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Volumn 25, Issue 4, 2005, Pages 318-321

Smith-Lemli-Opitz syndrome;Syndrome de Smith-Lemli-Opitz

Author keywords

Cholesterol; Pathology examination of the fetus; Polymalformation syndrome; SLO; Syndactyly

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG;

EID: 27944469631     PISSN: 02426498     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0242-6498(05)80136-1     Document Type: Article
Times cited : (3)

References (10)
  • 1
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    • A newly recognized syndrome of multiple congenital anomalies
    • Smith DW, Lemli L, Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatrics 1964; 64: 210-7.
    • (1964) J Pediatrics , vol.64 , pp. 210-217
    • Smith, D.W.1    Lemli, L.2    Opitz, J.M.3
  • 3
    • 8944258115 scopus 로고    scopus 로고
    • Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the acrodysgenital syndromes
    • Cormier-Daire V, Wolf C, Munnich A, Le Merrer M, Nivelon A, Bonneau D et al. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the acrodysgenital syndromes. Eur J Pediatr 1996; 155: 656-9.
    • (1996) Eur J Pediatr , vol.155 , pp. 656-659
    • Cormier-Daire, V.1    Wolf, C.2    Munnich, A.3    Le Merrer, M.4    Nivelon, A.5    Bonneau, D.6
  • 5
    • 0023253263 scopus 로고
    • Smith-Lemli-Opitz syndrome type II: Multiple congenital anomalies with male pseudohermaphoditism and frequent early lethality
    • Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M et al. Smith-Lemli-Opitz syndrome type II: multiple congenital anomalies with male pseudohermaphoditism and frequent early lethality. Am J Med Genet 1987; 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
  • 6
    • 0942279749 scopus 로고    scopus 로고
    • Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases
    • Goldenberg A, Wolf C, Chevy F, Benachi A, Dumez Y, Munnich A et al. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: A retrospective survey of 30 cases. Am J Med Genet 2004; 124A: 423-26.
    • (2004) Am J Med Genet , vol.124 , pp. 423-426
    • Goldenberg, A.1    Wolf, C.2    Chevy, F.3    Benachi, A.4    Dumez, Y.5    Munnich, A.6
  • 7
    • 12244253747 scopus 로고    scopus 로고
    • Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype: À propos de 45 cas
    • Goldenberg A, Chevy F, Bernard C, Wolf C, Cormier-Daire V. Circonstances cliniques du diagnostic du syndrome de Smith-Lemli-Opitz et tentatives de corrélation phénotype-génotype: à propos de 45 cas. Arch Pediatr 2003; 10: 4-10.
    • (2003) Arch Pediatr , vol.10 , pp. 4-10
    • Goldenberg, A.1    Chevy, F.2    Bernard, C.3    Wolf, C.4    Cormier-Daire, V.5
  • 8
    • 0036734985 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient
    • Loeffler J, Utermann G, Witsch-baumgartner M. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. Prenat Diagn 2002; 22: 827-30.
    • (2002) Prenat Diagn , vol.22 , pp. 827-830
    • Loeffler, J.1    Utermann, G.2    Witsch-baumgartner, M.3
  • 9
    • 0034097540 scopus 로고    scopus 로고
    • The Smith-Lemli-Opitz syndrome
    • Kelley RI, Hennekam R. The Smith-Lemli-Opitz syndrome. J Med Genet 2000; 37: 321-335.
    • (2000) J Med Genet , vol.37 , pp. 321-335
    • Kelley, R.I.1    Hennekam, R.2
  • 10
    • 0035869221 scopus 로고    scopus 로고
    • Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
    • Wassif ÇA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF et al. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome. Hum Mol Genet 2001; 10: 555-64.
    • (2001) Hum Mol Genet , vol.10 , pp. 555-564
    • Wassif, Ç.A.1    Zhu, P.2    Kratz, L.3    Krakowiak, P.A.4    Battaile, K.P.5    Weight, F.F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.