Schanen NC - Search Results

1

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. Wegiel J, et al. Among authors: schanen nc. J Neuropathol Exp Neurol. 2012 May;71(5):382-97. doi: 10.1097/NEN.0b013e318251f537. J Neuropathol Exp Neurol. 2012. PMID: 22487857 Free PMC article.

2

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. Wegiel J, et al. Among authors: schanen nc. PLoS One. 2012;7(5):e35414. doi: 10.1371/journal.pone.0035414. Epub 2012 May 2. PLoS One. 2012. PMID: 22567102 Free PMC article.

3

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. Frackowiak J, et al. Among authors: schanen nc. Acta Neuropathol Commun. 2013 Sep 16;1:61. doi: 10.1186/2051-5960-1-61. Acta Neuropathol Commun. 2013. PMID: 24252310 Free PMC article.

4

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. Wegiel J, et al. Among authors: schanen nc. Acta Neuropathol Commun. 2015 Oct 13;3:63. doi: 10.1186/s40478-015-0241-z. Acta Neuropathol Commun. 2015. PMID: 26463344 Free PMC article.

5

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. Urraca N, et al. Among authors: schanen nc. Genet Test Mol Biomarkers. 2010 Aug;14(4):571-6. doi: 10.1089/gtmb.2010.0030. Genet Test Mol Biomarkers. 2010. PMID: 20642357 Free PMC article.

6

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. Wang NJ, et al. Among authors: schanen nc. BMC Genet. 2008 Jan 4;9:2. doi: 10.1186/1471-2156-9-2. BMC Genet. 2008. PMID: 18177502 Free PMC article.

7

Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy.

Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, Dorrani N, Sigman M, Schanen NC. Mann SM, et al. Among authors: schanen nc. Hum Genet. 2004 Jul;115(2):104-11. doi: 10.1007/s00439-004-1127-5. Epub 2004 May 13. Hum Genet. 2004. PMID: 15141347

8

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. Wu DJ, et al. Among authors: schanen nc. Mol Cytogenet. 2009 Dec 18;2:27. doi: 10.1186/1755-8166-2-27. Mol Cytogenet. 2009. PMID: 20021661 Free PMC article.

9

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. Nishimura Y, et al. Among authors: schanen nc. Hum Mol Genet. 2007 Jul 15;16(14):1682-98. doi: 10.1093/hmg/ddm116. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17519220

10

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. Urraca N, et al. Among authors: schanen nc. Autism Res. 2013 Aug;6(4):268-79. doi: 10.1002/aur.1284. Epub 2013 Mar 14. Autism Res. 2013. PMID: 23495136 Free PMC article.

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