Familial Beckwith‐Wiedemann syndrome in a multigenerational family: Forty years of careful phenotyping
LG Best, KA Duffy, AM George… - American Journal of …, 2023 - Wiley Online Library
Abstract Beckwith‐Wiedemann Spectrum (BWSp) is an overgrowth and cancer
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
predisposition disorder characterized by a wide spectrum of phenotypic manifestations …
[HTML][HTML] 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 …
[HTML][HTML] Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith–Wiedemann Syndrome Cell Lines
S Pileggi, EA Colombo, S Ancona, R Quadri… - International Journal of …, 2024 - mdpi.com
Beckwith–Wiedemann Syndrome (BWS) is an imprinting disorder characterized by
overgrowth, stemming from various genetic and epigenetic changes. This study delves into …
overgrowth, stemming from various genetic and epigenetic changes. This study delves into …
Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental …
S Berland, BI Haukanes, PB Juliusson… - Journal of Medical …, 2022 - jmg.bmj.com
Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Wiedemann syndrome (BWS), while gain-of-function variants in the gene's PCNA binding …
Identification of potential candidate genes for the Houyan trait in developing Wulong goose embryos by transcriptomic analysis
Y Xiao, J Liu, P Ren, X Zhou, S Zhang, Z Li… - British Poultry …, 2024 - Taylor & Francis
The Wulong goose is a Chinese breed and a source of high-quality meat and eggs. A
characteristic of the Wulong goose is that a proportion of the birds do not have eyelids …
characteristic of the Wulong goose is that a proportion of the birds do not have eyelids …
Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions …
S Collier, EM Wasilewska, R Craver - Fetal and Pediatric Pathology, 2024 - Taylor & Francis
Abstract Background Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that
exhibits etiologic genomic imprinting characterized by molecular heterogeneity and …
exhibits etiologic genomic imprinting characterized by molecular heterogeneity and …
Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype
D Brabbing-Goldstein, Y Yaron, A Reches - European Journal of Medical …, 2021 - Elsevier
We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre-and post-
natal intra-familial variability. Our first encounter with the family occurred in the 1990s …
natal intra-familial variability. Our first encounter with the family occurred in the 1990s …