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Journal Abstract Search

243 related items for PubMed ID: 12949967

  • 1. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
    Langius FA, Waterham HR, Romeijn GJ, Oostheim W, de Barse MM, Dorland L, Duran M, Beemer FA, Wanders RJ, Poll-The BT.
    Am J Med Genet A; 2003 Sep 15; 122A(1):24-9. PubMed ID: 12949967
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  • 3. 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 15; 169():77-87. PubMed ID: 26976653
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  • 5. Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
    Prasad C, Marles S, Prasad AN, Nikkel S, Longstaffe S, Peabody D, Eng B, Wright S, Waye JS, Nowaczyk MJ.
    Am J Med Genet; 2002 Feb 15; 108(1):64-8. PubMed ID: 11857552
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  • 6. DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS.
    Am J Med Genet; 2001 Apr 22; 100(2):162-3. PubMed ID: 11298379
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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 Apr 22; 83(1-2):175-83. PubMed ID: 15464432
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  • 8. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
    Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS.
    Hum Mol Genet; 2000 May 22; 9(9):1385-91. PubMed ID: 10814720
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  • 11. Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families.
    Anstey AV, Azurdia RM, Rhodes LE, Pearse AD, Bowden PE.
    Br J Dermatol; 2005 Oct 22; 153(4):774-9. PubMed ID: 16181459
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  • 14. The Smith-Lemli-Opitz syndrome and dentofacial anomalies diagnostic: Case reports and literature review.
    Rojare C, Opdenakker Y, Laborde A, Nicot R, Mention K, Ferri J.
    Int Orthod; 2019 Jun 22; 17(2):375-383. PubMed ID: 31005410
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  • 16. Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.
    Jezela-Stanek A, Ciara E, Malunowicz EM, Korniszewski L, Piekutowska-Abramczuk D, Popowska E, Krajewska-Walasek M.
    Eur J Med Genet; 2008 Jun 22; 51(2):124-40. PubMed ID: 18249054
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