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361 related items for PubMed ID: 19390132

  • 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. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome.
    Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang, Ki CS, Kim JW.
    J Child Neurol; 2007 Nov; 22(11):1297-300. PubMed ID: 18006960
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  • 30. 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
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  • 32. The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
    Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D.
    BMC Med Genet; 2016 Mar 11; 17():22. PubMed ID: 26969503
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  • 33. 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
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  • 34. 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
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  • 36. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
    Salen G, Tint GS, Xu G, Batta AK, Irons M, Elias ER.
    Ital J Gastroenterol; 1995 Dec 15; 27(9):506-8. PubMed ID: 8919321
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  • 37. 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 Dec 15; 9(4):201-4. PubMed ID: 16392899
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  • 38. A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.
    Battaile KP, Maslen CL, Wassif CA, Krakowiak P, Porter FD, Steiner RD.
    Genet Test; 1999 Dec 15; 3(4):361-3. PubMed ID: 10627944
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  • 39. Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.
    Liss J, Lukaszuk K, Bruszczyńska A, Szczerkowska Z, Rebala K.
    Fertil Steril; 2008 Nov 15; 90(5):2011.e13-6. PubMed ID: 18442819
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