Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
LCA Cardoso, A Parra, CR Gil, P Arias, N Gallego… - Cancers, 2022 - mdpi.com
Simple Summary Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused
by imprinting or genetic alterations at the 11p15. 5 locus. BWS is considered a spectrum …
by imprinting or genetic alterations at the 11p15. 5 locus. BWS is considered a spectrum …
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 …
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
SW Baker, KA Duffy, J Richards-Yutz… - Journal of medical …, 2021 - jmg.bmj.com
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
(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 …
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia,
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular …
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
B Baskin, S Choufani, Y Chen, C Shuman, N Parkinson… - Human Genetics, 2014 - Springer
Abstract Beckwith–Wiedemann syndrome (BWS), an overgrowth and tumor predisposition
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
Imprinting status of 11p15 genes in Beckwith–Wiedemann syndrome patients with CDKN1C mutations
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder characterized by somatic
overgrowth, congenital malformations, and predisposition to childhood tumors. Aberrant …
overgrowth, congenital malformations, and predisposition to childhood tumors. Aberrant …
Molecular basis of Beckwith–Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice
Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …
Introduction to the Beckwith–Wiedemann Syndrome and Cancer Special Issue
A Mussa, JM Kalish - Cancers, 2023 - mdpi.com
Beckwith–Wiedemann syndrome (BWS) is a genetic imprinting disorder that most commonly
presents as overgrowth, macroglossia, abdominal wall defects, lateralized overgrowth, and …
presents as overgrowth, macroglossia, abdominal wall defects, lateralized overgrowth, and …
Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C
A Sparago, F Cerrato, L Pignata, F Cammarata-Scalisi… - Genes, 2021 - mdpi.com
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by prenatal
and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor …
and/or postnatal overgrowth, organomegaly, abdominal wall defects and tumor …