[1]
|
Gofflot, F., Hars, G., Illien, F., Chevy, F., Wolf, C., Picard, J.J. and Roux, C. (2003) Molecular Mechanisms Underlying Limb Anomalies Associated with Cholesterol Deficiency during Gestation: Implications of Hedgehog Signalling. Human Molecular Genetics, 12, 1187-1198. http://dx.doi.org/10.1093/hmg/ddg129
|
[2]
|
Cardoso, M.L., Balreira, A., Martins, E., Nunes, L., Cabral, A., Marques, M., Lima, M., Reis, M., Marques, J.S., Medeira, A., Cordeiro, I., et al. (2005) Molecular Studies in Portuguese Patients with Smith-Lemli-Opitz Syndrome and Report of Three New Mutations in DHCR7. Molecular Genetics and Metabolism, 85, 228-235. http://dx.doi.org/10.1016/j.ymgme.2005.02.009
|
[3]
|
Kelley, R.I. and Hernan, G.E. (2001) Inborn Errors of Sterol Biosynthesis. Annual Review of Genomics and Human Genetics, 2, 299-341. http://dx.doi.org/10.1146/annurev.genom.2.1.299
|
[4]
|
Krakowiak, P.A., Wassif, C.A., Kratz, L., Cozma, D., Ková?ová, M., Harris, G., Grinberg, A., Yang, Y., Hunter, A.G.W., Tsokos, M., Kelley, R.I. and Porter, F.D. (2003) Lathosterolosis: An Inborn Error of Human and Murine Cholesterol Synthesis Due to Lathosterol 5-Desaturase Deficiency. Human Molecular Genetics, 12, 1631-1641. http://dx.doi.org/10.1093/hmg/ddg172
|
[5]
|
Chevy, F., Humbert, L. and Wolf, C. (2005) Sterol Profiling of Amniotic Fluid: A Routine Method for the Detection of Distal Cholesterol Synthesis Deficit. Prenatal Diagnosis, 25, 1000-1006. http://dx.doi.org/10.1002/pd.1254
|
[6]
|
Brunetti-Pierri, N., Corso, G., Rossi, M., Ferrari, P., Balli, F., Rivasi, F., Annunziata, I., Ballabio, A., Dello Russo, A., Andria, G. and Parenti, G. (2002) Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3-Hydroxysteroid-5-Desaturase. The American Journal of Human Genetics, 71, 952-958. http://dx.doi.org/10.1086/342668
|
[7]
|
Clayton, P.T. (1998) Disorders of Cholesterol Biosynthesis. Archives of Diseases in Childhood, 78, 185-189. http://dx.doi.org/10.1136/adc.78.2.185
|
[8]
|
Porter, F.D. (2003) Human Malformation Syndromes Due to Inborn Errors of Cholesterol Synthesis. Current Opinion in Pediatrics, 15, 607-613. http://dx.doi.org/10.1097/00008480-200312000-00011
|
[9]
|
Irons, M., Elias, E.R., Salen, G., Tint, G.S. and Batta, A. (1993) Defective Cholesterol Biosynthesis in Smith-Lemli-Opitz Syndrome. Lancet, 341, 1414. http://dx.doi.org/10.1016/0140-6736(93)90983-N
|
[10]
|
Tint, G.S., Irons, M., Elias, E.R., Batta, A.K., Frieden, R., Chen, T.S. and Salen, G. (1994) Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome. The New England Journal of Medicine, 330, 107-113. http://dx.doi.org/10.1056/NEJM199401133300205
|
[11]
|
Tint, G.S., Seller, M., Hughes-Benzie, R., Batta, A.K., Shefer, S., Genest, D., Irons, M., Elias, E. and Salen, G. (1995) Markedly Increased Tissue Concentrations of 7-Dehydrocholesterol Combined with Low Levels of Cholesterol Are Characteristic of the Smith-Lemli-Opitz Syndrome. Journal of Lipid Research, 36, 89-95.
|
[12]
|
Salen, G., Shefer, S., Batta, A.K., Tint, G.S., Xu, G., Honda, A., Irons, M. and Elias, E. (1996) Abnormal Cholesterol Biosynthesis in the Smith-Lemli-Opitz Syndrome. Journal of Lipid Research, 37, 1169-1180.
|
[13]
|
Griffiths, W.J., Wang, Y., Karu, K., Samuel, E., McDonnel, S., Hornshaw, M. and Shackleton, C. (2008) Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome. Clinical Chemistry, 54, 1317-1324. http://dx.doi.org/10.1373/clinchem.2007.100644
|
[14]
|
Amaral, C., Gallardo, E., Rodrigues, R., Pinto Leite, R., Quelhas, D., Tomaz, C. and Cardoso, M.L. (2010) Quantitative Analysis of Five Sterols in Amniotic Fluid by GC-MS: Application to the Diagnosis of Cholesterol Biosynthesis Defects. Journal of Chromatography B, 878, 2130-2136. http://dx.doi.org/10.1016/j.jchromb.2010.06.010
|
[15]
|
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. Clinical Chimica Acta, 236, 45-58. http://dx.doi.org/10.1016/0009-8981(95)06038-4
|
[16]
|
Zimmerman, P.A., Hercules, D.M. and Naylor, E.W. (1997) Direct Analysis of Filter Paper Blood Specimens for Identification of Smith-Lemli-Opitz Syndrome Using Time-of-Flight Secondary Ion Mass-Spectrometry. American Journal of Medical Genetics, 68, 300-304. http://dx.doi.org/10.1002/(SICI)1096-8628(19970131)68:3<300::AID-AJMG10>3.0.CO;2-X
|
[17]
|
Seedorf, U., Fobker, M., Voss, R., Meyer, K., Kannenberg, F., Meschede, D., et al. (1995) Smith-Lemli-Opitz Syndrome Diagnosed by Using Time-of-Flight Secondary-Ion Mass Spectrometry. Clinical Chemistry, 41, 548-552.
|
[18]
|
Johnson, D.W., ten Brink, H.J. and Jackobs, C. (2001) A Rapid Screening Procedure for Cholesteroland Dehydrocholesterol by Electrospray Ionization Tandem Mass Spectrometry. Journal of Lipid Research, 42, 1699-1705.
|
[19]
|
Rossiter, J.P., Hofman, K.J. and Kelley, R.I. (1995) Prenatal Diagnosis by Quantification of Cholesterol Precursors in Amniotic Fluid. American Journal of Medical Genetics, 56, 272-275. http://dx.doi.org/10.1002/ajmg.1320560307
|
[20]
|
Abuelo, D.N., Tint, G.S., Kelley, R., Batta, A.K., Shefer, S. and Salen, G. (1995) Prenatal Detection of the Cholesterol Biosynthetic Defect in the Smith-Lemli-Opitz Syndrome by the Analysis of Amniotic Fluid Sterols. American Journal of Medical Genetics, 56, 281-285. http://dx.doi.org/10.1002/ajmg.1320560309
|
[21]
|
Dallaire, L., Mitchell, G., Giguère, R., Lefebvre, F., Melan?on, S.B. and Lambert, M. (1995) Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome Is Possible by Measurement of 7-Dehydrocholesterol in Amniotic Fluid. Prenatal Diagnosis, 15, 855-858. http://dx.doi.org/10.1002/pd.1970150911
|
[22]
|
Chevy, F., Humbert, L. and Wolf, C. (2005) Sterol Profiling of Amniotic Fluid: A Routine Method for the Detection of Distal Cholesterol Synthesis Deficit. Prenatal Diagnosis, 25, 1000-1006. http://dx.doi.org/10.1002/pd.1254
|
[23]
|
Linck, L.M., Hayflick, S.J., Lin, D.S., Battaile, K.P., Ginat, T., Burlingame, S., Gibson, K.M., Honda, M., Honda, A., Salen, G., Tint, G.S., Connor, W.E. and Steiner, R.D. (2000) Fetal Demise with Smith-Lemli-Opitz Syndrome Confirmed by Tissue Sterol Analysis and the Absence of Measurable 7-Dehydrocholesterol Δ7-Reductase Activity in Chorionic Villi. Prenatal Diagnosis, 20, 238-240. http://dx.doi.org/10.1002/(SICI)1097-0223(200003)20:3<238::AID-PD792>3.0.CO;2-W
|
[24]
|
McGaughran, J.M., Clayton, P.T., Mills, K.A., Rimmer, S., Moore, L. and Donnai, D. (1995) Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome. American Journal of Medical Genetics, 56, 269-271. http://dx.doi.org/10.1002/ajmg.1320560306
|
[25]
|
Dallaire, L., Mitchell, G., Giguère, R., Lefebvre, F., Melan?on, S.B. and Lambert, M. (1995) Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome Is Possible by Measurement of 7-Dehydrocholesterol. Prenatal Diagnosis, 15, 855-858. http://dx.doi.org/10.1002/pd.1970150911
|
[26]
|
Abuelo, D.N., Tint, G.S., Kelley, R., Batta, A.K., Shefer, S. and Salen, G. (1995) Prenatal Detection of the Cholesterol Biosynthetic Defect in the Smith-Lemli-Opitz Syndrome by the Analysis of Amniotic Fluid Sterols. American Journal of Medical Genetics, 56, 281-285. http://dx.doi.org/10.1002/ajmg.1320560309
|
[27]
|
Tint, G.S., Abuelo, D., Till, M., Cordier, M.P., Batta, A.K., Shefer, S., Honda, A., Honda, M., Xu, G., Irons, M., Elias, E.R. and Salen, G. (1998) Fetal Smith-Lemli-Opitz Syndrome Can Be Detected Accurately and Reliably by Measuring Amniotic Fluid Dehydrocholesterols. Prenatal Diagnosis, 18, 651-658. http://dx.doi.org/10.1002/(SICI)1097-0223(199807)18:7<651::AID-PD316>3.0.CO;2-V
|
[28]
|
Sharp, P., Haan, E., Fletcher, J.M., Khong, T.Y. and Carey, W.F. (1997) First-Trimester Diagnosis of Smith-Lemli-Opitz Syndrome. Prenatal Diagnosis, 17, 355-361. http://dx.doi.org/10.1002/(SICI)1097-0223(199704)17:4<355::AID-PD78>3.0.CO;2-M
|