BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

391 related articles for article (PubMed ID: 10069707)

  • 1. 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]  

  • 2. 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]  

  • 3. Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.
    Jezela-Stanek A; MaƂunowicz 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]  

  • 4. Atypical case of Smith-Lemli-Opitz syndrome: implications for diagnosis.
    Angle B; Tint GS; Yacoub OA; Clark AL
    Am J Med Genet; 1998 Dec; 80(4):322-6. PubMed ID: 9856557
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
    Rossiter JP; Hofman KJ; Kelley RI
    Am J Med Genet; 1995 Apr; 56(3):272-5. PubMed ID: 7778588
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.
    Haas D; Haege G; Hoffmann GF; Burgard P
    Am J Med Genet A; 2013 May; 161A(5):1008-11. PubMed ID: 23532938
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
    Anderson AJ; Stephan MJ; Walker WO; Kelley RI
    Am J Med Genet; 1998 Aug; 78(5):413-8. PubMed ID: 9714006
    [TBL] [Abstract][Full Text] [Related]  

  • 13. First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency).
    Mills K; Mandel H; Montemagno R; Soothill P; Gershoni-Baruch R; Clayton PT
    Pediatr Res; 1996 May; 39(5):816-9. PubMed ID: 8726234
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
    Cunniff C; Kratz LE; Moser A; Natowicz MR; Kelley RI
    Am J Med Genet; 1997 Jan; 68(3):263-9. PubMed ID: 9024557
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.
    Wassif CA; Vied D; Tsokos M; Connor WE; Steiner RD; Porter FD
    Mol Genet Metab; 2002 Apr; 75(4):325-34. PubMed ID: 12051964
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS).
    Craig WY; Haddow JE; Palomaki GE; Roberson M
    Prenat Diagn; 2007 May; 27(5):409-14. PubMed ID: 17286308
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
    Nowaczyk MJ; Irons MB
    Am J Med Genet C Semin Med Genet; 2012 Nov; 160C(4):250-62. PubMed ID: 23059950
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.