Elsea SH - Search Results

1

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.

Le TN, Williams SR, Alaimo JT, Elsea SH. Le TN, et al. Among authors: elsea sh. Am J Med Genet A. 2019 May;179(5):782-791. doi: 10.1002/ajmg.a.61089. Epub 2019 Mar 7. Am J Med Genet A. 2019. PMID: 30848064 Review.

2

Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

Elsea SH, Juyal RC, Jiralerspong S, Finucane BM, Pandolfo M, Greenberg F, Baldini A, Stover P, Patel PI. Elsea SH, et al. Am J Hum Genet. 1995 Dec;57(6):1342-50. Am J Hum Genet. 1995. PMID: 8533763 Free PMC article.

3

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.

4

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.

Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI. Elsea SH, et al. Am J Med Genet. 1998 Jan 6;75(1):104-8. Am J Med Genet. 1998. PMID: 9450867

5

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI. Elsea SH, et al. Cytogenet Cell Genet. 1997;79(3-4):276-81. doi: 10.1159/000134742. Cytogenet Cell Genet. 1997. PMID: 9605871

6

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. Among authors: elsea sh. 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

7

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.

8

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH. Girirajan S, et al. Among authors: elsea sh. Genet Med. 2006 Jul;8(7):417-27. doi: 10.1097/01.gim.0000228215.32110.89. Genet Med. 2006. PMID: 16845274 Free article.

9

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

10

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Girirajan S, Mendoza-Londono R, Vlangos CN, Dupuis L, Nowak NJ, Bunyan DJ, Hatchwell E, Elsea SH. Girirajan S, et al. Among authors: elsea sh. Am J Med Genet A. 2007 May 1;143A(9):999-1008. doi: 10.1002/ajmg.a.31689. Am J Med Genet A. 2007. PMID: 17431895

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