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Items: 1 to 20 of 237

1.

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.

Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.

J Med Genet. 2010 Apr;47(4):223-9. doi: 10.1136/jmg.2009.068072. Epub 2009 Sep 14.

PMID:
19752160
2.

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
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.

How much is too much? Phenotypic consequences of Rai1 overexpression in mice.

Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.

Eur J Hum Genet. 2008 Aug;16(8):941-54. doi: 10.1038/ejhg.2008.21. Epub 2008 Feb 20.

5.

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
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.

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.

Girirajan S, Elsea SH.

Eur J Med Genet. 2009 Jul-Aug;52(4):224-8. doi: 10.1016/j.ejmg.2008.12.002. Epub 2008 Dec 24.

PMID:
19116176
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.

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

PMID:
15690371
9.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.

J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.

PMID:
21984749
10.

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.

11.

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

Bi W, Yan J, Shi X, Yuva-Paylor LA, Antalffy BA, Goldman A, Yoo JW, Noebels JL, Armstrong DL, Paylor R, Lupski JR.

Hum Mol Genet. 2007 Aug 1;16(15):1802-13. Epub 2007 May 21.

PMID:
17517686
12.

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
13.

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.

14.

Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.

Nakamine A, Ouchanov L, Jiménez P, Manghi ER, Esquivel M, Monge S, Fallas M, Burton BK, Szomju B, Elsea SH, Marshall CR, Scherer SW, McInnes LA.

Am J Med Genet A. 2008 Mar 1;146A(5):636-43.

PMID:
17334992
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.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
17.

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.

Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR.

J Med Genet. 2000 Jun;37(6):428-33.

18.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

19.

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
20.

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

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