These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
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; 71(1-2):163-74. PubMed ID: 11001807 [TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Waye JS; Eng B; Nowaczyk MJ Prenat Diagn; 2007 Jul; 27(7):638-40. PubMed ID: 17441222 [TBL] [Abstract][Full Text] [Related]
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; 51(2):124-40. PubMed ID: 18249054 [TBL] [Abstract][Full Text] [Related]
6. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. Kratz LE; Kelley RI Am J Med Genet; 1999 Feb; 82(5):376-81. PubMed ID: 10069707 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Jezela-Stanek A; MaĆunowicz 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]
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; 17():22. PubMed ID: 26969503 [TBL] [Abstract][Full Text] [Related]
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; 20(3):238-40. PubMed ID: 10719329 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]