Elsea SH - Search Results

1

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

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

Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.

Elsea SH, Mykytyn K, Ferrell K, Coulter KL, Das P, Dubiel W, Patel PI, Metherall JE. Elsea SH, et al. Am J Med Genet. 1999 Dec 3;87(4):342-8. Am J Med Genet. 1999. PMID: 10588842

6

Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.

Vlangos CN, Das P, Patel PI, Elsea SH. Vlangos CN, et al. Among authors: elsea sh. Cytogenet Cell Genet. 2000;88(3-4):283-5. doi: 10.1159/000015539. Cytogenet Cell Genet. 2000. PMID: 10828610 No abstract available.

7

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.

Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH. Lucas RE, et al. Among authors: elsea sh. Eur J Hum Genet. 2001 Dec;9(12):892-902. doi: 10.1038/sj.ejhg.5200734. Eur J Hum Genet. 2001. PMID: 11840190

8

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. Among authors: elsea sh. Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004. Genet Med. 2002. PMID: 12180145 Free article.

9

Mutations in RAI1 associated with Smith-Magenis syndrome.

Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Slager RE, et al. Among authors: elsea sh. Nat Genet. 2003 Apr;33(4):466-8. doi: 10.1038/ng1126. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652298

10

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Vlangos CN, Yim DK, Elsea SH. Vlangos CN, et al. Among authors: elsea sh. Mol Genet Metab. 2003 Jun;79(2):134-41. doi: 10.1016/s1096-7192(03)00048-9. Mol Genet Metab. 2003. PMID: 12809645

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