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Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

Clinical epigenetics, 2018-02, Vol.10 (1), p.23-23, Article 23

2018

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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 research, 2016-09, Vol.44 (17), p.8165

2016

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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

Genetics in medicine, 2019-08, Vol.21 (8), p.1808-1820

2019

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A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

Genome medicine, 2019-12, Vol.11 (1), p.84-84, Article 84

2019

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

Human molecular genetics, 2012-01, Vol.21 (1), p.10-25

2012

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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

Human molecular genetics, 2013-02, Vol.22 (3), p.544-557

2013

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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Nature genetics, 2004-09, Vol.36 (9), p.958-960

2004

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Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer

Cancers, 2023-03, Vol.15 (7), p.1944

2023

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.611-619

2009

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Genes, 2021-04, Vol.12 (4), p.581

2021

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Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

PLoS genetics, 2018-02, Vol.14 (2), p.e1007243

2018

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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

Genes, 2021-05, Vol.12 (5), p.706

2021

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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

Journal of human genetics, 2015-06, Vol.60 (6), p.287-293

2015

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Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer

PloS one, 2008-03, Vol.3 (3), p.e1849-e1849

2008

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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Frontiers in cell and developmental biology, 2023-08, Vol.11, p.1237629-1237629

2023

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Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1

FEBS letters, 2013-05, Vol.587 (10), p.1474-1481

2013

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Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop

Nucleic acids research, 2013-02, Vol.41 (4), p.2171

2013

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Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

Archivos argentinos de pediatría, 2020-06, Vol.118 (3), p.e258-e264

2020

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The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

Human molecular genetics, 2005-02, Vol.14 (4), p.503-511

2005

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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

Human molecular genetics, 2021-07, Vol.30 (16), p.1509-1520

2021

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Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith―Wiedemann syndrome and Silver―Russell syndrome

Human molecular genetics, 2011-04, Vol.20 (7), p.1363-1374

2011

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Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Journal of medical genetics, 2021-11, Vol.58 (11), p.783

2021

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ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

Nucleic acids research, 2016-02, Vol.44 (3), p.1118

2016

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Is ZFP57 binding to H19/IGF2 :IG-DMR affected in Silver-Russell syndrome?

ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

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

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

DNA Methylation in the Diagnosis of Monogenic Diseases

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop

Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

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

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith―Wiedemann syndrome and Silver―Russell syndrome

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

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