moscoso, G., Nicolaides, K.H. (1995). Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemh-Opitz syndrome, Am. J. Med. Genet., 58, 374-376.
-
(1995)
Am. J. Med. Genet.
, vol.58
, pp. 374-376
-
-
Hyett, J.A.1
Clayton, P.T.2
Moscoso, G.3
Nicolaides, K.H.4
-
8
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
Irons, M., Elias, E.R., Salen, G., Tint, G.S., Batta, A.K. (1993). Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome (Letter), Lancet, 341, 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
-
9
-
-
0028010896
-
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II
-
Johnson, J.A., Aughton, D.J., Comstock, C.H., von Oeyen, P.T., Higgins, J.V., Schulz, R. (1994). Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II, Am. J. Med. Genet., 49, 240-243.
-
(1994)
Am. J. Med. Genet.
, vol.49
, pp. 240-243
-
-
Johnson, J.A.1
Aughton, D.J.2
Comstock, C.H.3
Von Oeyen, P.T.4
Higgins, J.V.5
Schulz, R.6
-
10
-
-
0018963505
-
Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome
-
Lowry, R.B., Young, S.L. (1980). Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome, Am. J. Med. Genet., 5, 137-143.
-
(1980)
Am. J. Med. Genet.
, vol.5
, pp. 137-143
-
-
Lowry, R.B.1
Young, S.L.2
-
11
-
-
0029670239
-
7-reductase activity in cultured human fibroblasts: A method for the diagnosis of Smith-Lemli-Opitz syndrome
-
7-reductase activity in cultured human fibroblasts: a method for the diagnosis of Smith-Lemli-Opitz syndrome, J. Inher. Metab. Dis., 19, 59-64.
-
(1996)
J. Inher. Metab. Dis.
, vol.19
, pp. 59-64
-
-
Lund, E.1
Starck, L.2
Venizelos, N.3
-
12
-
-
0028239008
-
Diagnosis of Smith-Lemli-Opitz syndrome
-
McGaughran, J., Donnai, D., Clayton, P., Mills, K. (1994) Diagnosis of Smith-Lemli-Opitz syndrome (Letter), N. Engl. J. Med., 330, 1685-1686.
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 1685-1686
-
-
McGaughran, J.1
Donnai, D.2
Clayton, P.3
Mills, K.4
-
13
-
-
0029936714
-
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
-
Mills, K., Mandel, H., Montemagno, R., Soothill, P., Gershoni-Baruch, R., Clayton, P. (1996). First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency), Pediatr. Res., 39, 816-819.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 816-819
-
-
Mills, K.1
Mandel, H.2
Montemagno, R.3
Soothill, P.4
Gershoni-Baruch, R.5
Clayton, P.6
-
14
-
-
0028904646
-
Fetal and maternal lipoprotein metabolism in human pregnancy
-
Neary, R.H., Kilby, M.D., Kumpatula, P., Game, F.L., Bhatnagar, D., Durrington, P.N., O'Brien, P.M.S. (1995). Fetal and maternal lipoprotein metabolism in human pregnancy, Clin. Sci., 88, 311-318.
-
(1995)
Clin. Sci.
, vol.88
, pp. 311-318
-
-
Neary, R.H.1
Kilby, M.D.2
Kumpatula, P.3
Game, F.L.4
Bhatnagar, D.5
Durrington, P.N.6
O'Brien, P.M.S.7
-
15
-
-
0029844192
-
Cholesterol modification of Hedgehog signalling proteins in animal development
-
Porter, J.A., Young, K.E., Beachy, P.A. (1996). Cholesterol modification of Hedgehog signalling proteins in animal development, Science, 274, 255-259.
-
(1996)
Science
, vol.274
, pp. 255-259
-
-
Porter, J.A.1
Young, K.E.2
Beachy, P.A.3
-
16
-
-
0028916481
-
Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid
-
Rossiter, J.P., Hofman, K.J., Kelley, R.I. (1995). Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid, Am. J. Med. Genet., 56, 272-275.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 272-275
-
-
Rossiter, J.P.1
Hofman, K.J.2
Kelley, R.I.3
-
17
-
-
0028884255
-
7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes
-
7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes, J. Clin. Invest., 96, 1779-1785.
-
(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
-
18
-
-
0000139419
-
A newly recognized syndrome of multiple congenital anomalies
-
Smith, D.W., Lemli, L., Opitz, J.M. (1964). A newly recognized syndrome of multiple congenital anomalies, J. Pediatr., 64, 210-217.
-
(1964)
J. Pediatr.
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
19
-
-
0029640902
-
Prenatal diagnosis of Smith-Lemli-Opitz syndrome
-
Stewart, F.J., Dornan, J.C. (1995). Prenatal diagnosis of Smith-Lemli-Opitz syndrome (Letter), Am. J. Med. Genet., 56, 286-287.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 286-287
-
-
Stewart, F.J.1
Dornan, J.C.2
-
20
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
Tint, G.S., Irons, M., Elias, E.R., Batta, A.K., Frieden, R., Chen, T.S., Salen, G. (1994). Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome, N. Engl. J. Med., 330, 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
-
21
-
-
0028896702
-
Markedly increased tissue concentration of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome
-
Tint, G.S., Seller, M., Hughes-Benzie, R., Batta, A.K., Shefer, S., Genest, D., Irons, M., Elias, E., Salen, G. (1995a). Markedly increased tissue concentration of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome, J. Lipid Res., 36, 89-95.
-
(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
-
22
-
-
0029146619
-
Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome
-
Tint, G.S., Salen, G., Batta, A.K., Shefer, S., Irons, M., Elias, E.R., Abuelo, D.N., Johnson, V.P., Lambert, M., Lutz, R., Schanen, C., Morris, C.A., Hoganson, G., Hughes-Benzie, R. (1995b). Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome, J. Pediatr., 127, 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
Schanen, C.11
Morris, C.A.12
Hoganson, G.13
Hughes-Benzie, R.14
|