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Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplications.

Wegiel J, Flory M, Schanen NC, Cook EH, Nowicki K, Kuchna I, Imaki H, Ma SY, Wegiel J, London E, Casanova MF, Wisniewski T, Brown WT.

Acta Neuropathol Commun. 2015 Oct 13;3:63. doi: 10.1186/s40478-015-0241-z.


Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

Pitcher MR, Herrera JA, Buffington SA, Kochukov MY, Merritt JK, Fisher AR, Schanen NC, Costa-Mattioli M, Neul JL.

Hum Mol Genet. 2015 May 1;24(9):2662-72. doi: 10.1093/hmg/ddv030. Epub 2015 Jan 29.


The link between intraneuronal N-truncated amyloid-β peptide and oxidatively modified lipids in idiopathic autism and dup(15q11.2-q13)/autism.

Frackowiak J, Mazur-Kolecka B, Schanen NC, Brown WT, Wegiel J.

Acta Neuropathol Commun. 2013 Sep 16;1:61. doi: 10.1186/2051-5960-1-61.


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.

Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14.


Abnormal intracellular accumulation and extracellular Aβ deposition in idiopathic and Dup15q11.2-q13 autism spectrum disorders.

Wegiel J, Frackowiak J, Mazur-Kolecka B, Schanen NC, Cook EH Jr, Sigman M, Brown WT, Kuchna I, Wegiel J, Nowicki K, Imaki H, Ma SY, Chauhan A, Chauhan V, Miller DL, Mehta PD, Flory M, Cohen IL, London E, Reisberg B, de Leon MJ, Wisniewski T.

PLoS One. 2012;7(5):e35414. doi: 10.1371/journal.pone.0035414. Epub 2012 May 2.


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

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

J Neuropathol Exp Neurol. 2012 May;71(5):382-97. doi: 10.1097/NEN.0b013e318251f537.


Axonal Localization of transgene mRNA in mature PNS and CNS neurons.

Willis DE, Xu M, Donnelly CJ, Tep C, Kendall M, Erenstheyn M, English AW, Schanen NC, Kirn-Safran CB, Yoon SO, Bassell GJ, Twiss JL.

J Neurosci. 2011 Oct 12;31(41):14481-7. doi: 10.1523/JNEUROSCI.2950-11.2011.


Limited availability of ZBP1 restricts axonal mRNA localization and nerve regeneration capacity.

Donnelly CJ, Willis DE, Xu M, Tep C, Jiang C, Yoo S, Schanen NC, Kirn-Safran CB, van Minnen J, English A, Yoon SO, Bassell GJ, Twiss JL.

EMBO J. 2011 Sep 30;30(22):4665-77. doi: 10.1038/emboj.2011.347.


Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.


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.


Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome.

O'Connor RD, Zayzafoon M, Farach-Carson MC, Schanen NC.

Bone. 2009 Aug;45(2):346-56. doi: 10.1016/j.bone.2009.04.251. Epub 2009 May 3.


The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

Hogart A, Wu D, LaSalle JM, Schanen NC.

Neurobiol Dis. 2010 May;38(2):181-91. doi: 10.1016/j.nbd.2008.08.011. Epub 2008 Sep 18. Review.


Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.

Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM.

J Med Genet. 2009 Feb;46(2):86-93. doi: 10.1136/jmg.2008.061580. Epub 2008 Oct 7.


Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo.

Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL, Czymmek KJ, LaSalle JM, Schanen NC.

J Cell Sci. 2008 Apr 1;121(Pt 7):1128-37. doi: 10.1242/jcs.016865. Epub 2008 Mar 11.


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.


Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13.

Parokonny AS, Wang NJ, Driscoll J, Cuccaro M, Wolpert C, Malone BM, Schanen NC.

Am J Med Genet A. 2007 Oct 15;143A(20):2473-7. No abstract available.


Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.

Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH.

Hum Mol Genet. 2007 Jul 15;16(14):1682-98. Epub 2007 May 21.


Differential distribution of the MeCP2 splice variants in the postnatal mouse brain.

Dragich JM, Kim YH, Arnold AP, Schanen NC.

J Comp Neurol. 2007 Apr 1;501(4):526-42.


Pathophysiological mechanisms for actions of the neurotrophins.

Twiss JL, Chang JH, Schanen NC.

Brain Pathol. 2006 Oct;16(4):320-32. Review.

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