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Items: 10

1.

Inhibitors of 7-Dehydrocholesterol Reductase: Screening of a Collection of Pharmacologically Active Compounds in Neuro2a Cells.

Kim HY, Korade Z, Tallman KA, Liu W, Weaver CD, Mirnics K, Porter NA.

Chem Res Toxicol. 2016 May 16;29(5):892-900. doi: 10.1021/acs.chemrestox.6b00054. Epub 2016 Apr 28.

2.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

Thurm A, Tierney E, Farmer C, Albert P, Joseph L, Swedo S, Bianconi S, Bukelis I, Wheeler C, Sarphare G, Lanham D, Wassif CA, Porter FD.

J Neurodev Disord. 2016 Apr 5;8:12. doi: 10.1186/s11689-016-9145-x. eCollection 2016.

3.

Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.

Blassberg R, Macrae JI, Briscoe J, Jacob J.

Hum Mol Genet. 2016 Feb 15;25(4):693-705. doi: 10.1093/hmg/ddv507. Epub 2015 Dec 18.

4.

Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome.

Korade Z, Folkes OM, Harrison FE.

Pharmacol Biochem Behav. 2013 May;106:101-8. doi: 10.1016/j.pbb.2013.03.007. Epub 2013 Mar 26.

PMID:
23541496
5.

Autism: the role of cholesterol in treatment.

Aneja A, Tierney E.

Int Rev Psychiatry. 2008 Apr;20(2):165-70. doi: 10.1080/09540260801889062. Review.

PMID:
18386207
6.

Smith-Lemli-Opitz syndrome and autism spectrum disorder.

Bukelis I, Porter FD, Zimmerman AW, Tierney E.

Am J Psychiatry. 2007 Nov;164(11):1655-61. No abstract available.

PMID:
17974928
7.

Abnormalities of cholesterol metabolism in autism spectrum disorders.

Tierney E, Bukelis I, Thompson RE, Ahmed K, Aneja A, Kratz L, Kelley RI.

Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):666-8.

8.

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD.

Am J Med Genet A. 2006 Jul 15;140(14):1511-8.

PMID:
16761297
9.

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.

Waage-Baudet H, Lauder JM, Dehart DB, Kluckman K, Hiller S, Tint GS, Sulik KK.

Int J Dev Neurosci. 2003 Dec;21(8):451-9.

PMID:
14659996
10.

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Kelley RI.

Ment Retard Dev Disabil Res Rev. 2000;6(2):131-4. Review.

PMID:
10899806

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