SARAH ELSEA to Smith-Magenis Syndrome
This is a "connection" page, showing publications SARAH ELSEA has written about Smith-Magenis Syndrome.
Connection Strength
4.924
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Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD. J Autism Dev Disord. 2021 Jun; 51(6):1852-1865.
Score: 0.677
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Behavior and sleep disturbance in Smith-Magenis syndrome. Curr Opin Psychiatry. 2019 03; 32(2):73-78.
Score: 0.579
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Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome. Res Dev Disabil. 2015 Dec; 47:27-38.
Score: 0.454
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Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience. Dev Period Med. 2015 Apr-Jun; 19(2):149-56.
Score: 0.441
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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: 0.426
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Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. J Intellect Disabil Res. 2012 Oct; 56(10):996-1007.
Score: 0.363
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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: 0.361
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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: 0.335
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Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome. Res Dev Disabil. 2022 Aug; 127:104257.
Score: 0.181
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Tasimelteon safely and effectively improves sleep in Smith-Magenis syndrome: a double-blind randomized trial followed by an open-label extension. Genet Med. 2021 12; 23(12):2426-2432.
Score: 0.171
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730.
Score: 0.159
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.145
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Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1344-1350.e3.
Score: 0.126
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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: 0.120
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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: 0.110
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Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077.
Score: 0.106
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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: 0.091
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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. Hum Mol Genet. 2010 Oct 15; 19(20):4026-42.
Score: 0.080