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Journal Abstract Search

182 related items for PubMed ID: 12717589

  • 1. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.
    Rakheja D, Wilson GN, Rogers BB.
    Pediatr Dev Pathol; 2003; 6(3):270-7. PubMed ID: 12717589
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 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 04; 80(4):322-6. PubMed ID: 9856557
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 73(8):569-71. PubMed ID: 15965973
    [Abstract] [Full Text] [Related]

  • 6. Clinical case: vermis hypoplasia with features of Smith-Lemli-Opitz syndrome.
    Koutsouraki E, Markou E, Karlovasitou A, Costa V, Baloyannis S.
    Int J Neurosci; 2007 Apr 04; 117(4):443-51. PubMed ID: 17365127
    [Abstract] [Full Text] [Related]

  • 7. [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia].
    GarcíaFuentes E, icioso Recio MV, del Castillo Acedo Del Olmo E, atas Jurado MM, Arana Agüera M, López López J.
    An Esp Pediatr; 2000 Nov 04; 53(5):482-7. PubMed ID: 11141372
    [Abstract] [Full Text] [Related]

  • 8. [Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].
    Aalfs CM, Hennekam RC, Wanders RJ, Jira PE, Pilon JW, Wijburg FA.
    Ned Tijdschr Geneeskd; 1996 Jul 13; 140(28):1463-6. PubMed ID: 8766772
    [Abstract] [Full Text] [Related]

  • 9. Precholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata.
    Rakheja D, Boriack RL.
    Pediatr Dev Pathol; 2008 Jul 13; 11(2):128-32. PubMed ID: 17378665
    [Abstract] [Full Text] [Related]

  • 10. [Smith-Lemli-Opitz syndrome].
    Haghiri N, Menget A, Laitier V, Fromentin C, Nocton F, Kalach N.
    Arch Pediatr; 1999 May 13; 6(5):536-9. PubMed ID: 10370810
    [Abstract] [Full Text] [Related]

  • 11. 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 13; 75(4):325-34. PubMed ID: 12051964
    [Abstract] [Full Text] [Related]

  • 12. Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.
    Opitz JM, Gilbert-Barness E, Ackerman J, Lowichik A.
    Pediatr Pathol Mol Med; 2002 Apr 13; 21(2):153-81. PubMed ID: 11942534
    [Abstract] [Full Text] [Related]

  • 13. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
    Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA.
    Am J Med Genet; 1994 May 01; 50(4):368-74. PubMed ID: 8209918
    [Abstract] [Full Text] [Related]

  • 14. [An autopsy case of Smith-Lemli-Opitz syndrome].
    Nagao M, Iwadate K, Zhang WD, Takahashi H, Yamada Y, Suzuki H, Takatori T.
    Nihon Hoigaku Zasshi; 1994 Aug 01; 48(4):274-8. PubMed ID: 7967168
    [Abstract] [Full Text] [Related]

  • 15. Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
    Oslejskova H, Horinova V, Sterba J, Pavelka Z, Babovic-Vuksanovic D, Dubska L, Valik D.
    J Pediatr Hematol Oncol; 2008 Sep 01; 30(9):689-91. PubMed ID: 18776762
    [Abstract] [Full Text] [Related]

  • 16. 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 Sep 01; 83(1-2):175-83. PubMed ID: 15464432
    [Abstract] [Full Text] [Related]

  • 17. Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome.
    Kumar S, Suthar R, Panigrahi I.
    J Pediatr Endocrinol Metab; 2012 Sep 01; 25(9-10):1001-5. PubMed ID: 23426833
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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 11; 85(2):96-107. PubMed ID: 15896653
    [Abstract] [Full Text] [Related]

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