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Journal Abstract Search

134 related items for PubMed ID: 3812579

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

  • 2. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.
    Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S.
    Am J Med Genet; 1987 Jan; 26(1):45-57. PubMed ID: 3812577
    [Abstract] [Full Text] [Related]

  • 3. Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome.
    Lowry RB.
    Am J Med Genet; 1983 Mar; 14(3):429-33. PubMed ID: 6859094
    [No Abstract] [Full Text] [Related]

  • 4. Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome.
    Kohler HG.
    Am J Med Genet; 1983 Mar; 14(3):423-8. PubMed ID: 6859093
    [Abstract] [Full Text] [Related]

  • 5. The nosology of the Smith-Lemli-Opitz Syndrome.
    Penchaszadeh VB.
    Am J Med Genet; 1987 Nov; 28(3):719-21. PubMed ID: 3425637
    [No Abstract] [Full Text] [Related]

  • 6. [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]

  • 7. 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]

  • 8. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.
    Greenberg F, Gresik MV, Carpenter RJ, Law SW, Hoffman LP, Ledbetter DH.
    Am J Med Genet; 1987 Jan 09; 26(1):59-64. PubMed ID: 3812578
    [Abstract] [Full Text] [Related]

  • 9. One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
    Krajewska-Walasek M.
    Genet Couns; 1991 Jan 09; 2(4):221-5. PubMed ID: 1799420
    [Abstract] [Full Text] [Related]

  • 10. Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?
    Donnai D, Burn J, Hughes H.
    Am J Med Genet; 1987 Nov 09; 28(3):741-3. PubMed ID: 3425639
    [No Abstract] [Full Text] [Related]

  • 11. Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.
    Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML.
    Am J Med Genet; 1987 Nov 09; 28(3):723-31. PubMed ID: 3322011
    [Abstract] [Full Text] [Related]

  • 12. [Smith-Lemli-Opitz syndrome. Cardiologic considerations (author's transl)].
    Gómez de Terreros I, Cintado Bueno C, Ariza Almeida S, González Meneses A.
    An Esp Pediatr; 1975 Nov 09; 8(6):689-94. PubMed ID: 1211697
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Nosology of Smith-Lemli-Opitz syndrome.
    Thompson E, Baraitser M.
    Am J Med Genet; 1987 Nov 09; 28(3):733-4. PubMed ID: 3322012
    [No Abstract] [Full Text] [Related]

  • 15. [New possibilities for children with Smith-Lemli-Opitz syndrome. A cholesterol synthesis defect discovered].
    Starck L, Björkhem I, Lund E, von Döbeln U.
    Lakartidningen; 1995 Sep 13; 92(37):3325-6, 3329. PubMed ID: 7674730
    [No Abstract] [Full Text] [Related]

  • 16. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
    Cantú JM, Hernández A, Ramírez J, Bernal M, Rubio G, Urrusti J, Franco-Vázquez S.
    Birth Defects Orig Artic Ser; 1975 Sep 13; 11(5):91-8. PubMed ID: 1218241
    [Abstract] [Full Text] [Related]

  • 17. Congenital cataract and heart septal defects: are contiguous or reciprocally influenced genes involved?
    Bianca S, Barrano B, Barone C, Cataliotti A, Indaco L, Boemi G, Bartoloni G, Ettore G.
    Congenit Heart Dis; 2009 Sep 13; 4(3):196-7. PubMed ID: 19489951
    [No Abstract] [Full Text] [Related]

  • 18. Smith-Lemli-Opitz syndrome with cardiovascular abnormality.
    Robinson CD, Perry LW, Barlee A, Mella GW.
    Pediatrics; 1971 May 13; 47(5):844-7. PubMed ID: 5573870
    [No Abstract] [Full Text] [Related]

  • 19. Limb deficiency in an infant with Smith-Lemli-Opitz syndrome.
    Singer LP, Marion RW, Li JK.
    Am J Med Genet; 1989 Mar 13; 32(3):380-3. PubMed ID: 2729358
    [Abstract] [Full Text] [Related]

  • 20. Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies.
    Lukusa T, Moerman P, Fryns JP.
    Genet Couns; 1996 Mar 13; 7(3):207-12. PubMed ID: 8897042
    [Abstract] [Full Text] [Related]

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