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Results: 1 to 20 of 271

1.

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.

Genet Med. 2006 Jul;8(7):417-27.

PMID:
16845274
[PubMed - indexed for MEDLINE]
2.

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

Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH.

J Med Genet. 2005 Nov;42(11):820-8. Epub 2005 Mar 23.

PMID:
15788730
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Potocki L, Shaw CJ, Stankiewicz P, Lupski JR.

Genet Med. 2003 Nov-Dec;5(6):430-4.

PMID:
14614393
[PubMed - indexed for MEDLINE]
4.

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.

Am J Med Genet A. 2005 Jan 30;132A(3):278-82.

PMID:
15690371
[PubMed - indexed for MEDLINE]
5.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, DuPont BR, Walz K, Moretti-Ferreira D, Srivastava AK.

Eur J Hum Genet. 2012 Feb;20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.

PMID:
21897445
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.

Schoumans J, Staaf J, Jönsson G, Rantala J, Zimmer KS, Borg A, Nordenskjöld M, Anderlid BM.

Eur J Med Genet. 2005 Jul-Sep;48(3):290-300.

PMID:
16179224
[PubMed - indexed for MEDLINE]
7.

Smith-Magenis syndrome.

Elsea SH, Girirajan S.

Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Review.

PMID:
18231123
[PubMed - indexed for MEDLINE]
Free Article
8.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.

Hum Genet. 2004 Nov;115(6):515-24. Epub 2004 Sep 30.

PMID:
15565467
[PubMed - indexed for MEDLINE]
9.

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.

PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8.

PMID:
21857958
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Mutations in RAI1 associated with Smith-Magenis syndrome.

Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH.

Nat Genet. 2003 Apr;33(4):466-8. Epub 2003 Mar 24.

PMID:
12652298
[PubMed - indexed for MEDLINE]
11.

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

Truong HT, Dudding T, Blanchard CL, Elsea SH.

BMC Med Genet. 2010 Oct 8;11:142. doi: 10.1186/1471-2350-11-142. Review.

PMID:
20932317
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.

PMID:
17041942
[PubMed - indexed for MEDLINE]
13.

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

Gropman AL, Elsea S, Duncan WC Jr, Smith AC.

Curr Opin Neurol. 2007 Apr;20(2):125-34. Review.

PMID:
17351481
[PubMed - indexed for MEDLINE]
14.

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP.

J Med Genet. 2007 Aug;44(8):537-40. Epub 2007 Apr 27.

PMID:
17468296
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.

Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.

Hum Mol Genet. 2004 Nov 1;13(21):2613-24. Epub 2004 Sep 30.

PMID:
15459175
[PubMed - indexed for MEDLINE]
Free Article
16.

Smith-Magenis syndrome and growth hormone deficiency.

Spadoni E, Colapietro P, Bozzola M, Marseglia GL, Repossi L, Danesino C, Larizza L, Maraschio P.

Eur J Pediatr. 2004 Jul;163(7):353-8. Epub 2004 May 8.

PMID:
15138811
[PubMed - indexed for MEDLINE]
17.

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.

Mol Genet Metab. 2003 Jun;79(2):134-41.

PMID:
12809645
[PubMed - indexed for MEDLINE]
18.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.

Dubourg C, Bonnet-Brilhault F, Toutain A, Mignot C, Jacquette A, Dieux A, Gérard M, Beaumont-Epinette MP, Julia S, Isidor B, Rossi M, Odent S, Bendavid C, Barthélémy C, Verloes A, David V.

Mol Syndromol. 2014 Feb;5(2):57-64. doi: 10.1159/000357359. Epub 2014 Jan 7.

PMID:
24715852
[PubMed]
Free PMC Article
19.

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.

Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR.

Hum Mol Genet. 2005 Apr 15;14(8):983-95. Epub 2005 Mar 3.

PMID:
15746153
[PubMed - indexed for MEDLINE]
Free Article
20.

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Elsea SH, Williams SR.

Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827. Review.

PMID:
21545756
[PubMed - indexed for MEDLINE]

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