Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 64

1.

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Movassaghi M, Bianconi S, Feinn R, Wassif CA, Porter FD.

Am J Med Genet A. 2017 Oct;173(10):2577-2583. doi: 10.1002/ajmg.a.38361. Epub 2017 Aug 10.

PMID:
28796426
2.

The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper.

Gillberg C, Fernell E, Kočovská E, Minnis H, Bourgeron T, Thompson L, Allely CS.

Autism Res. 2017 Jun;10(6):1022-1044. doi: 10.1002/aur.1777. Epub 2017 Apr 12. Review.

3.

Modulated DISP3/PTCHD2 expression influences neural stem cell fate decisions.

Konířová J, Oltová J, Corlett A, Kopycińska J, Kolář M, Bartůněk P, Zíková M.

Sci Rep. 2017 Jan 30;7:41597. doi: 10.1038/srep41597.

4.

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.

Genet Med. 2017 Mar;19(3):297-305. doi: 10.1038/gim.2016.102. Epub 2016 Aug 11.

5.

7-dehydrocholesterol efficiently supports Ret signaling in a mouse model of Smith-Opitz-Lemli syndrome.

Gou-Fàbregas M, Macià A, Anerillas C, Vaquero M, Jové M, Jain S, Ribera J, Encinas M.

Sci Rep. 2016 Jun 23;6:28534. doi: 10.1038/srep28534.

6.

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Cologna SM, Shieh C, Toth CL, Cougnoux A, Burkert KR, Bianconi SE, Wassif CA, Porter FD.

Am J Med Genet A. 2016 Aug;170(8):2060-2068. doi: 10.1002/ajmg.a.37720. Epub 2016 May 5.

7.

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.

8.

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Francis KR, Ton AN, Xin Y, O'Halloran PE, Wassif CA, Malik N, Williams IM, Cluzeau CV, Trivedi NS, Pavan WJ, Cho W, Westphal H, Porter FD.

Nat Med. 2016 Apr;22(4):388-96. doi: 10.1038/nm.4067. Epub 2016 Mar 21.

9.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

Tucci A, Ronzoni L, Arduino C, Salmin P, Esposito S, Milani D.

BMC Med Genet. 2016 Mar 11;17:22. doi: 10.1186/s12881-016-0287-1.

10.

Identification of Environmental Quaternary Ammonium Compounds as Direct Inhibitors of Cholesterol Biosynthesis.

Herron J, Reese RC, Tallman KA, Narayanaswamy R, Porter NA, Xu L.

Toxicol Sci. 2016 Jun;151(2):261-70. doi: 10.1093/toxsci/kfw041. Epub 2016 Feb 26.

11.

The Implicitome: A Resource for Rationalizing Gene-Disease Associations.

Hettne KM, Thompson M, van Haagen HH, van der Horst E, Kaliyaperumal R, Mina E, Tatum Z, Laros JF, van Mulligen EM, Schuemie M, Aten E, Li TS, Bruskiewich R, Good BM, Su AI, Kors JA, den Dunnen J, van Ommen GJ, Roos M, 't Hoen PA, Mons B, Schultes EA.

PLoS One. 2016 Feb 26;11(2):e0149621. doi: 10.1371/journal.pone.0149621. eCollection 2016.

12.

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.

13.

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Bianconi SE, Cross JL, Wassif CA, Porter FD.

Expert Opin Orphan Drugs. 2015 Mar;3(3):267-280.

14.

Tunneling in tocopherol-mediated peroxidation of 7-dehydrocholesterol.

Muchalski H, Xu L, Porter NA.

Org Biomol Chem. 2015 Jan 28;13(4):1249-53. doi: 10.1039/c4ob02377c. Epub 2014 Dec 1.

15.

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Petryk A, Graf D, Marcucio R.

Wiley Interdiscip Rev Dev Biol. 2015 Jan-Feb;4(1):17-32. doi: 10.1002/wdev.161. Epub 2014 Oct 22. Review.

16.

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

Witsch-Baumgartner M, Lanthaler B.

Eur J Hum Genet. 2015 Mar;23(3):277-8. doi: 10.1038/ejhg.2014.87. Epub 2014 May 14. No abstract available.

17.

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.

18.

Association between vitamin D metabolism gene polymorphisms and risk of islet autoimmunity and progression to type 1 diabetes: the diabetes autoimmunity study in the young (DAISY).

Frederiksen BN, Kroehl M, Fingerlin TE, Wong R, Steck AK, Rewers M, Norris JM.

J Clin Endocrinol Metab. 2013 Nov;98(11):E1845-51. doi: 10.1210/jc.2013-2256. Epub 2013 Aug 26.

19.

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Lee RW, Conley SK, Gropman A, Porter FD, Baker EH.

Am J Med Genet A. 2013 Oct;161A(10):2407-19. doi: 10.1002/ajmg.a.36096. Epub 2013 Aug 5.

20.

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.

Supplemental Content

Support Center