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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2008 | 1 |
2009 | 1 |
2010 | 1 |
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2024 | 0 |
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23.
Hum Mutat. 2017.
PMID: 28940898
Free PMC article.
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Elsea SH, Williams SR.
Elsea SH, et al.
Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827.
Expert Rev Mol Med. 2011.
PMID: 21545756
Review.
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Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.
Burns B, et al.
Hum Mol Genet. 2010 Oct 15;19(20):4026-42. doi: 10.1093/hmg/ddq317. Epub 2010 Jul 27.
Hum Mol Genet. 2010.
PMID: 20663924
Free PMC article.
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Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice.
Girirajan S, Elsea SH.
Girirajan S, et al.
Mamm Genome. 2009 Apr;20(4):247-55. doi: 10.1007/s00335-009-9180-y. Epub 2009 Mar 25.
Mamm Genome. 2009.
PMID: 19319603
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How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.
Girirajan S, et al.
Eur J Hum Genet. 2008 Aug;16(8):941-54. doi: 10.1038/ejhg.2008.21. Epub 2008 Feb 20.
Eur J Hum Genet. 2008.
PMID: 18285828
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