-
1
-
-
0028965694
-
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols
-
Abuelo DN, Tint GS, Kelley RI, Batta AK, Shefer S, Salen G. 1995. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet 56:281-285.
-
(1995)
Am J Med Genet
, vol.56
, pp. 281-285
-
-
Abuelo, D.N.1
Tint, G.S.2
Kelley, R.I.3
Batta, A.K.4
Shefer, S.5
Salen, G.6
-
2
-
-
0031876967
-
Variant Smith-Lemli-Opitz syndrome with atypical sterol metabolism
-
Anderson AJ, Stephan MJ, Walker WO, Newman RJ, Kelley RI. 1998. Variant Smith-Lemli-Opitz syndrome with atypical sterol metabolism. Am J Med Genet 78:413-418.
-
(1998)
Am J Med Genet
, vol.78
, pp. 413-418
-
-
Anderson, A.J.1
Stephan, M.J.2
Walker, W.O.3
Newman, R.J.4
Kelley, R.I.5
-
3
-
-
0024272157
-
Sterol synthesis and low-density lipoprotein clearance in vivo in the pregnant rat, placenta, and fetus
-
Bellknap WM, Dietschy JM. 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
-
-
Bellknap, W.M.1
Dietschy, J.M.2
-
4
-
-
0023635630
-
Female external genitalia and Müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome
-
Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML. 1987. Female external genitalia and Müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28:723-731.
-
(1987)
Am J Med Genet
, vol.28
, pp. 723-731
-
-
Bialer, M.G.1
Penchaszadeh, V.B.2
Kahn, E.3
Libes, R.4
Krigsman, G.5
Lesser, M.L.6
-
5
-
-
0033590680
-
Levels of unconjugates estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz syndrome
-
Bradley LA, Palomaki GE, Knight, GJ, Haddow JE, Opitz JM, Irons M, Kelley RI, Tint GS. 1999. Levels of unconjugates estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz syndrome. Am J Med Genet 82:355-358.
-
(1999)
Am J Med Genet
, vol.82
, pp. 355-358
-
-
Bradley, L.A.1
Palomaki, G.E.2
Knight, G.J.3
Haddow, J.E.4
Opitz, J.M.5
Irons, M.6
Kelley, R.I.7
Tint, G.S.8
-
7
-
-
0020378547
-
Cholesterol synthesis in human fetal tissues
-
Carr BR, Simpson ER. 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
-
8
-
-
0031044525
-
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
-
Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. 1997. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269.
-
(1997)
Am J Med Genet
, vol.68
, pp. 263-269
-
-
Cunniff, C.1
Kratz, L.E.2
Moser, A.3
Natowicz, M.R.4
Kelley, R.I.5
-
9
-
-
0023253263
-
Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
-
Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr M, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD. 1987. Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
-
(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.D.16
-
10
-
-
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, Melançon SB, Lambert M. 1995. Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid. Prenatal Diagn 15:855-858.
-
(1995)
Prenatal Diagn
, vol.15
, pp. 855-858
-
-
Dallaire, L.1
Mitchell, G.2
Giguere, R.3
Lefebvre, F.4
Melançon, S.B.5
Lambert, M.6
-
11
-
-
0029068707
-
Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome
-
Hyett JA, Clayton PT, Moscoso G, Nicolaides KH. 1995. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-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
-
13
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
Irons M, Elias ER, Salen G, Tint GS, Batta AK. 1993. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet [letter] 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
-
14
-
-
0029022844
-
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
-
Kelley RI. 1995. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. Clin Chim Acta 236:45-58.
-
(1995)
Clin Chim Acta
, vol.236
, pp. 45-58
-
-
Kelley, R.I.1
-
15
-
-
0028952005
-
Prenatal diagnosis of Smith-Lemli-Opitz syndrome
-
McGaughran JM, Clayton PT, Mills KA, Rimmer S, Moore L, Donnai D. 1995. Prenatal diagnosis of Smith-Lemli-Opitz syndrome. Am J Med Genet 56:269-271.
-
(1995)
Am J Med Genet
, vol.56
, pp. 269-271
-
-
McGaughran, J.M.1
Clayton, P.T.2
Mills, K.A.3
Rimmer, S.4
Moore, L.5
Donnai, D.6
-
16
-
-
0025313376
-
Smith-Lemli-Opitz syndrome II: A disorder of the fetal adrenals?
-
McKeever PA, Young ID. 1990. Smith-Lemli-Opitz syndrome II: a disorder of the fetal adrenals? J Med Genet 27:465-466.
-
(1990)
J Med Genet
, vol.27
, pp. 465-466
-
-
McKeever, P.A.1
Young, I.D.2
-
17
-
-
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 PT. 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.T.6
-
18
-
-
37049182173
-
Inverse relation between low-density lipoprotein-cholesterol and dehydroisoandrosterone sulfate in human fetal plasma
-
Parker CR Jr, Simpson ER, Bilheimer DW, Leveno K, Carr BR, MacDonald PC. 1980. Inverse relation between low-density lipoprotein-cholesterol and dehydroisoandrosterone sulfate in human fetal plasma. Science 208:512-514.
-
(1980)
Science
, vol.208
, pp. 512-514
-
-
Parker C.R., Jr.1
Simpson, E.R.2
Bilheimer, D.W.3
Leveno, K.4
Carr, B.R.5
MacDonald, P.C.6
-
19
-
-
0028916481
-
Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid
-
Rossiter JP, Hofman KJ, Kelley RI. 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
-
20
-
-
0030897051
-
First-trimester diagnosis of Smith-Lemli-Opitz syndrome
-
Sharp P, Haan E, Fletcher JM, Khong TY, Carey WF. 1997. First-trimester diagnosis of Smith-Lemli-Opitz syndrome. Prenatal Diagn 17:355-361.
-
(1997)
Prenatal Diagn
, vol.17
, pp. 355-361
-
-
Sharp, P.1
Haan, E.2
Fletcher, J.M.3
Khong, T.Y.4
Carey, W.F.5
-
21
-
-
0000139419
-
A newly recognized syndrome of multiple congenital anomalies
-
Smith DW, Lemli L, Opitz JM. 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
-
22
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, 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
-
23
-
-
0029775625
-
Defective forebrain development in mice lacking gp330/megalin
-
Willnow TE, Hilpert J, Armstrong SA, Rohlmann A, Hammer RE, Burns DK, Herz J. 1996. Defective forebrain development in mice lacking gp330/megalin. Proc Natl Acad Sci USA 93:8460-8464.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 8460-8464
-
-
Willnow, T.E.1
Hilpert, J.2
Armstrong, S.A.3
Rohlmann, A.4
Hammer, R.E.5
Burns, D.K.6
Herz, J.7
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