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Journal Abstract Search

458 related items for PubMed ID: 23059950

  • 1. 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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  • 2. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
    Porter FD.
    Eur J Hum Genet; 2008 May 15; 16(5):535-41. PubMed ID: 18285838
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  • 3. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.
    Porter FD.
    Mol Genet Metab; 2000 May 15; 71(1-2):163-74. PubMed ID: 11001807
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  • 5. 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 May 15; 51(2):124-40. PubMed ID: 18249054
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  • 9. 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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  • 10. 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 11; 20(3):238-40. PubMed ID: 10719329
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  • 12. Recent insights into the Smith-Lemli-Opitz syndrome.
    Yu H, Patel SB.
    Clin Genet; 2005 Nov 11; 68(5):383-91. PubMed ID: 16207203
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  • 15. 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 11; 26(1):59. PubMed ID: 15954111
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  • 16.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Nowaczyk MJM, Wassif CA.
    ; 1993 Jul 11. PubMed ID: 20301322
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  • 17. 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 11; 85(2):96-107. PubMed ID: 15896653
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  • 18. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE.
    Am J Med Genet; 2000 Dec 11; 95(4):396-8. PubMed ID: 11186897
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  • 19. Fresh frozen plasma as a source of cholesterol for newborn with Smith-Lemli-Opitz syndrome associated with defective cholesterol synthesis.
    Boctor FN, Wilkerson ML.
    Ann Clin Lab Sci; 2014 Dec 11; 44(3):332-3. PubMed ID: 25117108
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  • 20. 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 Dec 11; 110(1-2):176-8. PubMed ID: 23628460
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