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Journal Abstract Search

361 related items for PubMed ID: 19390132

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  • 3. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.
    Cardoso ML, Balreira A, Martins E, Nunes L, Cabral A, Marques M, Lima MR, Marques JS, Medeira A, Cordeiro I, Pedro S, Mota MC, Dionisi-Vici C, Santorelli FM, Jakobs C, Clayton PT, Vilarinho L.
    Mol Genet Metab; 2005 Jul; 85(3):228-35. PubMed ID: 15979035
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  • 4. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
    Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.
    Clin Genet; 2004 Dec; 66(6):517-24. PubMed ID: 15521979
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  • 10. 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 Dec; 51(2):124-40. PubMed ID: 18249054
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  • 11. 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Porter FD.
    Mol Genet Metab; 2005 Feb; 84(2):112-26. PubMed ID: 15670717
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  • 12. Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
    Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G.
    Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776424
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  • 13. 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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  • 14. Mutations in the human DHCR7 gene.
    Witsch-Baumgartner M, Löffler J, Utermann G.
    Hum Mutat; 2001 Mar 15; 17(3):172-82. PubMed ID: 11241839
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  • 15. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
    Battaile KP, Steiner RD.
    Mol Genet Metab; 2000 Mar 15; 71(1-2):154-62. PubMed ID: 11001806
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  • 16. Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G.
    J Med Genet; 2004 Aug 15; 41(8):577-84. PubMed ID: 15286151
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  • 17. 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 Aug 15; 71(1-2):163-74. PubMed ID: 11001807
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  • 18. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS, Wassif CA, Waye JS, Krakowiak PA, Cozma D, Dobson NR, Levin SW, Anadiotis G, Steiner RD, Krajewska-Walasek M, Nowaczyk MJ, Porter FD.
    J Med Genet; 2005 Apr 15; 42(4):350-7. PubMed ID: 15805162
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  • 19. 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 15; 66(2):402-12. PubMed ID: 10677299
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  • 20. 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 15; 82(2):165-72. PubMed ID: 21696385
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