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Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.
Merkens LS, Wassif C, Healy K, Pappu AS, DeBarber AE, Penfield JA, Lindsay RA, Roullet JB, Porter FD, Steiner RD. Merkens LS, et al. Among authors: roullet jb. Genet Med. 2009 May;11(5):359-64. doi: 10.1097/GIM.0b013e31819b246e. Genet Med. 2009. PMID: 19452638 Free PMC article.
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Ren G, Jacob RF, Kaulin Y, Dimuzio P, Xie Y, Mason RP, Tint GS, Steiner RD, Roullet JB, Merkens L, Whitaker-Menezes D, Frank PG, Lisanti MP, Cox RH, Tulenko TN. Ren G, et al. Among authors: roullet jb. Mol Genet Metab. 2011 Nov;104(3):346-55. doi: 10.1016/j.ymgme.2011.04.019. Epub 2011 May 27. Mol Genet Metab. 2011. PMID: 21724437 Free PMC article.
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Eroglu Y, et al. Among authors: roullet jb. Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28349652 Free PMC article.
123 results