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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF. McLarren KW, et al. Among authors: debarber ae. Am J Hum Genet. 2010 Dec 10;87(6):905-14. doi: 10.1016/j.ajhg.2010.11.004. Am J Hum Genet. 2010. PMID: 21129721 Free PMC article.
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
A useful multi-analyte blood test for cerebrotendinous xanthomatosis.
DeBarber AE, Luo J, Giugliani R, Souza CF, Chiang JP, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Clin Biochem. 2014 Jun;47(9):860-3. doi: 10.1016/j.clinbiochem.2014.04.017. Epub 2014 Apr 21. Clin Biochem. 2014. PMID: 24769274 Free PMC article.
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: debarber ae. Genet Med. 2009 May;11(5):359-64. doi: 10.1097/GIM.0b013e31819b246e. Genet Med. 2009. PMID: 19452638 Free PMC article.
46 results