Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

January 8, 2022

Glioblastoma in Beckwith-Wiedemann syndrome: first case report and review of potential pathomechanisms.

Acta neurochirurgica
Peter WeirPaul Byrne
December 31, 2021

Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome.

NeoReviews
Mairead Bresnahan, Monica H Wojcik
December 25, 2021
Review
Open Access

Lateralized and Segmental Overgrowth in Children.

Cancers
Alessandro MussaNicoletta Resta
November 28, 2021
Review
Open Access

Epigenetic Mechanisms of ART-Related Imprinting Disorders: Lessons From iPSC and Mouse Models.

Genes
Alex HoránszkyAndrás Dinnyés
November 23, 2021
Open Access

Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis and Treatment.

Frontiers in Endocrinology
Emilia Modolo PintoRaul C Ribeiro
November 20, 2021
Case Report

Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome.

Taiwanese Journal of Obstetrics & Gynecology
Chih-Ping ChenWayseen Wang
November 20, 2021
Case Report

A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome.

Annali italiani di chirurgia
Martina GuerraNicolò de Manzini
October 27, 2021

Epigenetic mosaicism and cell burden in Beckwith-Wiedemann syndrome due to loss of methylation at imprinting control region 2.

Cold Spring Harbor Molecular Case Studies
Kelly A DuffyJennifer M Kalish
October 7, 2021

Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.

Cold Spring Harbor Molecular Case Studies
Siren BerlandBjørn I Haukanes
September 29, 2021

Ocular manifestations of Beckwith-Wiedemann syndrome.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Landon J RohowetzAudina M Berrocal
September 25, 2021
Case Report

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?

Clinical Dysmorphology
Laura CazzanigaAngelo Selicorni
September 20, 2021
Comment / Editorial
Open Access

Editorial: Epigenetic Mechanisms and Their Involvement in Rare Diseases.

Frontiers in Genetics
Mojgan Rastegar, Dag H Yasui
September 13, 2021
Open Access

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Molecular Genetics & Genomic Medicine
Hela SassiLamia BenJemaa

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