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Items: 9

1.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.

Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262.

PMID:
22544363
2.

The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review.

Shelley BP, Robertson MM.

J Neuropsychiatry Clin Neurosci. 2005 Winter;17(1):91-7. Review.

PMID:
15746488
3.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:
18512078
4.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
5.

KANSL1-Related Intellectual Disability Syndrome.

Koolen DA, de Vries BBA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2010 Jan 26 [updated 2013 Jan 10].

6.

If not Angelman, what is it? A review of Angelman-like syndromes.

Tan WH, Bird LM, Thibert RL, Williams CA.

Am J Med Genet A. 2014 Apr;164A(4):975-92. Review.

PMID:
24779060
7.

Velocardiofacial syndrome.

Pike AC, Super M.

Postgrad Med J. 1997 Dec;73(866):771-5. Review.

8.

The genetics of cognitive epigenetics.

Kleefstra T, Schenck A, Kramer JM, van Bokhoven H.

Neuropharmacology. 2014 May;80:83-94. doi: 10.1016/j.neuropharm.2013.12.025. Epub 2014 Jan 13. Review.

PMID:
24434855
9.

ARID1B-mediated disorders: Mutations and possible mechanisms.

Sim JC, White SM, Lockhart PJ.

Intractable Rare Dis Res. 2015 Feb;4(1):17-23. doi: 10.5582/irdr.2014.01021. Review.

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