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Items: 1 to 20 of 210

1.

Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples.

Thatcher KN, Peddada S, Yasui DH, Lasalle JM.

Hum Mol Genet. 2005 Mar 15;14(6):785-97. Epub 2005 Feb 2.

PMID:
15689352
2.
3.

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Ballestar E, Ropero S, Alaminos M, Armstrong J, Setien F, Agrelo R, Fraga MF, Herranz M, Avila S, Pineda M, Monros E, Esteller M.

Hum Genet. 2005 Jan;116(1-2):91-104. Epub 2004 Nov 11.

PMID:
15549394
4.
5.

Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders.

Samaco RC, Nagarajan RP, Braunschweig D, LaSalle JM.

Hum Mol Genet. 2004 Mar 15;13(6):629-39. Epub 2004 Jan 20.

PMID:
14734626
6.

Rett syndrome: of girls and mice--lessons for regression in autism.

Glaze DG.

Ment Retard Dev Disabil Res Rev. 2004;10(2):154-8. Review.

PMID:
15362175
7.

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.

Chen RZ, Akbarian S, Tudor M, Jaenisch R.

Nat Genet. 2001 Mar;27(3):327-31.

PMID:
11242118
8.

MeCP2 in neurons: closing in on the causes of Rett syndrome.

Caballero IM, Hendrich B.

Hum Mol Genet. 2005 Apr 15;14 Spec No 1:R19-26. Review. Erratum in: Hum Mol Genet. 2005 Jul 15;14(14):2089.

PMID:
15809268
9.

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D.

Pediatr Neurol. 2005 May;32(5):355-7.

PMID:
15866439
10.

15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.

Yasui DH, Scoles HA, Horike S, Meguro-Horike M, Dunaway KW, Schroeder DI, Lasalle JM.

Hum Mol Genet. 2011 Nov 15;20(22):4311-23. doi: 10.1093/hmg/ddr357. Epub 2011 Aug 12.

11.

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.

Wan M, Zhao K, Lee SS, Francke U.

Hum Mol Genet. 2001 May 1;10(10):1085-92.

PMID:
11331619
12.

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

Balmer D, Arredondo J, Samaco RC, LaSalle JM.

Hum Genet. 2002 Jun;110(6):545-52. Epub 2002 Apr 25.

PMID:
12107440
13.

X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.

Braunschweig D, Simcox T, Samaco RC, LaSalle JM.

Hum Mol Genet. 2004 Jun 15;13(12):1275-86. Epub 2004 Apr 28.

PMID:
15115765
14.

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.

Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY.

Hum Mol Genet. 2002 Jan 15;11(2):115-24.

PMID:
11809720
15.

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY.

Hum Mol Genet. 2005 Jan 15;14(2):205-20. Epub 2004 Nov 17.

PMID:
15548546
16.

MeCP2 involvement in the regulation of neuronal alpha-tubulin production.

Abuhatzira L, Shemer R, Razin A.

Hum Mol Genet. 2009 Apr 15;18(8):1415-23. doi: 10.1093/hmg/ddp048. Epub 2009 Jan 27.

PMID:
19174478
17.

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.

Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S.

Brain Dev. 2005 Aug;27(5):331-9.

PMID:
16023547
18.

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders.

Hogart A, Nagarajan RP, Patzel KA, Yasui DH, Lasalle JM.

Hum Mol Genet. 2007 Mar 15;16(6):691-703. Epub 2007 Mar 5.

20.

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome.

Horike S, Cai S, Miyano M, Cheng JF, Kohwi-Shigematsu T.

Nat Genet. 2005 Jan;37(1):31-40. Epub 2004 Dec 19.

PMID:
15608638

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