Published articles related to dup15q syndrome

June 30, 2014
Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes

Boronat SMehan WAShaaya EAThibert RL, Caruso P

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May 12, 2014
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2

Chaste P1, Sanders SJMohan KNKlei L, Song Y, Murtha MT, Hus V, Lowe JKWillsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE,Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cookk EH Jr, Kim SJ. 

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March 1, 2014
A survey of seizures and current treatments in 15q duplication syndrome

Conant KDFinucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence, SJSchanen C, Devinsky O, Cook EH, LaSalle J, Reiter, LT, Thibert RL

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October 1, 2013
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Moreno-De-Luca D1, Sanders SJWillsey AJMulle JG, Lowe JKGeschwind DH, State MW, Martin CL, Ledbetter DH.

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August 1, 2013
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature

Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT

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July 1, 2013
Prevalence of selected genomic deletions and duplications in a French–Canadian population-based sample of newborns

Tucker T, Giroux S, Clément V, Langlois, S, Friedman J, Rousseau F

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October 1, 2012
Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder

Mitchell MM, Woods R, Chi LH, Schmidt RJ, Pessah IN, Kostyniak PJ, LaSalle JM

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May 7, 2012
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.

Wegiel JSchanen NC, Cook EH, Sigman M, Brown WT, Kucha I, Nowicki K, Wegiel J, Imaki H, Ma SY, Marchi E, Wierzba-Bobrowicz T, Chauhan A, Chauhan V, Cohen V, Cohen IL, London E, Flory M, Lach B, Wisniewski T.

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May 1, 2012
Abnormal Intracellular Accumulation and Extracellular Aβ Deposition in Idiopathic and Dup15q11.2-q13 Autism Spectrum Disorders

Wegiel JFrackowiak JMazur-Kolecka BSchanen NC, Cook Jr E, Sigman M, Brown WT, Kuchna I, Wegiel J, Nowicki K, Imaki H, Yong Ma S, Chauhan A, Chauhan V, Miller D, Mehta P, Flory M, Cohen I, London E, Reisberg Bde Leon M, and Wisniewski T

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December 12, 2011
Increased copy number for methylated 15q duplications leads to changes in gene and protein expression in human cortical samples

Scoles HA, Urraca N, Chadwick SW, Reiter LT, Lasalle JM

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