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Results: 1 to 20 of 66

1.
2.

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Schreiber JM, Lanham DC, Trescher WH, Sparks SE, Wassif CA, Caffo BS, Porter FD, Tierney E, Gropman AL, Ewen JB.

Neurology. 2014 Jul 8;83(2):151-9. doi: 10.1212/WNL.0000000000000565. Epub 2014 Jun 11.

3.

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.

J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6.

4.

Obstetric, perinatal, and fetal outcomes in pregnancies with false-positive integrated screening results.

Baer RJ, Currier RJ, Norton ME, Flessel MC, Goldman S, Towner D, Jelliffe-Pawlowski LL.

Obstet Gynecol. 2014 Mar;123(3):603-9. doi: 10.1097/AOG.0000000000000145.

PMID:
24499760
5.

Antioxidant supplementation ameliorates molecular deficits in Smith-Lemli-Opitz syndrome.

Korade Z, Xu L, Harrison FE, Ahsen R, Hart SE, Folkes OM, Mirnics K, Porter NA.

Biol Psychiatry. 2014 Feb 1;75(3):215-22. doi: 10.1016/j.biopsych.2013.06.013. Epub 2013 Jul 26.

6.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):176-8. doi: 10.1016/j.ymgme.2013.04.004. Epub 2013 Apr 10.

PMID:
23628460
7.

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.

Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):285-94. doi: 10.1002/ajmg.c.31347. Epub 2012 Oct 5. Review.

8.

Adrenal function in Smith-Lemli-Opitz syndrome.

Bianconi SE, Conley SK, Keil MF, Sinaii N, Rother KI, Porter FD, Stratakis CA.

Am J Med Genet A. 2011 Nov;155A(11):2732-8. doi: 10.1002/ajmg.a.34271. Epub 2011 Oct 11.

9.

Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.

Horvat S, McWhir J, Rozman D.

Drug Metab Rev. 2011 Feb;43(1):69-90. doi: 10.3109/03602532.2010.540580. Review.

PMID:
21247357
10.

46,XY DSD due to impaired androgen production.

Mendonca BB, Costa EM, Belgorosky A, Rivarola MA, Domenice S.

Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):243-62. doi: 10.1016/j.beem.2009.11.003. Review.

PMID:
20541150
11.

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

Tierney E, Conley SK, Goodwin H, Porter FD.

Am J Med Genet A. 2010 Jan;152A(1):91-5. doi: 10.1002/ajmg.a.33148.

12.

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.

Chan YM, Merkens LS, Connor WE, Roullet JB, Penfield JA, Jordan JM, Steiner RD, Jones PJ.

Pediatr Res. 2009 Jun;65(6):681-5. doi: 10.1203/PDR.0b013e31819ea4eb.

13.

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.

Szabó GP, Oláh AV, Kozak L, Balogh E, Nagy A, Blahakova I, Oláh E.

Eur J Pediatr. 2010 Jan;169(1):121-3. doi: 10.1007/s00431-009-0987-z. Epub 2009 Apr 14.

PMID:
19365639
14.

Transport of maternal cholesterol to the fetus is affected by maternal plasma cholesterol concentrations in the golden Syrian hamster.

Burke KT, Colvin PL, Myatt L, Graf GA, Schroeder F, Woollett LA.

J Lipid Res. 2009 Jun;50(6):1146-55. doi: 10.1194/jlr.M800538-JLR200. Epub 2009 Jan 3.

15.
16.

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome.

Lindegaard ML, Wassif CA, Vaisman B, Amar M, Wasmuth EV, Shamburek R, Nielsen LB, Remaley AT, Porter FD.

Hum Mol Genet. 2008 Dec 1;17(23):3806-13. doi: 10.1093/hmg/ddn278. Epub 2008 Sep 5.

17.

G-tubes and skin care, oh my!

Vukson K.

Gastroenterol Nurs. 2008 Jul-Aug;31(4):305-6. doi: 10.1097/01.SGA.0000334039.17173.7d. No abstract available.

PMID:
18708837
18.

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
19.

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).

Shackleton CH, Marcos J, Palomaki GE, Craig WY, Kelley RI, Kratz LE, Haddow JE.

Am J Med Genet A. 2007 Sep 15;143A(18):2129-36.

PMID:
17702049
20.

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Haas D, Garbade SF, Vohwinkel C, Muschol N, Trefz FK, Penzien JM, Zschocke J, Hoffmann GF, Burgard P.

J Inherit Metab Dis. 2007 Jun;30(3):375-87. Epub 2007 May 11.

PMID:
17497248
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