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Journal Abstract Search

453 related items for PubMed ID: 9634533

  • 1. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
    Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.
    Am J Hum Genet; 1998 Jul; 63(1):55-62. PubMed ID: 9634533
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  • 2. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
    Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ.
    Am J Hum Genet; 1998 Aug; 63(2):329-38. PubMed ID: 9683613
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  • 3. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
    Fitzky BU, Witsch-Baumgartner M, Erdel M, Lee JN, Paik YK, Glossmann H, Utermann G, Moebius FF.
    Proc Natl Acad Sci U S A; 1998 Jul 07; 95(14):8181-6. PubMed ID: 9653161
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  • 4. Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GF, Clayton P, Kelley RI, Utermann G.
    Am J Hum Genet; 2000 Feb 07; 66(2):402-12. PubMed ID: 10677299
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  • 9. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
    Witsch-Baumgartner M, Ciara E, Löffler J, Menzel HJ, Seedorf U, Burn J, Gillessen-Kaesbach G, Hoffmann GF, Fitzky BU, Mundy H, Clayton P, Kelley RI, Krajewska-Walasek M, Utermann G.
    Eur J Hum Genet; 2001 Jan 07; 9(1):45-50. PubMed ID: 11175299
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  • 10. Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
    De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G.
    Eur J Hum Genet; 1999 Dec 07; 7(8):937-40. PubMed ID: 10602371
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  • 14. 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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  • 16. Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
    Löffler J, Trojovsky A, Casati B, Kroisel PM, Utermann G.
    Am J Med Genet; 2000 Nov 13; 95(2):174-7. PubMed ID: 11078571
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  • 18. Mutational spectrum of Smith-Lemli-Opitz syndrome.
    Waterham HR, Hennekam RC.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):263-84. PubMed ID: 23042628
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  • 19. A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
    Romano F, Fiore B, Pezzino FM, Longombardo MT, Cefalù AB, Noto D, Puglisi A, Brogna A, Mattina T, Averna M, Travali S.
    Mol Diagn; 2005 Nov 15; 9(4):201-4. PubMed ID: 16392899
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