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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

468 related items for PubMed ID: 8989473

  • 1. 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 30; 66(4):478-84. PubMed ID: 8989473
    [Abstract] [Full Text] [Related]

  • 2. 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 31; 68(3):263-9. PubMed ID: 9024557
    [Abstract] [Full Text] [Related]

  • 3. 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 Jan 31; 71(1-2):163-74. PubMed ID: 11001807
    [Abstract] [Full Text] [Related]

  • 4. 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 31; 75(4):325-34. PubMed ID: 12051964
    [Abstract] [Full Text] [Related]

  • 5. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
    Kratz LE, Kelley RI.
    Am J Med Genet; 1999 Feb 19; 82(5):376-81. PubMed ID: 10069707
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Inborn errors of cholesterol biosynthesis.
    Kelley RI.
    Adv Pediatr; 2000 Feb 19; 47():1-53. PubMed ID: 10959439
    [Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome.
    Gofflot F, Kolf-Clauw M, Clotman F, Roux C, Picard JJ.
    Am J Med Genet; 1999 Nov 26; 87(3):207-16. PubMed ID: 10564872
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17. 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 10; 56(3):272-5. PubMed ID: 7778588
    [Abstract] [Full Text] [Related]

  • 18. Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat.
    Kolf-Clauw M, Chevy F, Ponsart C.
    J Lab Clin Med; 1998 Mar 10; 131(3):222-7. PubMed ID: 9523845
    [Abstract] [Full Text] [Related]

  • 19. Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE.
    Am J Med Genet; 2000 Dec 11; 95(4):396-8. PubMed ID: 11186897
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 24.