BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

362 related articles for article (PubMed ID: 19390132)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
    Correa-Cerro LS; Wassif CA; Waye JS; Krakowiak PA; Cozma D; Dobson NR; Levin SW; Anadiotis G; Steiner RD; Krajewska-Walasek M; Nowaczyk MJ; Porter FD
    J Med Genet; 2005 Apr; 42(4):350-7. PubMed ID: 15805162
    [No Abstract]   [Full Text] [Related]  

  • 19. Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
    Witsch-Baumgartner M; Fitzky BU; Ogorelkova M; Kraft HG; Moebius FF; Glossmann H; Seedorf U; Gillessen-Kaesbach G; Hoffmann GF; Clayton P; Kelley RI; Utermann G
    Am J Hum Genet; 2000 Feb; 66(2):402-12. PubMed ID: 10677299
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Smith-Lemli-Opitz syndrome among Arabs.
    Al-Owain M; Imtiaz F; Shuaib T; Edrees A; Al-Amoudi M; Sakati N; Al-Hassnan Z; Bamashmous H; Rahbeeni Z; Al-Ameer S; Faqeih E; Meyer B; Al-Hashem A; Garout W; Al-Odaib A; Rashed M; Al-Aama JY
    Clin Genet; 2012 Aug; 82(2):165-72. PubMed ID: 21696385
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.