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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1987 2
1988 1
1991 1
1992 3
1994 2
1995 2
1996 4
1997 2
1998 5
1999 11
2000 9
2001 11
2002 6
2003 5
2004 7
2005 10
2006 5
2007 3
2008 3
2009 2
2010 8
2011 5
2012 8
2013 6
2014 6
2015 6
2016 4
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2023 1
2024 0

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141 results

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Page 1
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemica …
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual d …
Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT. Ballout RA, et al. Cochrane Database Syst Rev. 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. Cochrane Database Syst Rev. 2022. PMID: 36373961 Free PMC article. Review.
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol biosynthesis. ...
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by d …
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. Svoboda MD, et al. 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. Am J Med Genet C Semin Med Genet. 2012. PMID: 23042642 Free PMC article. Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that result …
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB. Nowaczyk MJ, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Am J Med Genet C Semin Med Genet. 2012. PMID: 23059950 Review.
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. ...
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome cause …
Cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome and the seminal contributions of Gerald Salen, MD (1935-2020).
Schaefer EJ, Tint GS, Duell PB, Steiner RD. Schaefer EJ, et al. J Clin Lipidol. 2021 Jul-Aug;15(4):540-544. doi: 10.1016/j.jacl.2021.05.004. Epub 2021 May 28. J Clin Lipidol. 2021. PMID: 34140251 Review.
Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn errors of metabolism. ...
Cerebrotendinous xanthomatosis (CTX), sitosterolemia, and Smith-Lemli Opitz syndrome (SLOS) are rare inborn erro …
DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ, Nakamura LM, Waye JS. Nowaczyk MJ, et al. Clin Invest Med. 2001 Dec;24(6):311-7. Clin Invest Med. 2001. PMID: 11767235 Review. No abstract available.
Cholesterolomics: An update.
Griffiths WJ, Abdel-Khalik J, Yutuc E, Morgan AH, Gilmore I, Hearn T, Wang Y. Griffiths WJ, et al. Anal Biochem. 2017 May 1;524:56-67. doi: 10.1016/j.ab.2017.01.009. Epub 2017 Jan 10. Anal Biochem. 2017. PMID: 28087213 Free PMC article. Review.
These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, motor neuron disease, breast cancer, the lysosomal storage disease Niemann-Pick type C and the autosomal recessive disorder Smith-Le …
These molecular classes are implicated in the aetiology of a diverse array of diseases including autoimmune disease, Parkinson's disease, mo …
The Smith-Lemli-Opitz syndrome.
Kelley RI, Hennekam RC. Kelley RI, et al. J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321. J Med Genet. 2000. PMID: 10807690 Free PMC article. Review.
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. ...Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog em …
The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. ... …
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.
The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Smith-Lemli-Opitz syndrome (SLOS). An attempt to characterize the cognitive and behavioral phenotype of SLOS has iden …
The brain's high concentrations of cholesterol make it especially vulnerable to the cholesterol biosynthetic defect that characterizes Sm …
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.
Porter FD. Porter FD. Eur J Hum Genet. 2008 May;16(5):535-41. doi: 10.1038/ejhg.2008.10. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285838 Review.
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). ...
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol …
141 results