Elsea S - Search Results

1

New developments in Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Elsea S, Duncan WC Jr, Smith AC. Gropman AL, et al. Among authors: elsea s. Curr Opin Neurol. 2007 Apr;20(2):125-34. doi: 10.1097/WCO.0b013e3280895dba. Curr Opin Neurol. 2007. PMID: 17351481 Review.

2

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Smith AC, et al. Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004. Genet Med. 2002. PMID: 12180145 Free article.

3

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Vlangos CN, et al. Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371

4

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Truong HT, et al. Among authors: elsea sh. Genet Test. 2008 Mar;12(1):67-73. doi: 10.1089/gte.2007.0058. Genet Test. 2008. PMID: 18373405

5

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

6

Overview of Smith-Magenis syndrome.

Smith AC, Magenis RE, Elsea SH. Smith AC, et al. J Assoc Genet Technol. 2005;31(4):163-7. J Assoc Genet Technol. 2005. PMID: 16354942

7

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Chen L, et al. Among authors: elsea sh. 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.

8

Smith-Magenis syndrome.

Elsea SH, Girirajan S. Elsea SH, et al. Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Eur J Hum Genet. 2008. PMID: 18231123 Review.

9

Behavior and sleep disturbance in Smith-Magenis syndrome.

Shayota BJ, Elsea SH. Shayota BJ, et al. Curr Opin Psychiatry. 2019 Mar;32(2):73-78. doi: 10.1097/YCO.0000000000000474. Curr Opin Psychiatry. 2019. PMID: 30557269 Free PMC article. Review.

10

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A, Patel PI. Juyal RC, et al. Among authors: elsea sh. Am J Hum Genet. 1996 May;58(5):998-1007. Am J Hum Genet. 1996. PMID: 8651284 Free PMC article.

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