Molecular genetics of Beckwith-Wiedemann syndrome

M Li, JA Squire, R Weksberg - Current opinion in pediatrics, 1997 - journals.lww.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder characterized by
developmental anomalies, tissue and organ hyperplasia, and an increased risk of …

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

KA Duffy, CM Cielo, JL Cohen… - American Journal of …, 2019 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and
cancer predisposition disorder. Due to both varying molecular defects involving …

[HTML][HTML] Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

J Brzezinski, C Shuman, S Choufani, P Ray… - European Journal of …, 2017 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Screening hepatoblastoma in Beckwith-Wiedemann syndrome: a complex issue

A Mussa, GB Ferrero - Journal of Pediatric Hematology/Oncology, 2015 - journals.lww.com
Trobaugh-Lotrario et al 1 are to be congratulated on their detailed review of cases of
Beckwith-Wiedemann Syndrome (BWS) with hepatoblastoma. We think that details …

Intrauterine growth and ultrasound findings in fetuses with Beckwith-Wiedemann syndrome

AC Ranzini, D Day-Salvatore, T Turner… - Obstetrics & …, 1997 - Elsevier
OBJECTIVE: To assess intrauterine growth in a series of nine fetuses diagnosed with
Beckwith-Wiedemann syndrome. METHODS: Infants confirmed postnatally to have Beckwith …

[HTML][HTML] Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

A Ibrahim, G Kirby, C Hardy, RP Dias, L Tee, D Lim… - Clinical …, 2014 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth
disorder with variable expressivity and a predisposition to tumorigenesis, results from …

Beckwith–Wiedemann syndrome: multiple molecular mechanisms

T Enklaar, BU Zabel, D Prawitt - Expert reviews in molecular …, 2006 - cambridge.org
Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth condition with an
increased risk of developing embryonic tumours, such as Wilms' tumour. The cardinal …

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

B Baskin, S Choufani, Y Chen, C Shuman, N Parkinson… - Human Genetics, 2014 - Springer
Abstract Beckwith–Wiedemann syndrome (BWS), an overgrowth and tumor predisposition
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …

Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques

J Tenorio, V Romanelli, A Martin‐Trujillo… - American journal of …, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an
excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia …