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4. 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]
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. 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]
7. 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]
8. 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]
9. Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome. Jong Hee Chae ; Ki Joong Kim ; Yong Seung Hwang ; Ki CS; Kim JW J Child Neurol; 2007 Nov; 22(11):1297-300. PubMed ID: 18006960 [TBL] [Abstract][Full Text] [Related]
10. 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 [TBL] [Abstract][Full Text] [Related]
11. 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 [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. 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]
14. 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. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Yu H; Lee MH; Starck L; Elias ER; Irons M; Salen G; Patel SB; Tint GS Hum Mol Genet; 2000 May; 9(9):1385-91. PubMed ID: 10814720 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. Battaile KP; Battaile BC; Merkens LS; Maslen CL; Steiner RD Mol Genet Metab; 2001 Jan; 72(1):67-71. PubMed ID: 11161831 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]