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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.
Article
in English
| MEDLINE | ID: mdl-38453481
2.
Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.
Nat Rev Genet
; 20(4): 235-248, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30647469
3.
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.
Article
in English
| MEDLINE | ID: mdl-34132339
4.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35842840
5.
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.
Article
in English
| MEDLINE | ID: mdl-32938693
6.
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
PLoS Genet
; 14(2): e1007243, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29470501
7.
Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.
Trends Genet
; 32(7): 444-455, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27235113
8.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.
Genet Med
; 21(8): 1808-1820, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30635621
9.
In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions.
Mol Cell
; 44(3): 361-72, 2011 Nov 04.
Article
in English
| MEDLINE | ID: mdl-22055183
10.
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.
Article
in English
| MEDLINE | ID: mdl-27621468
11.
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.
Article
in English
| MEDLINE | ID: mdl-27257070
12.
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.
Article
in English
| MEDLINE | ID: mdl-26481358
13.
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.
J Pediatr
; 176: 142-149.e1, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27372391
14.
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.
Article
in English
| MEDLINE | ID: mdl-23118352
15.
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
BMC Med Genet
; 16: 69, 2015 Aug 23.
Article
in English
| MEDLINE | ID: mdl-26297663
16.
A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
BMC Med Genet
; 16: 30, 2015 May 06.
Article
in English
| MEDLINE | ID: mdl-25943194
17.
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
J Hum Genet
; 60(6): 287-93, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-25809938
18.
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.
Article
in English
| MEDLINE | ID: mdl-23295672
19.
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.
Article
in English
| MEDLINE | ID: mdl-21920939
20.
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 164A(1): 182-5, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24214456