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 …
The promise of epigenetic therapy: reprogramming the cancer epigenome
Epigenetics refers to heritable molecular determinants of phenotype independent of DNA
sequence. Epigenetic features include DNA methylation, histone modifications, non-coding …
sequence. Epigenetic features include DNA methylation, histone modifications, non-coding …
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] The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes
The complexity of the human brain emerges from a long and finely tuned developmental
process orchestrated by the crosstalk between genome and environment. Vis à vis other …
process orchestrated by the crosstalk between genome and environment. Vis à vis other …
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 …
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
Macrocephaly: solving the diagnostic dilemma
Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric
population. It is defined as an abnormally large head with an occipitofrontal circumference …
population. It is defined as an abnormally large head with an occipitofrontal circumference …
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 …