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 …

[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome

KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma

JM Kalish, L Doros, LJ Helman, RC Hennekam… - Clinical Cancer …, 2017 - AACR
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …

[HTML][HTML] Overgrowth syndromes—evaluation, diagnosis, and management

J Manor, SR Lalani - Frontiers in Pediatrics, 2020 - frontiersin.org
Abnormally excessive growth results from perturbation of a complex interplay of genetic,
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …

[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

F Brioude, JM Kalish, A Mussa, AC Foster… - Nature Reviews …, 2018 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

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] Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …

KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …

Defining an optimal time window to screen for hepatoblastoma in children with Beckwith‐Wiedemann syndrome

A Mussa, KA Duffy, D Carli, GB Ferrero… - Pediatric blood & …, 2019 - Wiley Online Library
Abstract Patients with Beckwith‐Wiedemann spectrum (BWSp) undergo quarterly alpha‐
fetoprotein measurement for hepatoblastoma (HB) screening up to 4 years of age …

Proteomic insights into paediatric cancer: Unravelling molecular signatures and therapeutic opportunities

BD Padhye, U Nawaz, PG Hains… - Pediatric Blood & …, 2024 - Wiley Online Library
Survival rates in some paediatric cancers have improved greatly over recent decades, in
part due to the identification of diagnostic, prognostic and predictive molecular signatures …

Development of the serum α-fetoprotein reference range in patients with beckwith-wiedemann spectrum

KA Duffy, JL Cohen, OU Elci, JM Kalish - The Journal of pediatrics, 2019 - Elsevier
Objective To establish reference ranges for serum α-fetoprotein (AFP) at various ages in
patients with Beckwith-Wiedemann spectrum (BWSp), to better predict the risk for …