517 related articles for article (PubMed ID: 11001806)
1. 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]
2. 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]
3. Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Ginat S; Battaile KP; Battaile BC; Maslen C; Gibson KM; Steiner RD
Mol Genet Metab; 2004; 83(1-2):175-83. PubMed ID: 15464432
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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; 85(2):96-107. PubMed ID: 15896653
[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. 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]
10. 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]
11. 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
[TBL] [Abstract][Full Text] [Related]
12. Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.
Kolejáková K; Petrovic R; Futas J; Turcáni P; Durovcíková D; Chandoga J
Gen Physiol Biophys; 2009 Mar; 28(1):8-15. PubMed ID: 19390132
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the human DHCR7 gene.
Witsch-Baumgartner M; Löffler J; Utermann G
Hum Mutat; 2001 Mar; 17(3):172-82. PubMed ID: 11241839
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. 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; 66(4):478-84. PubMed ID: 8989473
[TBL] [Abstract][Full Text] [Related]
18. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
Alkuraya FS; Picker J; Irons MB; Kimonis VE
Birth Defects Res A Clin Mol Teratol; 2005 Aug; 73(8):569-71. PubMed ID: 15965973
[TBL] [Abstract][Full Text] [Related]
19. [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].
Oberthür A; Heller R; Vogel M; Körber F; Rahimi G; Hoopmann M; Emmel M; Roth B; Vierzig A
Z Geburtshilfe Neonatol; 2009 Oct; 213(5):210-4. PubMed ID: 19856245
[TBL] [Abstract][Full Text] [Related]
20. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome.
Fitzky BU; Moebius FF; Asaoka H; Waage-Baudet H; Xu L; Xu G; Maeda N; Kluckman K; Hiller S; Yu H; Batta AK; Shefer S; Chen T; Salen G; Sulik K; Simoni RD; Ness GC; Glossmann H; Patel SB; Tint GS
J Clin Invest; 2001 Sep; 108(6):905-15. PubMed ID: 11560960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
