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Journal Abstract Search

265 related items for PubMed ID: 7731422

  • 1. [Low cholesterol and pathological manifestations: Smith-Lemli-Opitz syndrome].
    Franceschini P, Franceschini D.
    Minerva Pediatr; 1994 Dec; 46(12):579-80. PubMed ID: 7731422
    [No Abstract] [Full Text] [Related]

  • 2. Diagnosis of Smith-Lemli-Opitz syndrome.
    Seedorf U, Walter M, Assmann G.
    N Engl J Med; 1994 Jun 09; 330(23):1686-7. PubMed ID: 8177282
    [No Abstract] [Full Text] [Related]

  • 3. The Smith-Lemli-Opitz syndrome. A detailed pathological study as a clue to a etiological heterogeneity.
    Cherstvoy ED, Lazjuk GI, Ostrovskaya TI, Shved IA, Kravtzova GI, Lurie IW, Gerasimovich AI.
    Virchows Arch A Pathol Anat Histopathol; 1984 Jun 09; 404(4):413-25. PubMed ID: 6437074
    [Abstract] [Full Text] [Related]

  • 4. Two cases of severe lethal Smith-Lemli-Opitz syndrome.
    Belmont JW, Hawkins E, Hejtmancik JF, Greenberg F.
    Am J Med Genet; 1987 Jan 09; 26(1):65-7. PubMed ID: 3812579
    [No Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management.
    Nwokoro NA, Hyde B, Mulvihill JJ.
    Am J Med Genet; 1994 May 01; 50(4):375-6. PubMed ID: 8209919
    [Abstract] [Full Text] [Related]

  • 7. Smith-Lemli-Opitz syndrome.
    Smithells RW.
    Dev Med Child Neurol; 1968 Oct 01; 10(5):663-5. PubMed ID: 5708286
    [No Abstract] [Full Text] [Related]

  • 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 01; 41(8):577-84. PubMed ID: 15286151
    [Abstract] [Full Text] [Related]

  • 9. Diagnosis of Smith-Lemli-Opitz syndrome.
    McGaughran J, Donnai D, Clayton P, Mills K.
    N Engl J Med; 1994 Jun 09; 330(23):1685-6; author reply 1687. PubMed ID: 8177281
    [No Abstract] [Full Text] [Related]

  • 10. Amniotic band sequence: Streeter hypothesis revisited.
    Bamforth JS.
    Birth Defects Orig Artic Ser; 1993 Jun 09; 29(1):279-89. PubMed ID: 8280880
    [No Abstract] [Full Text] [Related]

  • 11. Bartsocas-Papas syndrome in a Pakistani family from Kuwait.
    Al-Sawan RM, Soni AL, Al-Nakkas EM, Gang RK.
    Indian Pediatr; 2004 Jul 09; 41(7):725-7. PubMed ID: 15297688
    [Abstract] [Full Text] [Related]

  • 12. [The Silver-Russell syndrome].
    Bene M, Moga L.
    Rev Pediatr Obstet Ginecol Pediatr; 1980 Jul 09; 29(3):255-63. PubMed ID: 6781034
    [No Abstract] [Full Text] [Related]

  • 13. [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]

  • 14. A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect.
    Barrow M, Fitzsimmons JS.
    Am J Med Genet; 1984 Jul 13; 18(3):431-3. PubMed ID: 6476004
    [No Abstract] [Full Text] [Related]

  • 15. Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?
    Donnai D, Burn J, Hughes H.
    Am J Med Genet; 1987 Nov 13; 28(3):741-3. PubMed ID: 3425639
    [No Abstract] [Full Text] [Related]

  • 16. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
    Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M.
    Am J Med Genet; 1994 May 01; 50(4):347-52. PubMed ID: 8209913
    [Abstract] [Full Text] [Related]

  • 17. [Malformative syndrome caused by amniotic bands].
    Fabris C, Prandi GM, Martano C, Mostert M.
    Minerva Pediatr; 1981 Jan 31; 33(2):91-4. PubMed ID: 7242483
    [No Abstract] [Full Text] [Related]

  • 18. One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
    Krajewska-Walasek M.
    Genet Couns; 1991 Jan 31; 2(4):221-5. PubMed ID: 1799420
    [Abstract] [Full Text] [Related]

  • 19. [The "Charlie M." syndrome: a new clinical entity? Description of a case].
    Bonioli E, Sbolgi P, Bernaola E, Pacciani G, Cottafava F.
    Minerva Pediatr; 1980 May 31; 32(10):699-702. PubMed ID: 6779104
    [No Abstract] [Full Text] [Related]

  • 20. Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.
    Opitz JM, Penchaszadeh VB, Holt MC, Spano LM, Smith VL.
    Am J Med Genet; 1994 May 01; 50(4):339-43. PubMed ID: 8209911
    [No Abstract] [Full Text] [Related]

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