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 …
[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 …
Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15
AC Smith, C Shuman, D Chitayat… - American Journal of …, 2007 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by
macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS …
macrosomia, macroglossia, omphalocele, hemihyperplasia, and increased tumor risk. BWS …
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 …
Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?
JM Kalish, MA Deardorff - … Journal of Medical Genetics Part A, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common imprinting disorder and
consequently, one of the most common cancer predisposition disorders. Over the past 20 …
consequently, one of the most common cancer predisposition disorders. Over the past 20 …
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
S Cöktü, C Spix, M Kaiser, J Beygo, S Kleinle… - British Journal of …, 2020 - nature.com
Abstract Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …
syndrome caused by defects on chromosome 11p15. 5. The quantitative cancer risks in …
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance
F Brioude, A Lacoste, I Netchine, MP Vazquez… - Hormone research in …, 2014 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …
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 …
Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of …
R Weksberg, J Nishikawa, O Caluseriu… - Human molecular …, 2001 - academic.oup.com
Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with …
Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects
A Ibrahim, G Kirby, C Hardy, RP Dias, L Tee, D Lim… - Clinical …, 2014 - Springer
Abstract Background Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth
disorder with variable expressivity and a predisposition to tumorigenesis, results from …
disorder with variable expressivity and a predisposition to tumorigenesis, results from …