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7. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Jezela-Stanek A; Małunowicz EM; Ciara E; Popowska E; Goryluk-Kozakiewicz B; Spodar K; Czerwiecka M; Jezuita J; Nowaczyk MJ; Krajewska-Walasek M Clin Genet; 2006 Jan; 69(1):77-85. PubMed ID: 16451140 [TBL] [Abstract][Full Text] [Related]
8. 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; 26(1):59. PubMed ID: 15954111 [TBL] [Abstract][Full Text] [Related]
9. 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; 110(1-2):176-8. PubMed ID: 23628460 [TBL] [Abstract][Full Text] [Related]
11. Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient. Loeffler J; Utermann G; Witsch-Baumgartner M Prenat Diagn; 2002 Sep; 22(9):827-30. PubMed ID: 12224080 [TBL] [Abstract][Full Text] [Related]
12. 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; 17():22. PubMed ID: 26969503 [TBL] [Abstract][Full Text] [Related]
13. Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. Battaile KP; Steiner RD Mol Genet Metab; 2000; 71(1-2):154-62. PubMed ID: 11001806 [TBL] [Abstract][Full Text] [Related]
14. Mutational spectrum of Smith-Lemli-Opitz syndrome. Waterham HR; Hennekam RC Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):263-84. PubMed ID: 23042628 [TBL] [Abstract][Full Text] [Related]
16. Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes. Francis KR; Ton AN; Xin Y; O'Halloran PE; Wassif CA; Malik N; Williams IM; Cluzeau CV; Trivedi NS; Pavan WJ; Cho W; Westphal H; Porter FD Nat Med; 2016 Apr; 22(4):388-96. PubMed ID: 26998835 [TBL] [Abstract][Full Text] [Related]
17. Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. Correa-Cerro LS; Wassif CA; Kratz L; Miller GF; Munasinghe JP; Grinberg A; Fliesler SJ; Porter FD Hum Mol Genet; 2006 Mar; 15(6):839-51. PubMed ID: 16446309 [TBL] [Abstract][Full Text] [Related]
18. 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; 71(1-2):163-74. PubMed ID: 11001807 [TBL] [Abstract][Full Text] [Related]
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; 44(3):332-3. PubMed ID: 25117108 [TBL] [Abstract][Full Text] [Related]
20. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. Nowaczyk MJ; Heshka T; Kratz LE; Kelley RE Am J Med Genet; 2000 Dec; 95(4):396-8. PubMed ID: 11186897 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]