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Journal Abstract Search

660 related items for PubMed ID: 11001807

  • 1.
    ; . PubMed ID:
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 Dec 30; 83(1-2):175-83. PubMed ID: 15464432
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA, Krakowiak PA, Wright BS, Gewandter JS, Sterner AL, Javitt N, Yergey AL, Porter FD.
    Mol Genet Metab; 2005 Jun 30; 85(2):96-107. PubMed ID: 15896653
    [Abstract] [Full Text] [Related]

  • 6. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb 30; 84(2):112-26. PubMed ID: 15670717
    [Abstract] [Full Text] [Related]

  • 7. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
    Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.
    Am J Med Genet; 2002 Jun 15; 110(2):103-8. PubMed ID: 12116246
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 26(1):59. PubMed ID: 15954111
    [Abstract] [Full Text] [Related]

  • 9. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.
    Loeffler J, Utermann G, Witsch-Baumgartner M.
    Prenat Diagn; 2002 Sep 15; 22(9):827-30. PubMed ID: 12224080
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 75(4):325-34. PubMed ID: 12051964
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
    Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD.
    Hum Mol Genet; 2001 Mar 15; 10(6):555-64. PubMed ID: 11230174
    [Abstract] [Full Text] [Related]

  • 14. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G.
    J Med Genet; 2004 Aug 15; 41(8):577-84. PubMed ID: 15286151
    [Abstract] [Full Text] [Related]

  • 15. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
    Alkuraya FS, Picker J, Irons MB, Kimonis VE.
    Birth Defects Res A Clin Mol Teratol; 2005 Aug 15; 73(8):569-71. PubMed ID: 15965973
    [Abstract] [Full Text] [Related]

  • 16. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
    Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L.
    Mol Genet Metab; 2005 Jul 15; 85(3):228-35. PubMed ID: 15979035
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 20(3):238-40. PubMed ID: 10719329
    [Abstract] [Full Text] [Related]

  • 18. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
    Kolejáková K, Petrovic R, Futas J, Turcáni P, Durovcíková D, Chandoga J.
    Gen Physiol Biophys; 2009 Mar 15; 28(1):8-15. PubMed ID: 19390132
    [Abstract] [Full Text] [Related]

  • 19. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H, Patel SB.
    Clin Genet; 2005 Nov 15; 68(5):383-91. PubMed ID: 16207203
    [Abstract] [Full Text] [Related]

  • 20. 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]

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