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Items: 15


Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

Miyake K, Yang C, Minakuchi Y, Ohori K, Soutome M, Hirasawa T, Kazuki Y, Adachi N, Suzuki S, Itoh M, Goto Y, Andoh T, Kurosawa H, Oshimura M, Sasaki M, Toyoda A, Kubota T.

PLoS One. 2013 Jun 21;8(6):e66729. doi: 10.1371/journal.pone.0066729. Print 2013. Erratum in: PLoS One. 2014;9(4):e94737.


Epigenomic strategies at the interface of genetic and environmental risk factors for autism.

LaSalle JM.

J Hum Genet. 2013 Jul;58(7):396-401. doi: 10.1038/jhg.2013.49. Epub 2013 May 16. Review.


Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis.

Hung CC, Lin SY, Lin SP, Chen CP, Chen LY, Lee CN, Su YN.

J Mol Diagn. 2011 Nov;13(6):609-13. doi: 10.1016/j.jmoldx.2011.06.005. Epub 2011 Sep 1.


Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.

Hussain Askree S, Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B.

J Mol Diagn. 2011 Jan;13(1):108-12. doi: 10.1016/j.jmoldx.2010.11.006. Epub 2010 Dec 23.


A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Urraca N, Davis L, Cook EH Jr, Schanen NC, Reiter LT.

Genet Test Mol Biomarkers. 2010 Aug;14(4):571-6. doi: 10.1089/gtmb.2010.0030.


Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report.

Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC.

Mol Cytogenet. 2009 Dec 18;2:27. doi: 10.1186/1755-8166-2-27.


Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Li MM, Nimmakayalu MA, Mercer D, Andersson HC, Emanuel BS.

Am J Med Genet A. 2008 Feb 1;146A(3):368-75. doi: 10.1002/ajmg.a.32116.


Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.

Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC.

BMC Genet. 2008 Jan 4;9:2. doi: 10.1186/1471-2156-9-2.


Modulation by decitabine of gene expression and growth of osteosarcoma U2OS cells in vitro and in xenografts: identification of apoptotic genes as targets for demethylation.

Al-Romaih K, Somers GR, Bayani J, Hughes S, Prasad M, Cutz JC, Xue H, Zielenska M, Wang Y, Squire JA.

Cancer Cell Int. 2007 Sep 10;7:14.


Distinct phenotypes distinguish the molecular classes of Angelman syndrome.

Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ.

J Med Genet. 2001 Dec;38(12):834-45.


Methylation matters.

Costello JF, Plass C.

J Med Genet. 2001 May;38(5):285-303. Review.


A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

Buiting K, Dittrich B, Dworniczak B, Lerer I, Abeliovich D, Cottrell S, Temple IK, Harvey JF, Lich C, Gross S, Horsthemke B.

Am J Hum Genet. 1999 Dec;65(6):1588-94.


Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.

LaSalle JM, Ritchie RJ, Glatt H, Lalande M.

Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1675-80.


Prader-Willi syndrome.

Cassidy SB.

J Med Genet. 1997 Nov;34(11):917-23. Review.


Diagnostic testing for Prader-Willi and Angelman syndromes: response.

Smith A, Buchholz T, Robson L.

Am J Hum Genet. 1997 Jul;61(1):241-4. No abstract available.

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