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Journal Abstract Search

187 related items for PubMed ID: 9475598

  • 1. RSH (Smith-Lemli-Opitz) syndrome: "severe" phenotype with ectrodactyly.
    de Jong G, Kirby PA, Muller LM.
    Am J Med Genet; 1998 Jan 23; 75(3):283-7. PubMed ID: 9475598
    [Abstract] [Full Text] [Related]

  • 2. Smith-Lemli-Opitz syndrome: the changing phenotype with age.
    de Die-Smulders C, Fryns JP.
    Genet Couns; 1992 Jan 23; 3(2):77-82. PubMed ID: 1642814
    [Abstract] [Full Text] [Related]

  • 3. A boy with severe manifestations of type A1 brachydactyly.
    Slavotinek A, Donnai D.
    Clin Dysmorphol; 1998 Jan 23; 7(1):21-7. PubMed ID: 9546826
    [Abstract] [Full Text] [Related]

  • 4. Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.
    Nowaczyk MJ, Eng B, Waye JS, Farrell SA, Sirkin WL.
    Am J Med Genet A; 2003 Jul 15; 120A(2):305-7. PubMed ID: 12833423
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  • 6. Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.
    Digilio MC, Marino B, Giannotti A, Dallapiccola B, Opitz JM.
    Birth Defects Res A Clin Mol Teratol; 2003 Mar 15; 67(3):149-53. PubMed ID: 12797454
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  • 8. 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 15; 41(8):577-84. PubMed ID: 15286151
    [Abstract] [Full Text] [Related]

  • 9. 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 Aug 15; 71(1-2):163-74. PubMed ID: 11001807
    [Abstract] [Full Text] [Related]

  • 10. Cooks syndrome: a case report and brief review.
    Brennan CB, Buehler T, Lesher JL.
    Pediatr Dermatol; 2013 Aug 15; 30(4):e52-3. PubMed ID: 22329539
    [Abstract] [Full Text] [Related]

  • 11. Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn.
    Wegner RD, Entezami M, Knoll U, Horn D, Sohl S, Becker R.
    Am J Med Genet A; 2004 Jan 01; 124A(1):85-8. PubMed ID: 14679592
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  • 12. 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 01; 73(8):569-71. PubMed ID: 15965973
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  • 14. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
    Sharland M, Patton MA, Hill L.
    Am J Med Genet; 1991 Jun 15; 39(4):413-4. PubMed ID: 1877619
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  • 15. Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity.
    Turnpenny PD, Johnston AW, Dean JC, Haites NE, Couzin DA, Stephen GS.
    Clin Dysmorphol; 1992 Apr 15; 1(2):103-9. PubMed ID: 1345512
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  • 16. Prenatal death in Smith-Lemli-Opitz/RSH syndrome.
    Putnam AR, Szakacs JG, Opitz JM, Byrne JL.
    Am J Med Genet A; 2005 Sep 15; 138(1):61-5. PubMed ID: 15940686
    [No Abstract] [Full Text] [Related]

  • 17. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
    Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, Utermann G, Graham GE.
    Am J Med Genet; 2002 Jun 15; 110(2):103-8. PubMed ID: 12116246
    [Abstract] [Full Text] [Related]

  • 18. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
    Debeer P, Vandenbossche L, de Ravel TJ, Desloovere C, De Smet L, Huysmans C, Thoelen R, Vermeesch J, Van de Ven WJ, Fryns JP.
    Clin Genet; 2004 Feb 15; 65(2):153-5. PubMed ID: 14984476
    [No Abstract] [Full Text] [Related]

  • 19. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
    Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD.
    Hum Mol Genet; 2001 Mar 15; 10(6):555-64. PubMed ID: 11230174
    [Abstract] [Full Text] [Related]

  • 20. Sacral dimple as a skin manifestation of the Smith-Lemli-Opitz syndrome.
    Bzduch V, Behulova D, Kozak L.
    J Inherit Metab Dis; 2007 Apr 15; 30(2):269-70. PubMed ID: 17347909
    [No Abstract] [Full Text] [Related]

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