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365 related items for PubMed ID: 16451140

  • 1. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
    Jezela-Stanek A, Małunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M.
    Clin Genet; 2006 Jan; 69(1):77-85. PubMed ID: 16451140
    [Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
    Kratz LE, Kelley RI.
    Am J Med Genet; 1999 Feb 19; 82(5):376-81. PubMed ID: 10069707
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  • 3. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
    Waye JS, Eng B, Nowaczyk MJ.
    Prenat Diagn; 2007 Jul 19; 27(7):638-40. PubMed ID: 17441222
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  • 4. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE.
    Am J Med Genet; 2000 Dec 11; 95(4):396-8. PubMed ID: 11186897
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  • 5. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
    Loeffler J, Utermann G, Witsch-Baumgartner M.
    Prenat Diagn; 2002 Sep 11; 22(9):827-30. PubMed ID: 12224080
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  • 6. 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.
    Pediatr Res; 1996 May 11; 39(5):816-9. PubMed ID: 8726234
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  • 7. Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi.
    Linck LM, Hayflick SJ, Lin DS, Battaile KP, Ginat S, Burlingame T, Gibson KM, Honda M, Honda A, Salen G, Tint GS, Connor WE, Steiner RD.
    Prenat Diagn; 2000 Mar 11; 20(3):238-40. PubMed ID: 10719329
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  • 8. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
    Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD.
    Mol Genet Metab; 2004 Mar 11; 83(1-2):175-83. PubMed ID: 15464432
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  • 9. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Mar 11; 71(1-2):154-62. PubMed ID: 11001806
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  • 15. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis.
    Angle B, Tint GS, Yacoub OA, Clark AL.
    Am J Med Genet; 1998 Dec 04; 80(4):322-6. PubMed ID: 9856557
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