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 …
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 …
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 …
(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 …
[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 …
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
Background PADI6 is a component of the subcortical maternal complex, a group of proteins
that is abundantly expressed in the oocyte cytoplasm, but is required for the correct …
that is abundantly expressed in the oocyte cytoplasm, but is required for the correct …
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 …
Pediatric renal tumor epidemiology: Global perspectives, progress, and challenges
J Libes, J Hol, JCA Neto, KL Vallance… - Pediatric blood & …, 2023 - Wiley Online Library
Pediatric renal tumors account for 3%–11% of childhood cancers, the most common of
which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer …
which is Wilms tumor or nephroblastoma. Epidemiology plays a key role in cancer …