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Items: 1 to 20 of 31

1.

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD.

Am J Hum Genet. 1998 Jul;63(1):55-62.

2.

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Correa-Cerro LS, Porter FD.

Mol Genet Metab. 2005 Feb;84(2):112-26. Review.

PMID:
15670717
4.

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H, Patel SB.

Clin Genet. 2005 Nov;68(5):383-91. Review. Erratum in: Clin Genet. 2005 Dec;68(6):570.

5.

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR, Hennekam RC.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):263-84. doi: 10.1002/ajmg.c.31346. Review.

PMID:
23042628
6.

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.

Waterham HR, Wanders RJ.

Biochim Biophys Acta. 2000 Dec 15;1529(1-3):340-56. Review.

PMID:
11111101
7.
8.

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.

Battaile KP, Steiner RD.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):154-62. Review. Erratum in: Mol Genet Metab 2001 May;73(1):114-5.

PMID:
11001806
9.

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.

Salen G, Shefer S, Batta AK, Tint GS, Xu G, Honda A, Irons M, Elias ER.

J Lipid Res. 1996 Jun;37(6):1169-80. Review.

10.

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA.

Ann Hum Genet. 2003 May;67(Pt 3):269-80. Review.

PMID:
12914579
11.

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.

Shinawi M, Szabo S, Popek E, Wassif CA, Porter FD, Potocki L.

Am J Med Genet A. 2005 Sep 15;138(1):56-60. Review.

PMID:
16097001
12.

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

Porter FD.

Eur J Hum Genet. 2008 May;16(5):535-41. doi: 10.1038/ejhg.2008.10. Review.

13.

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Nowaczyk MJ, Irons MB.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Review.

PMID:
23059950
14.

Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.

Fitzky BU, Glossmann H, Utermann G, Moebius FF.

Curr Opin Lipidol. 1999 Apr;10(2):123-31. Review.

PMID:
10327280
15.

Smith-Lemli-Opitz syndrome.

DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD.

Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Review.

16.

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].

Koczok K, V Oláh A, P Szabó G, Oláh É, Török O, Balogh I.

Orv Hetil. 2015 Oct 18;156(42):1695-702. doi: 10.1556/650.2015.30256. Review. Hungarian.

PMID:
26551309
17.

RSH (so-called Smith-Lemli-Opitz) syndrome.

Opitz JM.

Curr Opin Pediatr. 1999 Aug;11(4):353-62. Review.

PMID:
10439210
18.

The Smith-Lemli-Opitz syndrome.

Kelley RI, Hennekam RC.

J Med Genet. 2000 May;37(5):321-35. Review.

19.

Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.

J Steroid Biochem Mol Biol. 2016 Mar 11. pii: S0960-0760(16)30064-4. doi: 10.1016/j.jsbmb.2016.03.018. [Epub ahead of print] Review.

20.

Retinal degeneration in a rat model of Smith-Lemli-Opitz Syndrome: thinking beyond cholesterol deficiency.

Fliesler SJ.

Adv Exp Med Biol. 2010;664:481-9. doi: 10.1007/978-1-4419-1399-9_55. Review.

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