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Journal Abstract Search

405 related items for PubMed ID: 10719329

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  • 23. 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; 27(9):506-8. PubMed ID: 8919321
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  • 26. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
    Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G.
    J Med Genet; 2008 Apr; 45(4):200-9. PubMed ID: 17965227
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  • 29. 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 Apr; 51(2):124-40. PubMed ID: 18249054
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  • 30. 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; 41(8):577-84. PubMed ID: 15286151
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  • 31. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome.
    Hyett JA, Clayton PT, Moscoso G, Nicolaides KH.
    Am J Med Genet; 1995 Sep 25; 58(4):374-6. PubMed ID: 8533850
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  • 32. 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 25; 63(1):55-62. PubMed ID: 9634533
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  • 34. 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 Jul 25; 44(3):332-3. PubMed ID: 25117108
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  • 35. 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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  • 36. Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.
    Travessa A, Dias P, Rocha P, Sousa AB.
    Taiwan J Obstet Gynecol; 2017 Aug 30; 56(4):541-544. PubMed ID: 28805615
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  • 39. 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 30; 85(3):228-35. PubMed ID: 15979035
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