Elsea SH - Search Results

1

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Thaker VV, et al. Among authors: elsea sh. J Clin Endocrinol Metab. 2015 May;100(5):1723-30. doi: 10.1210/jc.2014-4215. Epub 2015 Mar 17. J Clin Endocrinol Metab. 2015. PMID: 25781356 Free PMC article.

2

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH. Girirajan S, et al. Among authors: elsea sh. J Med Genet. 2005 Nov;42(11):820-8. doi: 10.1136/jmg.2005.031211. Epub 2005 Mar 23. J Med Genet. 2005. PMID: 15788730 Free PMC article.

3

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR. Bi W, et al. Among authors: elsea sh. Am J Med Genet A. 2006 Nov 15;140(22):2454-63. doi: 10.1002/ajmg.a.31510. Am J Med Genet A. 2006. PMID: 17041942

4

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Edelman EA, et al. Among authors: elsea sh. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

5

A functional network module for Smith-Magenis syndrome.

Girirajan S, Truong HT, Blanchard CL, Elsea SH. Girirajan S, et al. Among authors: elsea sh. Clin Genet. 2009 Apr;75(4):364-74. doi: 10.1111/j.1399-0004.2008.01135.x. Epub 2009 Feb 19. Clin Genet. 2009. PMID: 19236431

6

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. Among authors: elsea sh. 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.

7

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Williams SR, et al. Among authors: elsea sh. Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578325 Free PMC article.

8

Improved standards for prenatal diagnosis of citrullinemia.

Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR. Miller MJ, et al. Among authors: elsea sh. Mol Genet Metab. 2014 Jul;112(3):205-9. doi: 10.1016/j.ymgme.2014.05.004. Epub 2014 May 16. Mol Genet Metab. 2014. PMID: 24889030

9

Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.

Alaimo JT, Hahn NC, Mullegama SV, Elsea SH. Alaimo JT, et al. Among authors: elsea sh. PLoS One. 2014 Aug 15;9(8):e105077. doi: 10.1371/journal.pone.0105077. eCollection 2014. PLoS One. 2014. PMID: 25127133 Free PMC article.

10

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Posey JE, Burrage LC, Miller MJ, Liu P, Hardison MT, Elsea SH, Sun Q, Yang Y, Willis AS, Schlesinger AE, Bacino CA, Lee BH. Posey JE, et al. Among authors: elsea sh. Mol Genet Metab Rep. 2014;1:176-183. doi: 10.1016/j.ymgmr.2014.03.004. Mol Genet Metab Rep. 2014. PMID: 25419514 Free PMC article.

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