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Year | Number of Results |
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2012 | 2 |
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Mutational spectrum of Smith-Lemli-Opitz syndrome.
Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):263-84. doi: 10.1002/ajmg.c.31346. Epub 2012 Oct 5.
Am J Med Genet C Semin Med Genet. 2012.
PMID: 23042628
Review.
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
Roullet JB, Merkens LS, Pappu AS, Jacobs MD, Winter R, Connor WE, Steiner RD.
Roullet JB, et al.
J Inherit Metab Dis. 2012 Sep;35(5):859-69. doi: 10.1007/s10545-012-9453-6. Epub 2012 Mar 6.
J Inherit Metab Dis. 2012.
PMID: 22391996
Free PMC article.
Item in Clipboard
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.
Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD.
Sparks SE, et al.
J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6.
J Inherit Metab Dis. 2014.
PMID: 24500076
Free PMC article.
Item in Clipboard
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.
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.
Item in Clipboard
Adrenal function in Smith-Lemli-Opitz syndrome.
Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA.
Bianconi SE, et al.
Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11.
Am J Med Genet A. 2011.
PMID: 21990131
Free PMC article.
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A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Wassif CA, Kratz L, Sparks SE, Wheeler C, Bianconi S, Gropman A, Calis KA, Kelley RI, Tierney E, Porter FD.
Wassif CA, et al.
Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.
Genet Med. 2017.
PMID: 27513191
Free PMC article.
Clinical Trial.
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