-
1
-
-
0028965694
-
Prenatal diagnosis of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid
-
Abuelo, D., Tint, G.S., Kelley, R., Batta, A.K., Shefer, S., Salen, G. (1995). Prenatal diagnosis of the cholesterol biosynthetic defect in Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid, Am. J. Med. Genet., 56, 281-285.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 281-285
-
-
Abuelo, D.1
Tint, G.S.2
Kelley, R.3
Batta, A.K.4
Shefer, S.5
Salen, G.6
-
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., Abuelo, D., Shefer, S., 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
Abuelo, D.3
Shefer, S.4
Salen, G.5
-
3
-
-
16144368562
-
Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly
-
Belloni, E., Muenke, M., Roessler, E., Traverso, G., Siegel-Bartlet, J., Frumkin, A., Mitchell, H. F., Donis-Keller, H., Helms, C., Hing, A.V., Heng, H.H.Q., Koop, B., Martindale, D., Rommens, J.M., Tsui, L.-C., Scherer, S.W. (1996). Identification of sonic hedgehog as a candidate gene responsible for holoprosencephaly, Nature Genetics, 14, 353-366.
-
(1996)
Nature Genetics
, vol.14
, pp. 353-366
-
-
Belloni, E.1
Muenke, M.2
Roessler, E.3
Traverso, G.4
Siegel-Bartlet, J.5
Frumkin, A.6
Mitchell, H.F.7
Donis-Keller, H.8
Helms, C.9
Hing, A.V.10
Heng, H.H.Q.11
Koop, B.12
Martindale, D.13
Rommens, J.M.14
Tsui, L.-C.15
Scherer, S.W.16
-
4
-
-
0345390669
-
-
New York: McGraw-Hill
-
Bliss, C.I. (1967). Statistics in Biology, Vol. 1, New York: McGraw-Hill, 199-203.
-
(1967)
Statistics in Biology
, vol.1
, pp. 199-203
-
-
Bliss, C.I.1
-
5
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function
-
Chiang, C., Ying, L., Lee, E., Young, K.E., Corden, J.L., Westphal, H., Beachy, P.A. (1996). Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function, Nature, 83, 407-413.
-
(1996)
Nature
, vol.83
, pp. 407-413
-
-
Chiang, C.1
Ying, L.2
Lee, E.3
Young, K.E.4
Corden, J.L.5
Westphal, H.6
Beachy, P.A.7
-
6
-
-
0029744511
-
Desmosterolosis: A new inborn error of cholesterol biosynthesis
-
Clayton, P., Mills, K., Keeling, J., FitzPatrick, D. (1996). Desmosterolosis: a new inborn error of cholesterol biosynthesis, Lancet, 348, 404.
-
(1996)
Lancet
, vol.348
, pp. 404
-
-
Clayton, P.1
Mills, K.2
Keeling, J.3
Fitzpatrick, D.4
-
7
-
-
0023253263
-
Smith-Lemli-Opitz syndrome - Type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
-
Curry, C.J.R., Carey, J.C., Holland, J.S., Chopra, D., Fineman, R., Golabi, M., Sherman, S., Pagon, R.A., Allanson, J., Shulman, B., Barr, M., McGravey, V., Dabiri, C., Schmike, N., Ives, E., Hall, B.D. (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.R.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, B.10
Barr, M.11
McGravey, V.12
Dabiri, C.13
Schmike, N.14
Ives, E.15
Hall, B.D.16
-
8
-
-
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
-
9
-
-
2642665788
-
-
Berkely: University of California Press
-
Dixon, W.J. (Ed.) (1992). BMDP Statistical Software Manual, Vol. 1, Berkely: University of California Press, 585.
-
(1992)
BMDP Statistical Software Manual
, vol.1
, pp. 585
-
-
Dixon, W.J.1
-
10
-
-
84920318582
-
Prenatal detection of recurrent SLOS type 2
-
Gelman-Kohan, Z., Nisani, R., Chemke, J., Appelman, Z., Rappaport, S., Hegesh, E. (1990). Prenatal detection of recurrent SLOS type 2, Am. J. Hum. Genet., 47, A57.
-
(1990)
Am. J. Hum. Genet.
, vol.47
-
-
Gelman-Kohan, Z.1
Nisani, R.2
Chemke, J.3
Appelman, Z.4
Rappaport, S.5
Hegesh, E.6
-
11
-
-
2642664815
-
Letter to the editor: Prenatal diagnosis of SLO syndrome
-
Gelman-Kohan, Z., Chemke, J. (1995). Letter to the editor: prenatal diagnosis of SLO syndrome, Am. J. Med. Genet., 56, 288.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 288
-
-
Gelman-Kohan, Z.1
Chemke, J.2
-
12
-
-
0029744754
-
Clinical and biochemical screening for Smith-Lemli-Opitz syndrome
-
Guzzetta, V., De Fabiani, E., Galli, G., Colombo, C., Corso, C., Lecora, M., Parenti, G., Strisciuglio, P., Andria, G., The Italian SLOS Collaborative Group (1996). Clinical and biochemical screening for Smith-Lemli-Opitz syndrome, Acta Paediatr., 85, 937-942.
-
(1996)
Acta Paediatr.
, vol.85
, pp. 937-942
-
-
Guzzetta, V.1
De Fabiani, E.2
Galli, G.3
Colombo, C.4
Corso, C.5
Lecora, M.6
Parenti, G.7
Strisciuglio, P.8
Andria, G.9
-
13
-
-
0029098207
-
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes
-
Honda, A., Tint, G.S., Salen, G., Batta, A.K., Chen, T.S., Shefer, S. (1995). Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes, J. Lipid Res., 36, 1565-1601.
-
(1995)
J. Lipid Res.
, vol.36
, pp. 1565-1601
-
-
Honda, A.1
Tint, G.S.2
Salen, G.3
Batta, A.K.4
Chen, T.S.5
Shefer, S.6
-
14
-
-
0030454107
-
7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: A new method for the diagnosis of the Smith-Lemli-Opitz syndrome
-
7-reductase activity in cultured skin fibroblasts utilizing ergosterol as a substrate: a new method for the diagnosis of the Smith-Lemli-Opitz syndrome, J. Lipid Res., 37, 2433-2438.
-
(1996)
J. Lipid Res.
, vol.37
, pp. 2433-2438
-
-
Honda, M.1
Tint, G.S.2
Honda, A.3
Batta, A.K.4
Chen, T.S.5
Shefer, S.6
Salen, G.7
-
15
-
-
0031052774
-
Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: Diagnosis of a biochemically atypical case
-
Honda, A., Tint, G.S., Salen, G., Kelley, R.I., Honda, M., Batta, A.K., Chen, T.S., Shefer, S. (1997). Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case, Am. J. Med. Genet., 68, 282-287.
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 282-287
-
-
Honda, A.1
Tint, G.S.2
Salen, G.3
Kelley, R.I.4
Honda, M.5
Batta, A.K.6
Chen, T.S.7
Shefer, S.8
-
16
-
-
0027270349
-
Defective cholesterol synthesis in Smith-Lemli-Opitz syndrome
-
Irons, M., Elias, E.R., Salen, G., Tint, G.S., Batta, A.K. (1993). Defective cholesterol synthesis in Smith-Lemli-Opitz syndrome, 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
-
17
-
-
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
-
18
-
-
0030458446
-
Holoprosencephaly in RSH/ Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function of sonic hedgehog
-
Kelley, R.I., Roessler, E., Hennekam, R.C.M., Feldman, G.L., Kosaki, K., Jones, M.C., Palumbos, J.C., Muenke, M. (1996). Holoprosencephaly in RSH/ Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of sonic hedgehog, Am. J. Med. Genet., 66, 478-484.
-
(1996)
Am. J. Med. Genet.
, vol.66
, pp. 478-484
-
-
Kelley, R.I.1
Roessler, E.2
Hennekam, R.C.M.3
Feldman, G.L.4
Kosaki, K.5
Jones, M.C.6
Palumbos, J.C.7
Muenke, M.8
-
19
-
-
0029022844
-
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
-
Kelley, R.I. (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
-
20
-
-
0024509922
-
Plasma membranes contain half the phospholipid and 90 per cent of the cholesterol and sphingomyelin in cultured human fibroblasts
-
Lange, Y., Swaisgood, M.H., Ramos, B.V., Steck, T.L. (1989). Plasma membranes contain half the phospholipid and 90 per cent of the cholesterol and sphingomyelin in cultured human fibroblasts, J. Biol. Chem., 264, 3786-3793.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 3786-3793
-
-
Lange, Y.1
Swaisgood, M.H.2
Ramos, B.V.3
Steck, T.L.4
-
21
-
-
0014297192
-
Micrognathia, polydactyly, and cleft palate
-
Lowry, R.B., Miller, J.R., MacLean, J.R. (1968). Micrognathia, polydactyly, and cleft palate, J. Pediatr., 72, 959-961.
-
(1968)
J. Pediatr.
, vol.72
, pp. 959-961
-
-
Lowry, R.B.1
Miller, J.R.2
MacLean, J.R.3
-
22
-
-
0018963505
-
Borderline intelligence in the Smith-Lemli-Opitz syndrome
-
Lowry, R.B., Yong, S.-L. (1980). Borderline intelligence in the Smith-Lemli-Opitz syndrome, Am. J. Med. Genet., 1980, 137-143.
-
(1980)
Am. J. Med. Genet.
, vol.1980
, pp. 137-143
-
-
Lowry, R.B.1
Yong, S.-L.2
-
23
-
-
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
-
24
-
-
0028239008
-
Diagnosis of Smith-Lemli-Opitz syndrome. Letter to the Editor
-
McGaughran, J., Donnai, D., Clatyon, P., Mills, K. (1994). Diagnosis of Smith-Lemli-Opitz syndrome. Letter to the Editor, N. Engl. J. Med., 330, 1685-1686.
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 1685-1686
-
-
McGaughran, J.1
Donnai, D.2
Clatyon, P.3
Mills, K.4
-
25
-
-
0028952005
-
Prenatal diagnosis of Smith-Lemli-Opitz syndrome
-
McGaughran, J.M., Clayton, P.T., Mills, S., 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, S.3
Rimmer, S.4
Moore, L.5
Donnai, D.6
-
26
-
-
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
-
27
-
-
0007357495
-
Holoprosencephaly as a manifestation in Smith-Lemli-Opitz syndrome
-
Muenke, M., Hennekam, R.C.M., Kelley, R.I. (1994). Holoprosencephaly as a manifestation in Smith-Lemli-Opitz syndrome, Am. J. Hum. Genet., 55, A35.
-
(1994)
Am. J. Hum. Genet.
, vol.55
-
-
Muenke, M.1
Hennekam, R.C.M.2
Kelley, R.I.3
-
28
-
-
0000072448
-
Isolation and characterization of myelin
-
Morell, P. (Ed.). New York: Plenum Press
-
Norton, W.T., Cammer, W. (1984). Isolation and characterization of myelin. In: Morell, P. (Ed.). Myelin, New York: Plenum Press, 147-195.
-
(1984)
Myelin
, pp. 147-195
-
-
Norton, W.T.1
Cammer, W.2
-
29
-
-
0019133661
-
Mutations affecting segment number and placement in Drosophila
-
Nüsslein-Volhard, C., Wieschaus, E. (1980). Mutations affecting segment number and placement in Drosophila, Nature, 287, 795-801.
-
(1980)
Nature
, vol.287
, pp. 795-801
-
-
Nüsslein-Volhard, C.1
Wieschaus, E.2
-
30
-
-
0002642986
-
Smith-Lemli-Opitz syndrome
-
Buyse, M.L. (Ed.). Cambridge, MA: Blackwell Scientific Publications, Inc.
-
Pober, B. (1990). Smith-Lemli-Opitz syndrome. In: Buyse, M.L. (Ed.). Birth Defects Encyclopedia, Cambridge, MA: Blackwell Scientific Publications, Inc., 1570-1572.
-
(1990)
Birth Defects Encyclopedia
, pp. 1570-1572
-
-
Pober, B.1
-
31
-
-
15844386540
-
Hedgehog patterning activity: Role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain
-
Porter, J.A., Ekker, S.C., Park, W.-J., von Kessler, D.P., Young, K.E., Chen, C.-H., Ma, Y., Woods, A.S., Cotter, R.J., Koonin, E.V., Beachy, P.A. (1996a). Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain, Cell, 86, 21-34.
-
(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
-
32
-
-
0029844192
-
Cholesterol modification of hedgehog signaling proteins in animal development
-
Porter, J.A., Young, K.E., Beachy, P.A. (1996b). Cholesterol modification of hedgehog signaling 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
-
33
-
-
0030294408
-
Mutations in the human sonic hedgehog gene causes holoprosencephaly
-
Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S.W., Tsui, L.-C., Muenke, M. (1996). Mutations in the human sonic hedgehog gene causes holoprosencephaly, Nature Genetics, 14, 357-360.
-
(1996)
Nature Genetics
, 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
-
34
-
-
0028916481
-
Smith-Lemli-Opitz syndrome: Prenatal diagnosis by quantification of cholesterol precursors
-
Rossiter, J.P., Hofman, K.J., Kelley, R.I. (1995). Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors, 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
-
35
-
-
0001534522
-
Action teratogene du triparanol chez l'animal
-
Roux, C. (1964). Action teratogene du triparanol chez l'animal, Arch. Franc. Pediat., 21, 451-464.
-
(1964)
Arch. Franc. Pediat.
, vol.21
, pp. 451-464
-
-
Roux, C.1
-
36
-
-
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.7
Holick, M.F.8
Chen, T.-C.9
-
37
-
-
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
-
38
-
-
0029640902
-
Letter to the editor: Prenatal diagnosis of Smith-Lemli-Opitz syndrome
-
Stewart, F.J., Nevin, N.C., Dornan, J.C. (1995). Letter to the editor: prenatal diagnosis of Smith-Lemli-Opitz syndrome, Am. J. Med. Genet., 56, 286-287.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 286-287
-
-
Stewart, F.J.1
Nevin, N.C.2
Dornan, J.C.3
-
39
-
-
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
-
40
-
-
0029146619
-
Correlation of severity and outcome correlate 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., Abuelo, D.N., Johnson, V.P., Lambert, M., Lutz, R., Schanen, C., Morris, C.A., Hoganson, G., Hughes-Benzie, R. (1995a). Correlation of severity and outcome correlate with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome, J. Pediatrics, 127, 82-87.
-
(1995)
J. Pediatrics
, vol.127
, pp. 82-87
-
-
Tint, G.S.1
Salen, G.2
Batta, A.K.3
Shefer, S.4
Irons, M.5
Elias, E.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
-
41
-
-
0028896702
-
Markedly increased concentrations 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. (1995b). Markedly increased concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome, J. Lipid Res., 36, 89-95.
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(1995)
J. Lipid Res.
, vol.36
, pp. 89-95
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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
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