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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 16497572)

  • 1. SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
    Ciara E; Popowska E; Piekutowska-Abramczuk D; Jurkiewicz D; Borucka-Mankiewicz M; Kowalski P; Goryluk-Kozakiewicz B; Nowaczyk MJ; Krajewska-Walasek M
    Eur J Med Genet; 2006; 49(6):499-504. PubMed ID: 16497572
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
    Ciara E; Nowaczyk MJ; Witsch-Baumgartner M; Malunowicz E; Popowska E; Jezela-Stanek A; Piotrowicz M; Waye JS; Utermann G; Krajewska-Walasek M
    Clin Genet; 2004 Dec; 66(6):517-24. PubMed ID: 15521979
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
    Witsch-Baumgartner M; Ciara E; Löffler J; Menzel HJ; Seedorf U; Burn J; Gillessen-Kaesbach G; Hoffmann GF; Fitzky BU; Mundy H; Clayton P; Kelley RI; Krajewska-Walasek M; Utermann G
    Eur J Hum Genet; 2001 Jan; 9(1):45-50. PubMed ID: 11175299
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?
    Nowaczyk MJ; Waye JS; Douketis JD
    Am J Med Genet A; 2006 Oct; 140(19):2057-62. PubMed ID: 16906538
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.