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

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

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.

7

Mutations in RAI1 associated with Smith-Magenis syndrome.

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

8

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

9

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.

10

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

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