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Journal Abstract Search

433 related items for PubMed ID: 18006960

  • 21. 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; 85(2):96-107. PubMed ID: 15896653
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  • 22. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Jun; 71(1-2):154-62. PubMed ID: 11001806
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  • 23. Mutations in the human DHCR7 gene.
    Witsch-Baumgartner M, Löffler J, Utermann G.
    Hum Mutat; 2001 Mar; 17(3):172-82. PubMed ID: 11241839
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  • 25. Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.
    Waage-Baudet H, Dunty WC, Dehart DB, Hiller S, Sulik KK.
    Dev Neurosci; 2005 Mar; 27(6):378-96. PubMed ID: 16280635
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  • 26. Smith-Lemli-Opitz syndrome among Arabs.
    Al-Owain M, Imtiaz F, Shuaib T, Edrees A, Al-Amoudi M, Sakati N, Al-Hassnan Z, Bamashmous H, Rahbeeni Z, Al-Ameer S, Faqeih E, Meyer B, Al-Hashem A, Garout W, Al-Odaib A, Rashed M, Al-Aama JY.
    Clin Genet; 2012 Aug; 82(2):165-72. PubMed ID: 21696385
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  • 31. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
    Battaile KP, Battaile BC, Merkens LS, Maslen CL, Steiner RD.
    Mol Genet Metab; 2001 Jan; 72(1):67-71. PubMed ID: 11161831
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  • 32. 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 Jan; 9(4):201-4. PubMed ID: 16392899
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  • 33. DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
    Scalco FB, Correa-Cerro LS, Wassif CA, Porter FD, Moretti-Ferreira D.
    Am J Med Genet A; 2005 Jul 30; 136(3):278-81. PubMed ID: 15952211
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  • 34. A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrome infant presenting with neonatal cholestasis.
    Ko JS, Choi BS, Seo JK, Shin JY, Chae JH, Kang GH, Lee R, Ki CS, Kim JW.
    J Korean Med Sci; 2010 Jan 30; 25(1):159-62. PubMed ID: 20052364
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  • 39. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
    Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.
    Mol Genet Metab; 2013 Jan 30; 110(1-2):176-8. PubMed ID: 23628460
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  • 40. R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
    Matsumoto Y, Morishima KI, Honda A, Watabe S, Yamamoto M, Hara M, Hasui M, Saito C, Takayanagi T, Yamanaka T, Saito N, Kudo H, Okamoto N, Tsukahara M, Matsuura S.
    J Hum Genet; 2005 Jan 30; 50(7):353-356. PubMed ID: 16044199
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