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1. A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

Authors: D W SMITH; L LEMLI; J M OPITZ
Journal: J Pediatr Date: 1964-02 Impact factor: 4.406

2. Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

Authors: M Irons; E R Elias; G Salen; G S Tint; A K Batta
Journal: Lancet Date: 1993-05-29 Impact factor: 79.321

3. Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes.

Authors: A Honda; G S Tint; G Salen; A K Batta; T S Chen; S Shefer
Journal: J Lipid Res Date: 1995-07 Impact factor: 5.922

4. Teratogenic effect of the cholesterol synthesis inhibitor AY 9944 on rat embryos in vitro.

Authors: M Repetto; J C Maziere; D Citadelle; R Dupuis; M Meier; S Biade; D Quiec; C Roux
Journal: Teratology Date: 1990-12

5. Markedly increased tissue concentrations of 7-dehydrocholesterol combined with low levels of cholesterol are characteristic of the Smith-Lemli-Opitz syndrome.

Authors: G S Tint; M Seller; R Hughes-Benzie; A K Batta; S Shefer; D Genest; M Irons; E Elias; G Salen
Journal: J Lipid Res Date: 1995-01 Impact factor: 5.922

6. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.

Authors: A K Batta; G S Tint; S Shefer; D Abuelo; G Salen
Journal: J Lipid Res Date: 1995-04 Impact factor: 5.922

7. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

Authors: M Irons; E R Elias; G S Tint; G Salen; R Frieden; T M Buie; M Ampola
Journal: Am J Med Genet Date: 1994-05-01

Review 8. RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations.

Authors: J M Opitz
Journal: Am J Med Genet Date: 1994-05-01

9. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

Authors: G S Tint; M Irons; E R Elias; A K Batta; R Frieden; T S Chen; G Salen
Journal: N Engl J Med Date: 1994-01-13 Impact factor: 91.245

10. Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

Authors: D N Abuelo; G S Tint; R Kelley; A K Batta; S Shefer; G Salen
Journal: Am J Med Genet Date: 1995-04-10

10 in total