[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 …
Genomic landscape of paediatric adrenocortical tumours
Paediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here we
analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or …
analyse 37 adrenocortical tumours (ACTs) by whole-genome, whole-exome and/or …
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 …
Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome
METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the
general demographic data and corresponding regional ART registry. RESULTS: Between …
general demographic data and corresponding regional ART registry. RESULTS: Between …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …
overgrowth and highly variable association of macroglossia, abdominal wall defects …
Prevalence of Beckwith–Wiedemann syndrome in north west of Italy
A Mussa, S Russo, A De Crescenzo… - American journal of …, 2013 - Wiley Online Library
ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM# 130650) is the most
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates …
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 …
(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine
Beckwith–Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition
disorder and represents a model for human imprinting dysregulation and tumorigenesis …
disorder and represents a model for human imprinting dysregulation and tumorigenesis …