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 …
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 …
[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 …
[HTML][HTML] Syndromic forms of congenital hyperinsulinism
M Zenker, K Mohnike, K Palm - Frontiers in endocrinology, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a
very heterogeneous condition and represents the most common cause of severe and …
very heterogeneous condition and represents the most common cause of severe and …
Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
A Gazzin, D Carli, F Sirchia, C Molinatto… - American Journal of …, 2019 - Wiley Online Library
Abstract Background Beckwith‐Wiedemann syndrome (BWS) phenotype usually mitigates
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
with age and data on adulthood are limited. Our study aims at reporting phenotype evolution …
Genetic predisposition to cancers in children and adolescents
Y Nakano, R Rabinowicz, D Malkin - Current Opinion in Pediatrics, 2023 - journals.lww.com
Genetic predisposition to cancers in children and adolescent... : Current Opinion in
Pediatrics Genetic predisposition to cancers in children and adolescents : Current Opinion …
Pediatrics Genetic predisposition to cancers in children and adolescents : Current Opinion …
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
A Mussa, KA Duffy, D Carli, JR Griff, R Fagiano… - Journal of cancer …, 2019 - Springer
Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS)
have a significantly higher risk of developing Wilms tumor (WT) than the general population …
have a significantly higher risk of developing Wilms tumor (WT) than the general population …