Similar articles for PMID: 16761297

Year	Number of Results
1995	3
1996	2
1998	4
1999	4
2000	12
2001	5
2002	3
2003	5
2004	4
2005	8
2006	6
2007	3
2008	11
2009	7
2010	4
2011	8
2012	8
2013	15
2014	6
2015	3
2016	6
2017	4
2018	3
2019	4
2020	3
2021	6
2022	7
2023	5
2024	0

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. Sikora DM, et al. Am J Med Genet A. 2006 Jul 15;140(14):1511-8. doi: 10.1002/ajmg.a.31294. Am J Med Genet A. 2006. PMID: 16761297

2

Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Kelley RI. Tierney E, et al. Ment Retard Dev Disabil Res Rev. 2000;6(2):131-4. doi: 10.1002/1098-2779(2000)6:2<131::AID-MRDD7>3.0.CO;2-R. Ment Retard Dev Disabil Res Rev. 2000. PMID: 10899806 Review.

3

Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production.

Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE. Steiner RD, et al. J Lipid Res. 2000 Sep;41(9):1437-47. J Lipid Res. 2000. PMID: 10974051 Free article.

4

Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing.

Kaub PA, Sharp PC, Ranieri E, Fletcher JM. Kaub PA, et al. J Paediatr Child Health. 2022 Apr;58(4):630-635. doi: 10.1111/jpc.15795. Epub 2021 Nov 12. J Paediatr Child Health. 2022. PMID: 34773316

5

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.

Anderson AJ, Stephan MJ, Walker WO, Kelley RI. Anderson AJ, et al. Am J Med Genet. 1998 Aug 6;78(5):413-8. doi: 10.1002/(sici)1096-8628(19980806)78:5<413::aid-ajmg4>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9714006

6

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

Ginat S, Battaile KP, Battaile BC, Maslen C, Gibson KM, Steiner RD. Ginat S, et al. Mol Genet Metab. 2004 Sep-Oct;83(1-2):175-83. doi: 10.1016/j.ymgme.2004.07.002. Mol Genet Metab. 2004. PMID: 15464432

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. Thurm A, et al. J Neurodev Disord. 2016 Apr 5;8:12. doi: 10.1186/s11689-016-9145-x. eCollection 2016. J Neurodev Disord. 2016. PMID: 27053961 Free PMC article.

8

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

Diaz-Stransky A, Tierney E. Diaz-Stransky A, et al. 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. Am J Med Genet C Semin Med Genet. 2012. PMID: 23042585 Review.

9

Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

Linck LM, Lin DS, Flavell D, Connor WE, Steiner RD. Linck LM, et al. Am J Med Genet. 2000 Aug 28;93(5):360-5. doi: 10.1002/1096-8628(20000828)93:5<360::aid-ajmg4>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10951458

10

Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Marcos J, Shackleton CH, Buddhikot MM, Porter FD, Watson GL. Marcos J, et al. Steroids. 2007 Oct;72(11-12):802-8. doi: 10.1016/j.steroids.2007.07.002. Epub 2007 Jul 13. Steroids. 2007. PMID: 17714750 Free PMC article.

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