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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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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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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Human molecular genetics, 2014-11, Vol.23 (21), p.5763-5773

2014

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Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development

Human molecular genetics, 2003-04, Vol.12 (suppl-1), p.R61-R68

2003

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Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome

Human molecular genetics, 2001-07, Vol.10 (15), p.1601-1609

2001

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An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype

Human molecular genetics, 2004-01, Vol.13 (2), p.247-255

2004

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Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

Human molecular genetics, 2001-12, Vol.10 (26), p.2989-3000

2001

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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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Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

Human molecular genetics, 1993-05, Vol.2 (5), p.549-556

1993

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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Human molecular genetics, 2009-12, Vol.18 (24), p.4724-4733

2009

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Imprinting and assisted reproductive technology

Human molecular genetics, 2005-04, Vol.14 (suppl-1), p.R133-R138

Maher, Eamonn R

2005

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The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith–Wiedemann region

Human molecular genetics, 2009-11, Vol.18 (22), p.4255-4267

2009

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Sequence and functional comparison in the Beckwith-Wiedemann region : implications for a novel imprinting centre and extended imprinting

Human molecular genetics, 2000-11, Vol.9 (18), p.2691-2706

2000

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Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice

Human molecular genetics, 2013-11, Vol.22 (22), p.4627-4637

2013

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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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Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11

Human molecular genetics, 2016-04, Vol.25 (7), p.1406-1419

2016

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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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Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Human molecular genetics, 2010-03, Vol.19 (5), p.803-814

2010

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Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region

Human molecular genetics, 2014-12, Vol.23 (23), p.6246-6259

2014

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Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development: Disease and development

Human molecular genetics, 2003, Vol.12, p.R61-R68

2003

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Distant cis-elements regulate imprinted expression of the mouse p57Kip2 (Cdkn1c) gene: implications for the human disorder, Beckwith-Wiedemann syndrome

Human molecular genetics, 2001, Vol.10 (15), p.1601-1609

2001

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Distant cis-elements regulate imprinted expression of the mouse p57 Kip2 (Cdkn1c) gene: implications for the human disorder, Beckwith-Wiedemann syndrome

Human molecular genetics, 2001-07, Vol.10 (15), p.1601-1609

John, R. M.

2001

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Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

Human molecular genetics, 2000-05, Vol.9 (9), p.1321-1328

2000

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The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours

Human molecular genetics, 1993-12, Vol.2 (12), p.2089-2092

1993

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A human p57 super(KIP2) transgene is not activated by passage through the maternal mouse germline

Human molecular genetics, 1999-11, Vol.8 (12), p.2211-2219

1999

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

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

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development

Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome

An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1

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

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

Imprinting and assisted reproductive technology

The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith–Wiedemann region

Sequence and functional comparison in the Beckwith-Wiedemann region : implications for a novel imprinting centre and extended imprinting

Sox-Oct motifs contribute to maintenance of the unmethylated H19 ICR in YAC transgenic mice

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

Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11

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

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development: Disease and development

Distant cis-elements regulate imprinted expression of the mouse p57Kip2 (Cdkn1c) gene: implications for the human disorder, Beckwith-Wiedemann syndrome

Distant cis-elements regulate imprinted expression of the mouse p57 Kip2 (Cdkn1c) gene: implications for the human disorder, Beckwith-Wiedemann syndrome

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

The insulin-like growth factor 1 receptor gene is normally biallelically expressed in human juvenile tissue and tumours

A human p57 super(KIP2) transgene is not activated by passage through the maternal mouse germline

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