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Items: 1 to 20 of 140

1.

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
2.

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
3.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
4.

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.

Inborn errors of cholesterol biosynthesis.

Kelley RI.

Adv Pediatr. 2000;47:1-53. Review.

PMID:
10959439
7.

Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome.

Elias ER, Irons M.

Curr Opin Pediatr. 1995 Dec;7(6):710-4. Review.

PMID:
8776024
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.

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Nowaczyk MJ, Whelan DT, Heshka TW, Hill RE.

CMAJ. 1999 Jul 27;161(2):165-70. Review.

10.

Photomedicine: lessons from the Smith-Lemli-Opitz syndrome.

Anstey A.

J Photochem Photobiol B. 2001 Sep 15;62(3):123-7. Review.

PMID:
11566274
11.

Human malformation syndromes due to inborn errors of cholesterol synthesis.

Porter FD.

Curr Opin Pediatr. 2003 Dec;15(6):607-13. Review.

PMID:
14631207
12.

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
13.

Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.

Diaz-Stransky A, Tierney E.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):295-300. doi: 10.1002/ajmg.c.31342. Epub 2012 Oct 5. Review.

PMID:
23042585
14.

[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options].

Oberthür A, Heller R, Vogel M, Körber F, Rahimi G, Hoopmann M, Emmel M, Roth B, Vierzig A.

Z Geburtshilfe Neonatol. 2009 Oct;213(5):210-4. doi: 10.1055/s-0029-1224190. Epub 2009 Oct 23. Review. German.

PMID:
19856245
15.

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
16.

Smith-Lemli-Opitz syndrome: a review, case report and dental implications.

Muzzin KB, Harper LF.

Spec Care Dentist. 2003;23(1):22-7. Review.

PMID:
12887150
17.

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G.

Am J Med Genet A. 2005 Jan 15;132A(2):144-51. Review.

PMID:
15580635
18.

[Sixty years of autism].

van Berckelaer-Onnes IA.

Ned Tijdschr Geneeskd. 2004 May 22;148(21):1024-30. Review. Dutch.

PMID:
15185436
19.

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

Correa-Cerro LS, Porter FD.

Mol Genet Metab. 2005 Feb;84(2):112-26. Epub 2004 Dec 19. Review.

PMID:
15670717
20.

The Smith-Lemli-Opitz syndrome.

Kelley RI, Hennekam RC.

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

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