Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
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 …
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 …
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 …
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
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
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 …
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 …
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 …
fetoprotein measurement for hepatoblastoma (HB) screening up to 4 years of age …
Proteomic insights into paediatric cancer: Unravelling molecular signatures and therapeutic opportunities
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 …
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 …
patients with Beckwith-Wiedemann spectrum (BWSp), to better predict the risk for …