Detalhe da pesquisa
1.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet
; 61(6): 590-594, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228391
2.
Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
J Med Genet
; 58(6): 422-425, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32447322
3.
DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
FASEB J
; 34(1): 960-973, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31914674
4.
Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 185(10): 3062-3067, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037318
5.
The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome.
J Hum Genet
; 64(9): 937-943, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235774
6.
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Hum Mol Genet
; 25(7): 1406-19, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908620
7.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genet Med
; 16(12): 903-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24810686
8.
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.
BMC Cancer
; 13: 608, 2013 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373183
9.
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 158A(7): 1670-5, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22577095
10.
Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.
Clin Epigenetics
; 14(1): 64, 2022 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581658
11.
Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome.
Pediatr Blood Cancer
; 55(4): 733-5, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20589645
12.
MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products.
Genes Genet Syst
; 83(2): 199-208, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18506103
13.
Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted Zrsr1-DMR.
Epigenetics Chromatin
; 11(1): 28, 2018 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875017
14.
Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.
Clin Epigenetics
; 10(1): 150, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30509319
15.
Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.
Eur J Hum Genet
; 15(12): 1205-10, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17700627
16.
Retinoic acid receptor beta2 is epigenetically silenced either by DNA methylation or repressive histone modifications at the promoter in cervical cancer cells.
Cancer Lett
; 247(2): 318-27, 2007 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-16806674
17.
The mouse Murr1 gene is imprinted in the adult brain, presumably due to transcriptional interference by the antisense-oriented U2af1-rs1 gene.
Mol Cell Biol
; 24(1): 270-9, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14673161
18.
Comparative analyses of genomic imprinting and CpG island-methylation in mouse Murr1 and human MURR1 loci revealed a putative imprinting control region in mice.
Gene
; 366(1): 77-86, 2006 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-16305817
19.
The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.
Gene
; 583(2): 141-146, 2016 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911255
20.
A developmental biological study of aldolase gene expression in Xenopus laevis.
Cell Res
; 12(2): 85-96, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12118943