Detalhe da pesquisa
1.
A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Genes Dev
; 38(3-4): 131-150, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453481
2.
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
Hum Mol Genet
; 30(16): 1509-1520, 2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132339
3.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
4.
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
PLoS Genet
; 14(2): e1007243, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29470501
5.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genet Med
; 21(8): 1808-1820, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635621
6.
Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
Proc Natl Acad Sci U S A
; 113(39): 10938-43, 2016 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27621468
7.
ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells.
Nucleic Acids Res
; 44(3): 1118-32, 2016 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481358
8.
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
Hum Mol Genet
; 22(3): 544-57, 2013 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23118352
9.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
BMC Med Genet
; 16: 30, 2015 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943194
10.
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
J Hum Genet
; 60(6): 287-93, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25809938
11.
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Hum Mol Genet
; 21(1): 10-25, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920939
12.
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.
J Med Genet
; 50(2): 99-103, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23243085
13.
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
Nat Genet
; 36(9): 958-60, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15314640
14.
Effects of prolonged wakefulness: the role of PERIOD3 genotypes and personality traits.
Psychol Rep
; 113(2): 540-51, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24597447
15.
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Ital J Pediatr
; 49(1): 127, 2023 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749604
16.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Front Cell Dev Biol
; 11: 1237629, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37635873
17.
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Cancers (Basel)
; 15(7)2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046605
18.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Genes (Basel)
; 13(10)2022 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292759
19.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
Clin Epigenetics
; 14(1): 71, 2022 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35643636
20.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Genes (Basel)
; 12(5)2021 05 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065128