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 …
Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups
SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol
A Mussa, C Molinatto, G Baldassarre, E Riberi… - The Journal of …, 2016 - Elsevier
Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …
[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 …
Recommendations of the Scientific Committee of the Italian Beckwith–Wiedemann Syndrome Association on the diagnosis, management and follow-up of the …
A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth-
cancer predisposition disorder. Given the absence of consensual recommendations or …
cancer predisposition disorder. Given the absence of consensual recommendations or …
Disorders of the adrenal cortex: Genetic and molecular aspects
Adrenal cortex produces glucocorticoids, mineralocorticoids and adrenal androgens which
are essential for life, supporting balance, immune response and sexual maturation …
are essential for life, supporting balance, immune response and sexual maturation …
Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor
SP MacFarland, KA Duffy, TR Bhatti… - Pediatric blood & …, 2018 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth
and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS …
and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS …