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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34132339
2.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35842840
3.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
J Med Genet
; 58(11): 783-788, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32938693
4.
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
PLoS Genet
; 14(2): e1007243, 2018 02.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30635621
6.
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells.
Nucleic Acids Res
; 44(17): 8165-78, 2016 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-27257070
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23118352
9.
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
J Hum Genet
; 60(6): 287-93, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25809938
10.
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.
Nucleic Acids Res
; 41(4): 2171-9, 2013 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23295672
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23243085
13.
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
Hum Mol Genet
; 20(7): 1363-74, 2011 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21282187
14.
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
Nat Genet
; 36(9): 958-60, 2004 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-15314640
15.
Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Front Cell Dev Biol
; 11: 1237629, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37635873
16.
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer.
Cancers (Basel)
; 15(7)2023 Mar 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37046605
17.
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Cancers (Basel)
; 15(3)2023 Jan 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36765732
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35643636
19.
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C.
Genes (Basel)
; 12(5)2021 05 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34065128
20.
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
Genes (Basel)
; 12(4)2021 04 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33923683