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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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Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

Pediatrics (Evanston), 2017-07, Vol.140 (1)

2017

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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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Epigenetic Silencing of β-Spectrin, a TGF-β Signaling/Scaffolding Protein in a Human Cancer Stem Cell Disorder: BECKWITH-WIEDEMANN SYNDROME

The Journal of biological chemistry, 2010-11, Vol.285 (46), p.36112-36120

2010

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Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

The Journal of pediatrics, 2016-09, Vol.176, p.142-149.e1

2016

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LeFort III/I for Beckwith–Wiedemann Syndrome: A Case Report

The Cleft palate-craniofacial journal, 2023-10, Vol.60 (10), p.1342-1347

2023

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Anterior “W” Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome

The Cleft palate-craniofacial journal, 2022-09, Vol.59 (9), p.1145-1154

2022

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Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study

American journal of human genetics, 2004-09, Vol.75 (3), p.526-528

2004

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Another Preemie with Hypoglycemia? Beckwith-Wiedemann Syndrome--A Case Study

Neonatal network, 2015, Vol.34 (3), p.178

2015

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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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Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population‐based assessment in seven million children

Cancer, 2024-02, Vol.130 (3), p.467-475

2024

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Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (15), p.4618-4623

2015

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S3570 Beckwith-Wiedemann Syndrome: A Rare Presentation of Chronic Portal Vein Thrombosis with Cavernous Transformation Extending to the Superior Mesenteric Vein

The American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S2331-S2331

2023

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Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

American journal of human genetics, 2003-01, Vol.72 (1), p.156-160

2003

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Pancreatic surgery in infants with Beckwith–Wiedemann Syndrome and Hyperinsulinism

Journal of pediatric surgery, 2013-12, Vol.48 (12), p.2511-2516

2013

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In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

American journal of human genetics, 2003-05, Vol.72 (5), p.1338-1341

2003

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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 in a child with Chiari I malformation. Case report

Journal of neurosurgery, 2005-08, Vol.103 (2 Suppl), p.172

2005

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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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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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The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith–Wiedemann Syndrome

Current problems in pediatric and adolescent health care, 2015-04, Vol.45 (4), p.112-117

Pappas, John G., MD

2015

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Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Archives of disease in childhood, 2014-10, Vol.99 (10), p.965-967

2014

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

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

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

Epigenetic Silencing of β-Spectrin, a TGF-β Signaling/Scaffolding Protein in a Human Cancer Stem Cell Disorder: BECKWITH-WIEDEMANN SYNDROME

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

LeFort III/I for Beckwith–Wiedemann Syndrome: A Case Report

Anterior “W” Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

Another Preemie with Hypoglycemia? Beckwith-Wiedemann Syndrome--A Case Study

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

Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population‐based assessment in seven million children

Characterization of global loss of imprinting in fetal overgrowth syndrome induced by assisted reproduction

S3570 Beckwith-Wiedemann Syndrome: A Rare Presentation of Chronic Portal Vein Thrombosis with Cavernous Transformation Extending to the Superior Mesenteric Vein

Association of In Vitro Fertilization with Beckwith-Wiedemann Syndrome and Epigenetic Alterations of LIT1 and H19

Pancreatic surgery in infants with Beckwith–Wiedemann Syndrome and Hyperinsulinism

In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

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 in a child with Chiari I malformation. Case report

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

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

The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith–Wiedemann Syndrome

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

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