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Journal Abstract Search

306 related items for PubMed ID: 3812577

  • 1. 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
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  • 2. 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
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  • 3. 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; 26(1):59-64. PubMed ID: 3812578
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  • 4. 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
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  • 5. 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
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  • 8. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?
    McPherson E, Clemens M.
    Am J Med Genet; 1996 Mar 01; 62(1):58-60. PubMed ID: 8779326
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  • 10. One more case of a severe lethal condition resembling the Smith-Lemli-Opitz, type II syndrome.
    Krajewska-Walasek M.
    Genet Couns; 1991 Mar 01; 2(4):221-5. PubMed ID: 1799420
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  • 11. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
    Richieri-Costa A, Colletto GM, Gollop TR, Masiero D.
    Am J Med Genet; 1985 Apr 01; 20(4):631-8. PubMed ID: 2986457
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  • 12. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects.
    Casamassima AC, Mamunes P, Gladstone IM, Solomon S, Moncure C.
    Am J Med Genet; 1987 Feb 01; 26(2):321-36. PubMed ID: 3812585
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  • 16. A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations.
    Rutledge JC, Friedman JM, Harrod MJ, Currarino G, Wright CG, Pinckney L, Chen H.
    Am J Med Genet; 1984 Oct 01; 19(2):255-64. PubMed ID: 6507477
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  • 17. [Smith-Lemli-Opitz syndrome: evaluation of the correlations between individual traits as an approach to the study of heterogeneity].
    Nikonovich IuB, Kaurov BA, Lur'e IV.
    Tsitol Genet; 1987 Oct 01; 21(1):57-60. PubMed ID: 3564150
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  • 18. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
    Schrander-Stumpel C, de Die-Smulders C, Fryns JP, da Costa J, Bouckaert P.
    Am J Med Genet; 1990 Sep 01; 37(1):133-5. PubMed ID: 2240030
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  • 19. 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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  • 20. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.
    Lubinsky M, Severn C, Rapoport JM.
    Am J Med Genet; 1983 Mar 01; 14(3):461-6. PubMed ID: 6859098
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