SARAH ELSEA to Trans-Activators
This is a "connection" page, showing publications SARAH ELSEA has written about Trans-Activators.
Connection Strength
2.436
-
Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077.
Score: 0.337
-
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012 Jun 08; 90(6):941-9.
Score: 0.288
-
Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Hum Mol Genet. 2010 Oct 15; 19(20):4026-42.
Score: 0.254
-
Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mamm Genome. 2009 Apr; 20(4):247-55.
Score: 0.232
-
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet. 2009 Jul-Aug; 52(4):224-8.
Score: 0.228
-
How much is too much? Phenotypic consequences of Rai1 overexpression in mice. Eur J Hum Genet. 2008 Aug; 16(8):941-54.
Score: 0.215
-
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. Int J Mol Sci. 2015 Apr 07; 16(4):7627-43.
Score: 0.088
-
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. Eur J Hum Genet. 2015 Jun; 23(6):781-9.
Score: 0.085
-
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
Score: 0.072
-
Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways. Expert Rev Mol Med. 2011 Apr 19; 13:e14.
Score: 0.067
-
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. BMC Med Genet. 2010 Oct 08; 11:142.
Score: 0.064
-
A functional network module for Smith-Magenis syndrome. Clin Genet. 2009 Apr; 75(4):364-74.
Score: 0.058
-
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. Genet Test. 2008 Mar; 12(1):67-73.
Score: 0.054
-
Smith-Magenis syndrome. Eur J Hum Genet. 2008 Apr; 16(4):412-21.
Score: 0.054
-
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. Clin Genet. 2007 Jun; 71(6):540-50.
Score: 0.051
-
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med. 2006 Jul; 8(7):417-27.
Score: 0.048
-
Brachydactyly A1: new relatives for old families? J Genet. 2005 Aug; 84(2):95-8.
Score: 0.045
-
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8.
Score: 0.044
-
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet A. 2005 Jan 30; 132A(3):278-82.
Score: 0.043
-
Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.038
-
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 10; 135(10):1161-74.
Score: 0.024
-
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30.
Score: 0.022
-
New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007 Apr; 20(2):125-34.
Score: 0.013
-
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.012