NICHD Conference on the RSH/SLO SyndromeAmerican journal of medical genetics. 1997, Vol 68, Num 3, pp 338-341, issn 0148-7299Conference Proceedings

A new face for an old syndromeKELLEY, R. I.American journal of medical genetics. 1997, Vol 68, Num 3, pp 251-256, issn 0148-7299Conference Paper

Becker nevus syndromeHAPPLE, R; KOOPMAN, R. J. J.American journal of medical genetics. 1997, Vol 68, Num 3, pp 357-361, issn 0148-7299Conference Paper

Cardiovascular malformations in Smith-Lemli-Opitz syndromeLIN, A. E; ARDINGER, H. H; ARDINGER, R. H et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 270-278, issn 0148-7299Conference Paper

Rapid publication. Clinical and locus heterogeneity in brachydactyly type CROBIN, N. H; GUNAY-AYGUN, M; POLINKOVSKY, A et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 369-377, issn 0148-7299Conference Paper

Treatment of Smith-Lemli-Opitz syndrome : Results of a multicenter trialIRONS, M; ELIAS, E. R; ABUELO, D et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 311-314, issn 0148-7299Conference Paper

An atypical case of Fanconi anemia in elderly sibsKWEE, M. L; VAN DER KLEIJ, J. M; VAN ESSEN, A. J et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 362-366, issn 0148-7299Conference Paper

New MCA/MR syndrome with generalized hypotonia, congenital hydronephrosis, and characteristic faceOKAMOTO, N; MATSUMOTO, F; SHIMADA, K et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 347-349, issn 0148-7299Conference Paper

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndromeDEHART, D. B; LANOUE, L; TINT, G. S et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 328-337, issn 0148-7299Conference Paper

Smith-Lemli-Opitz syndrome : Thirty-year follow-up of S of RSH syndromePAULI, R. M; WILLIAMS, M. S; JOSEPHSON, K. D et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 260-262, issn 0148-7299Conference Paper

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)ELIAS, E. R; IRONS, M. B; HURLEY, A. D et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 305-310, issn 0148-7299Conference Paper

Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimenOOSTRA, R.-J; BALJET, B; SCHUTGENS, R. B. H et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 257-259, issn 0148-7299Conference Paper

Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levelsNESS, G. C; LOPEZ, D; BORREGO, O et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 294-299, issn 0148-7299Conference Paper

Screening for abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome : Rapid determination of plasma 7-dehydrocholesterol by ultraviolet spectrometryHONDA, A; BATTA, A. K; SALEN, G et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 288-293, issn 0148-7299Conference Paper

Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20)(q32.1;q13.2)ALLEY, T. L; SCHERER, S. W; HUIZENGA, J. J et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 279-281, issn 0148-7299Conference Paper

Smith-Lemli-Opitz syndrome produced in rats with AY 9944 treated by intravenous injection of lipoprotein cholesterolCHAMBERS, C. M; MCLEAN, M. P; NESS, G. C et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 322-327, issn 0148-7299Conference Paper

Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs : A newly described autosomal recessive disorderCHUDLEY, A. E; MCCULLOUGH, C; MCCULLOUGH, D. W et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 350-356, issn 0148-7299Conference Paper

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndromeNWOKORO, N. A; MULVIHILL, J. J.American journal of medical genetics. 1997, Vol 68, Num 3, pp 315-321, issn 0148-7299Conference Paper

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolismCUNNIFF, C; KRATZ, L. E; MOSER, A et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 263-269, issn 0148-7299Conference Paper

Sterol concentrations in cultured Smith-Lemli-Opitz syndrome skin fibroblasts : Diagnosis of a biochemically atypical case of the syndromeHONDA, A; TINT, G. S; SALEN, G et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 282-287, issn 0148-7299Conference Paper

Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasiaURIOSTE, M; RODRIGUEZ, J. I; BOFARULL, J. M et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 342-346, issn 0148-7299Conference Paper

Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometryZIMMERMAN, P. A; HERCULES, D. M; NAYLOR, E. W et al.American journal of medical genetics. 1997, Vol 68, Num 3, pp 300-304, issn 0148-7299Conference Paper