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Journal Abstract Search

190 related items for PubMed ID: 10370810

  • 1. [Smith-Lemli-Opitz syndrome].
    Haghiri N, Menget A, Laitier V, Fromentin C, Nocton F, Kalach N.
    Arch Pediatr; 1999 May; 6(5):536-9. PubMed ID: 10370810
    [Abstract] [Full Text] [Related]

  • 2. 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; 20(3):238-40. PubMed ID: 10719329
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  • 3. 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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  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD.
    Mol Genet Metab; 2002 Apr 19; 75(4):325-34. PubMed ID: 12051964
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  • 6. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
    GarcíaFuentes E, icioso Recio MV, del Castillo Acedo Del Olmo E, atas Jurado MM, Arana Agüera M, López López J.
    An Esp Pediatr; 2000 Nov 19; 53(5):482-7. PubMed ID: 11141372
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  • 7. 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 Nov 19; 83(1-2):175-83. PubMed ID: 15464432
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  • 8. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
    Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI.
    Am J Med Genet; 1997 Jan 31; 68(3):263-9. PubMed ID: 9024557
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  • 9. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
    Porter FD.
    Mol Genet Metab; 2000 Jan 31; 71(1-2):163-74. PubMed ID: 11001807
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  • 11. Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
    Kelley RL, Roessler E, Hennekam RC, Feldman GL, Kosaki K, Jones MC, Palumbos JC, Muenke M.
    Am J Med Genet; 1996 Dec 30; 66(4):478-84. PubMed ID: 8989473
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  • 12. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Dec 30; 71(1-2):154-62. PubMed ID: 11001806
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  • 14. A routine method for cholesterol and 7-dehydrocholesterol analysis in dried blood spot by GC-FID to diagnose the Smith-Lemli-Opitz syndrome.
    Gelzo M, Clericuzio S, Barone R, D'Apolito O, Dello Russo A, Corso G.
    J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Oct 15; 907():154-8. PubMed ID: 22985726
    [Abstract] [Full Text] [Related]

  • 15. Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.
    Tint GS, Abuelo D, Till M, Cordier MP, Batta AK, Shefer S, Honda A, Honda M, Xu G, Irons M, Elias ER, Salen G.
    Prenat Diagn; 1998 Jul 15; 18(7):651-8. PubMed ID: 9706645
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  • 16. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
    Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA.
    Ned Tijdschr Geneeskd; 1996 Jul 13; 140(28):1463-6. PubMed ID: 8766772
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  • 19. Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts: diagnosis of a biochemically atypical case of the syndrome.
    Honda A, Tint GS, Salen G, Kelley RI, Honda M, Batta AK, Chen TS, Shefer S.
    Am J Med Genet; 1997 Jan 31; 68(3):282-7. PubMed ID: 9024560
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