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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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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Human molecular genetics, 2008-05, Vol.17 (10), p.1427-1435

2008

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Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

Human reproduction (Oxford), 2009-03, Vol.24 (3), p.741-747

2009

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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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Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

Human molecular genetics, 2002-05, Vol.11 (11), p.1317-1325

2002

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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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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Human molecular genetics, 2007-02, Vol.16 (3), p.254-264

2007

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A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects

The journal of clinical endocrinology and metabolism, 2015-11, Vol.100 (11), p.3963-3966

2015

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Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain

Human molecular genetics, 1995-12, Vol.4 (12), p.2379-2385

1995

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A review of known imprinting syndromes and their association with assisted reproduction technologies

Human reproduction (Oxford), 2008-12, Vol.23 (12), p.2826-2834

2008

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Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

Human reproduction (Oxford), 2012-08, Vol.27 (8), p.2541-2548

2012

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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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Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic Beckwith-Wiedemann Syndrome

Human molecular genetics, 1997-09, Vol.6 (9), p.1543-1548

1997

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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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Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium Channels

The journal of clinical endocrinology and metabolism, 2005-07, Vol.90 (7), p.4376-4382

2005

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Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology

Human reproduction update, 2004-01, Vol.10 (1), p.3-18

2004

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Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome

Human molecular genetics, 1994-08, Vol.3 (8), p.1297-1301

1994

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Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise : A report of 11 new cases and a review of the literature

American journal of clinical pathology, 2006-07, Vol.126 (1), p.67-78

2006

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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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Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation : Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

Human molecular genetics, 2001-03, Vol.10 (5), p.467-476

2001

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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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Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Human reproduction (Oxford), 2006-04, Vol.21 (4), p.1009-1011

2006

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

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour

Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies

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

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome

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

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain

A review of known imprinting syndromes and their association with assisted reproduction technologies

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

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

Imprinting of IGF2 and H19: Lack of Reciprocity in Sporadic 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

Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium Channels

Potential significance of genomic imprinting defects for reproduction and assisted reproductive technology

Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome

Placental mesenchymal dysplasia is associated with high rates of intrauterine growth restriction and fetal demise : A report of 11 new cases and a review of the literature

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

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation : Occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

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

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

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