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Items: 1 to 20 of 34

1.

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, Schütz F, Young JI, Lupski JR, Reymond A, Walz K.

PLoS Biol. 2010 Nov 23;8(11):e1000543. doi: 10.1371/journal.pbio.1000543.

2.

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.

Clin Genet. 2007 Jun;71(6):540-50.

PMID:
17539903
3.

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
4.

Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin.

Carpizo R, Martínez A, Mediavilla D, González M, Abad A, Sánchez-Barceló EJ.

J Pediatr. 2006 Sep;149(3):409-11.

PMID:
16939758
5.

Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.

De Leersnyder H.

Trends Endocrinol Metab. 2006 Sep;17(7):291-8. Epub 2006 Aug 4. Review.

PMID:
16890450
6.

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
7.

Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.

De Leersnyder H, Claustrat B, Munnich A, Verloes A.

Mol Cell Endocrinol. 2006 Jun 27;252(1-2):88-91. Epub 2006 May 24.

PMID:
16723183
8.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC.

Pediatr Neurol. 2006 May;34(5):337-50. Review.

PMID:
16647992
9.

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.

10.

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
11.

Dexras1 potentiates photic and suppresses nonphotic responses of the circadian clock.

Cheng HY, Obrietan K, Cain SW, Lee BY, Agostino PV, Joza NA, Harrington ME, Ralph MR, Penninger JM.

Neuron. 2004 Sep 2;43(5):715-28.

12.

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR.

Am J Hum Genet. 2003 Dec;73(6):1302-15. Epub 2003 Nov 24.

13.

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
15.

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
16.

Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome.

De Leersnyder H, Bresson JL, de Blois MC, Souberbielle JC, Mogenet A, Delhotal-Landes B, Salefranque F, Munnich A.

J Med Genet. 2003 Jan;40(1):74-8. No abstract available.

17.

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

Shaw CJ, Bi W, Lupski JR.

Am J Hum Genet. 2002 Nov;71(5):1072-81. Epub 2002 Oct 9.

18.

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.

Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.

Genome Res. 2002 May;12(5):713-28.

19.

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.

Hum Genet. 2001 Nov;109(5):535-41. Epub 2001 Oct 3.

PMID:
11735029
20.

beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.

De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A.

J Med Genet. 2001 Sep;38(9):586-90.

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