Detalhe da pesquisa
1.
Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study.
Hum Mol Genet
; 28(16): 2659-2674, 2019 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31009952
2.
Prader-Willi locus Snord116 RNA processing requires an active endogenous allele and neuron-specific splicing by Rbfox3/NeuN.
Hum Mol Genet
; 27(23): 4051-4060, 2018 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30124848
3.
MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome.
Hum Mol Genet
; 27(23): 4077-4093, 2018 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30137367
4.
Early motor phenotype detection in a female mouse model of Rett syndrome is improved by cross-fostering.
Hum Mol Genet
; 26(10): 1839-1854, 2017 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28334953
5.
Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome.
Neurobiol Learn Mem
; 165: 106874, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29800646
6.
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.
Hum Mol Genet
; 25(15): 3284-3302, 2016 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27365498
7.
MeCP2 regulates activity-dependent transcriptional responses in olfactory sensory neurons.
Hum Mol Genet
; 23(23): 6366-74, 2014 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25008110
8.
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.
Hum Mol Genet
; 23(9): 2447-58, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24352790
9.
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation.
Proc Natl Acad Sci U S A
; 110(34): 13938-43, 2013 Aug 20.
Artigo
Inglês
| MEDLINE | ID: mdl-23918391
10.
A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.
Hum Mol Genet
; 22(21): 4318-28, 2013 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23771028
11.
Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation.
Hum Mol Genet
; 21(11): 2399-411, 2012 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22343140
12.
Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression.
bioRxiv
; 2024 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38798575
13.
Integration of CTCF Loops, Methylome, and Transcriptome in Differentiating LUHMES as a Model for Imprinting Dynamics of the 15q11-q13 Locus in Human Neurons.
bioRxiv
; 2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38586056
14.
Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.
Hum Mol Genet
; 20(19): 3798-810, 2011 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21725066
15.
15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.
Hum Mol Genet
; 20(22): 4311-23, 2011 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21840925
16.
Placenta and fetal brain share a neurodevelopmental disorder DNA methylation profile in a mouse model of prenatal PCB exposure.
Cell Rep
; 38(9): 110442, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35235788
17.
Placental methylome reveals a 22q13.33 brain regulatory gene locus associated with autism.
Genome Biol
; 23(1): 46, 2022 02 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35168652
18.
MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.
Neurobiol Dis
; 43(1): 190-200, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21420494
19.
Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism.
Hum Mol Genet
; 18(3): 525-34, 2009 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19000991
20.
Investigation of modifier genes within copy number variations in Rett syndrome.
J Hum Genet
; 56(7): 508-15, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21593744