Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 45

1.

15q Duplication Syndrome and Related Disorders.

Finucane BM, Lusk L, Arkilo D, Chamberlain S, Devinsky O, Dindot S, Jeste SS, LaSalle JM, Reiter LT, Schanen NC, Spence SJ, Thibert RL, Calvert G, Luchsinger K, Cook EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Jun 16.

2.

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.

3.

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.

4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

PMID:
17853460
19.

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.

PMID:
17519220
20.

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.

PMID:
17278130
21.

Pathophysiological mechanisms for actions of the neurotrophins.

Twiss JL, Chang JH, Schanen NC.

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

PMID:
17107602
22.
23.

Epigenetics of autism spectrum disorders.

Schanen NC.

Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50. Review.

PMID:
16987877
24.

Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.

Baron CA, Tepper CG, Liu SY, Davis RR, Wang NJ, Schanen NC, Gregg JP.

Hum Mol Genet. 2006 Mar 15;15(6):853-69. Epub 2006 Jan 30.

PMID:
16446308
25.

Does genotype predict phenotype in Rett syndrome?

Ham AL, Kumar A, Deeter R, Schanen NC.

J Child Neurol. 2005 Sep;20(9):768-78. Review.

PMID:
16225834
26.

Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions.

Deidrick KM, Percy AK, Schanen NC, Mamounas L, Maria BL.

J Child Neurol. 2005 Sep;20(9):708-17. No abstract available.

PMID:
16225823
27.

Frasier syndrome comes full circle: genetic studies performed in an original patient.

Wang NJ, Song HR, Schanen NC, Litman NL, Frasier SD.

J Pediatr. 2005 Jun;146(6):843-4.

PMID:
15973330
28.
29.

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.

Hum Genet. 2004 Jul;115(2):104-11. Epub 2004 May 13.

PMID:
15141347
30.

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.

Nat Genet. 2004 Apr;36(4):339-41. Epub 2004 Mar 21. Erratum in: Nat Genet. 2004 May;36(5):540.

PMID:
15034579
31.

Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

Hammer S, Dorrani N, Hartiala J, Stein S, Schanen NC.

Am J Med Genet A. 2003 Oct 15;122A(3):223-6.

PMID:
12966522
32.

Persistent TrkA activity is necessary to maintain transcription in neuronally differentiated PC12 cells.

Chang JH, Mellon E, Schanen NC, Twiss JL.

J Biol Chem. 2003 Oct 31;278(44):42877-85. Epub 2003 Aug 8.

33.

Rett syndrome: clinical manifestations in males with MECP2 mutations.

Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A.

J Child Neurol. 2002 Jan;17(1):20-4.

PMID:
11913564
34.

Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome.

Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC.

Br J Haematol. 2001 Jun;113(4):866-70.

PMID:
11442476
35.
36.

Molecular approaches to the Rett syndrome gene.

Schanen NC.

J Child Neurol. 1999 Dec;14(12):806-14. Review.

PMID:
10614568
37.

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U.

Am J Hum Genet. 1999 Dec;65(6):1520-9.

38.
39.

Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome.

Heidary G, Hampton LL, Schanen NC, Rivkin MJ, Darras BT, Battey J, Francke U.

Am J Med Genet. 1998 Jun 30;78(2):173-5.

PMID:
9674911
40.

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

Schanen NC, Kurczynski TW, Brunelle D, Woodcock MM, Dure LS 4th, Percy AK.

J Child Neurol. 1998 May;13(5):229-31.

PMID:
9620015
41.

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U.

Am J Hum Genet. 1997 Sep;61(3):634-41.

42.

Is Rett syndrome caused by a triplet repeat expansion?

Hofferbert S, Schanen NC, Budden SS, Francke U.

Neuropediatrics. 1997 Jun;28(3):179-83.

PMID:
9266557
44.

Assignment of the 5-hydroxytryptamine (serotonin) receptor 5A gene (HTR5A) to human chromosome band 7q36.1.

Schanen NC, Scherer SW, Tsui LC, Francke U.

Cytogenet Cell Genet. 1996;72(2-3):187-8. No abstract available.

PMID:
8978771
45.

Isolation and characterization of microtubule-associated protein 2 (MAP2) kinase from rat brain.

Schanen NC, Landreth G.

Brain Res Mol Brain Res. 1992 Jun;14(1-2):43-50.

PMID:
1323016

Supplemental Content

Loading ...
Support Center