메뉴 건너뛰기




Volumn 102, Issue 1, 2003, Pages 167-172

Maternal serum unconjugated estriol as a predictor for Smith-Lemli-Opitz syndrome and other fetal conditions

Author keywords

[No Author keywords available]

Indexed keywords

ESTRIOL; STERYL SULFATASE;

EID: 0038384014     PISSN: 00297844     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0029-7844(03)00370-3     Document Type: Article
Times cited : (46)

References (24)
  • 1
    • 0027270349 scopus 로고
    • Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
    • Irons M., Elias E.R., Salen G., Tint G.S., Batta A.K. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome. Lancet. 341:1993;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
  • 2
    • 0000727177 scopus 로고
    • 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., et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med. 330:1994;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
  • 3
    • 0028965694 scopus 로고
    • Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols
    • Abuelo D.N., Tint G.S., Kelley R., Batta A.K., Shefer S., Salen G. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols. Am J Med Genet. 56:1995;281-285.
    • (1995) Am J Med Genet , vol.56 , pp. 281-285
    • Abuelo, D.N.1    Tint, G.S.2    Kelley, R.3    Batta, A.K.4    Shefer, S.5    Salen, G.6
  • 4
    • 0031853311 scopus 로고    scopus 로고
    • Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols
    • Tint G.S., Abuelo D., Till M., Cordier M.P., Batta A.K., Shefer S., et al. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols. Prenat Diagn. 18:1998;651-658.
    • (1998) Prenat Diagn , vol.18 , pp. 651-658
    • Tint, G.S.1    Abuelo, D.2    Till, M.3    Cordier, M.P.4    Batta, A.K.5    Shefer, S.6
  • 5
    • 0033582547 scopus 로고    scopus 로고
    • Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome
    • Kratz L.E., Kelley R.I. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Am J Med Genet. 82:1999;376-381.
    • (1999) Am J Med Genet , vol.82 , pp. 376-381
    • Kratz, L.E.1    Kelley, R.I.2
  • 7
    • 0031812755 scopus 로고    scopus 로고
    • Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype
    • Ryan A.K., Bartlett K., Clayton P., Eaton S., Mills L., Donnai D., et al. Smith-Lemli-Opitz syndrome A variable clinical and biochemical phenotype . J Med Genet. 35:1998;558-565.
    • (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
  • 8
    • 0000139419 scopus 로고
    • A newly recognized syndrome of multiple congenital anomalies
    • Smith D.W., Lemli L., Opitz J.M. A newly recognized syndrome of multiple congenital anomalies. J Pediatr. 64:1964;210-217.
    • (1964) J Pediatr , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 9
    • 0023253263 scopus 로고
    • Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
    • Curry C.J., Carey J.C., Holland J.S., Chopra D., Fineman R., Golabi M., et al. Smith-Lemli-Opitz syndrome-type II Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality . Am J Med Genet. 26:1987;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
  • 10
    • 0031044525 scopus 로고    scopus 로고
    • Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism
    • Cunniff C., Kratz L.E., Moser A., Natowicz M.R., Kelley R.I. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet. 68:1997;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
  • 11
    • 0031592431 scopus 로고    scopus 로고
    • A new face for an old syndrome
    • Kelley R.I. A new face for an old syndrome. Am J Med Genet. 68:1997;251-256.
    • (1997) Am J Med Genet , vol.68 , pp. 251-256
    • Kelley, R.I.1
  • 12
    • 0032840521 scopus 로고    scopus 로고
    • RSH (so-called Smith-Lemli-Opitz) syndrome
    • Opitz J.M. RSH (so-called Smith-Lemli-Opitz) syndrome. Curr Opin Pediatr. 11:1999;353-362.
    • (1999) Curr Opin Pediatr , vol.11 , pp. 353-362
    • Opitz, J.M.1
  • 13
    • 0033064938 scopus 로고    scopus 로고
    • Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus
    • Shackleton C.H., Roitman E., Kratz L.E., Kelley R.I. Equine type estrogens produced by a pregnant woman carrying a Smith-Lemli-Opitz syndrome fetus. J Clin Endocrinol Metab. 84:1999;1157-1159.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1157-1159
    • Shackleton, C.H.1    Roitman, E.2    Kratz, L.E.3    Kelley, R.I.4
  • 14
    • 0031772356 scopus 로고    scopus 로고
    • A typical case of Smith-Lemli-Opitz syndrome: Implications for diagnosis
    • Angle B., Tint G.S., Yacoub O.A., Clark A.L. A typical case of Smith-Lemli-Opitz syndrome Implications for diagnosis . Am J Med Genet. 80:1998;322-326.
    • (1998) Am J Med Genet , vol.80 , pp. 322-326
    • Angle, B.1    Tint, G.S.2    Yacoub, O.A.3    Clark, A.L.4
  • 15
    • 0000071176 scopus 로고
    • Abnormal maternal serum marker pattern associated with Smith-Lemli-Opitz (SLO) syndrome
    • Blitzer M.G., Kelley R.I., Schwartz M.F. Abnormal maternal serum marker pattern associated with Smith-Lemli-Opitz (SLO) syndrome. Am J Hum Genet. 55:1994;A277.
    • (1994) Am J Hum Genet , vol.55 , pp. 277
    • Blitzer, M.G.1    Kelley, R.I.2    Schwartz, M.F.3
  • 16
    • 0028945267 scopus 로고
    • Very low maternal serum unconjugated estriol andprenatal diagnosis of steroid sulfatasedeficiency
    • David M., Isreal N., Merksamer R., Bar-Nizan N., Borochowitz Z., Bar-el H., et al. Very low maternal serum unconjugated estriol andprenatal diagnosis of steroid sulfatasedeficiency. Fetal Diagn Ther. 10:1995;76-79.
    • (1995) Fetal Diagn Ther , vol.10 , pp. 76-79
    • David, M.1    Isreal, N.2    Merksamer, R.3    Bar-Nizan, N.4    Borochowitz, Z.5    Bar-El, H.6
  • 17
    • 0028787522 scopus 로고
    • Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening
    • Schleifer R.A., Bradley L.A., Richards D.S., Ponting N.R. Pregnancy outcome for women with very low levels of maternal serum unconjugated estriol on second-trimester screening. Am J Ostet Gynecol. 173:1995;1152-1156.
    • (1995) Am J Ostet Gynecol , vol.173 , pp. 1152-1156
    • Schleifer, R.A.1    Bradley, L.A.2    Richards, D.S.3    Ponting, N.R.4
  • 18
    • 0030985036 scopus 로고    scopus 로고
    • Undetectable maternal serum unconjugated estriol levels in the second trimester: Risk of perinatal complications associated with placental sulfatase deficiency
    • Bradley L.A., Canick J.A., Palomaki G.E., Haddow J.E. Undetectable maternal serum unconjugated estriol levels in the second trimester Risk of perinatal complications associated with placental sulfatase deficiency . Am J Obstet Gynecol. 176:1997;531-535.
    • (1997) Am J Obstet Gynecol , vol.176 , pp. 531-535
    • Bradley, L.A.1    Canick, J.A.2    Palomaki, G.E.3    Haddow, J.E.4
  • 19
    • 0036227784 scopus 로고    scopus 로고
    • Assigning risk for Smith-Lemli-Optiz syndrome as part of 2nd trimester screening for Down's syndrome
    • Palomaki G.E., Bradley L.A., Knight G.J., Craig W.Y., Haddow J.E. Assigning risk for Smith-Lemli-Optiz syndrome as part of 2nd trimester screening for Down's syndrome. J Med Screen. 9:2002;43-44.
    • (2002) J Med Screen , vol.9 , pp. 43-44
    • Palomaki, G.E.1    Bradley, L.A.2    Knight, G.J.3    Craig, W.Y.4    Haddow, J.E.5
  • 20
    • 0034097540 scopus 로고    scopus 로고
    • The Smith-Lemli-Optiz syndrome
    • Kelley R.I., Hennekam R.C. The Smith-Lemli-Optiz syndrome. J Med Genet. 37:2000;321-335.
    • (2000) J Med Genet , vol.37 , pp. 321-335
    • Kelley, R.I.1    Hennekam, R.C.2
  • 22
    • 0028206613 scopus 로고
    • Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome
    • Bartles I., Caesar J., Sancken U. Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. Prenat Diagn. 14:1994;227-229.
    • (1994) Prenat Diagn , vol.14 , pp. 227-229
    • Bartles, I.1    Caesar, J.2    Sancken, U.3
  • 23
    • 0031850052 scopus 로고    scopus 로고
    • Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: A urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes
    • Glass I.A., Lam R.C., Chang T., Roitman E., Shapiro L.J., Shackleton C.H. Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy A urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes . Prenat Diagn. 18:1998;789-800.
    • (1998) Prenat Diagn , vol.18 , pp. 789-800
    • Glass, I.A.1    Lam, R.C.2    Chang, T.3    Roitman, E.4    Shapiro, L.J.5    Shackleton, C.H.6
  • 24
    • 0028114846 scopus 로고
    • A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects
    • Paige D.G., Emilion G.G., Bouloux P.M., Hatper J.I. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol. 131:1994;662-669.
    • (1994) Br J Dermatol , vol.131 , pp. 662-669
    • Paige, D.G.1    Emilion, G.G.2    Bouloux, P.M.3    Hatper, J.I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.