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405 related items for PubMed ID: 10719329

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 83(1-2):175-83. PubMed ID: 15464432
    [Abstract] [Full Text] [Related]

  • 3. 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; 39(5):816-9. PubMed ID: 8726234
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 5. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Dec 11; 71(1-2):154-62. PubMed ID: 11001806
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
    Loeffler J, Utermann G, Witsch-Baumgartner M.
    Prenat Diagn; 2002 Sep 19; 22(9):827-30. PubMed ID: 12224080
    [Abstract] [Full Text] [Related]

  • 8. 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 19; 69(1):77-85. PubMed ID: 16451140
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 Jul 19; 71(1-2):163-74. PubMed ID: 11001807
    [Abstract] [Full Text] [Related]

  • 11. [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].
    Oberthür A, Heller R, Vogel M, Körber F, Rahimi G, Hoopmann M, Emmel M, Roth B, Vierzig A.
    Z Geburtshilfe Neonatol; 2009 Oct 19; 213(5):210-4. PubMed ID: 19856245
    [Abstract] [Full Text] [Related]

  • 12. 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 19; 18(7):651-8. PubMed ID: 9706645
    [Abstract] [Full Text] [Related]

  • 13. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
    Nowaczyk MJ, Irons MB.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):250-62. PubMed ID: 23059950
    [Abstract] [Full Text] [Related]

  • 14. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
    Rossiter JP, Hofman KJ, Kelley RI.
    Am J Med Genet; 1995 Apr 10; 56(3):272-5. PubMed ID: 7778588
    [Abstract] [Full Text] [Related]

  • 15. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
    Fitzky BU, Moebius FF, Asaoka H, Waage-Baudet H, Xu L, Xu G, Maeda N, Kluckman K, Hiller S, Yu H, Batta AK, Shefer S, Chen T, Salen G, Sulik K, Simoni RD, Ness GC, Glossmann H, Patel SB, Tint GS.
    J Clin Invest; 2001 Sep 10; 108(6):905-15. PubMed ID: 11560960
    [Abstract] [Full Text] [Related]

  • 16. 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 10; 75(4):325-34. PubMed ID: 12051964
    [Abstract] [Full Text] [Related]

  • 17. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.
    Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.
    J Steroid Biochem Mol Biol; 2017 May 10; 169():77-87. PubMed ID: 26976653
    [Abstract] [Full Text] [Related]

  • 18. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
    Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD.
    Hum Mutat; 2005 Jul 10; 26(1):59. PubMed ID: 15954111
    [Abstract] [Full Text] [Related]

  • 19. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb 10; 84(2):112-26. PubMed ID: 15670717
    [Abstract] [Full Text] [Related]

  • 20. [Smith-Lemli-Opitz syndrome].
    Haghiri N, Menget A, Laitier V, Fromentin C, Nocton F, Kalach N.
    Arch Pediatr; 1999 May 10; 6(5):536-9. PubMed ID: 10370810
    [Abstract] [Full Text] [Related]

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