Overgrowth syndromes—clinical and molecular aspects and tumour risk

F Brioude, A Toutain, E Giabicani, E Cottereau… - Nature Reviews …, 2019 - nature.com
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …

Molecular basis of Beckwith–Wiedemann syndrome spectrum with associated tumors and consequences for clinical practice

T Eggermann, ER Maher, CP Kratz, D Prawitt - Cancers, 2022 - mdpi.com
Simple Summary Beckwith–Wiedemann syndrome (BWS, OMIM 130650) is an inborn
overgrowth disorder caused by molecular alterations in chromosome 11p15. 5. These …

Modeling human epigenetic disorders in mice: Beckwith-Wiedemann syndrome and Silver-Russell syndrome

S Chang, MS Bartolomei - Disease models & mechanisms, 2020 - journals.biologists.com
Genomic imprinting, a phenomenon in which the two parental alleles are regulated
differently, is observed in mammals, marsupials and a few other species, including seed …

The role of long non-coding rnas in human imprinting disorders: prospective therapeutic targets

T Wang, J Li, L Yang, M Wu, Q Ma - Frontiers in Cell and …, 2021 - frontiersin.org
Genomic imprinting is a term used for an intergenerational epigenetic inheritance and
involves a subset of genes expressed in a parent-of-origin-dependent way. Imprinted genes …

The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

A Mussa, KA Duffy, D Carli, JR Griff, R Fagiano… - Journal of cancer …, 2019 - Springer
Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS)
have a significantly higher risk of developing Wilms tumor (WT) than the general population …

Characteristics associated with tumor development in individuals diagnosed with Beckwith–Wiedemann spectrum: Novel tumor-(epi) genotype-phenotype …

KA Duffy, KD Getz, ER Hathaway, ME Byrne… - Genes, 2021 - mdpi.com
Beckwith–Wiedemann Spectrum (BWSp) is the most common epigenetic childhood cancer
predisposition disorder. BWSp is caused by (epi) genetic changes affecting the BWS critical …

Epimutation in inherited metabolic disorders: the influence of aberrant transcription in adjacent genes

JL Guéant, Y Siblini, C Chéry, G Schmitt… - Human genetics, 2022 - Springer
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA
methylation, in which epigenome alterations are directly involved in the underlying …

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 …

Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

H Sassi, Y Elaribi, H Jilani, I Rejeb… - … Genetics & Genomic …, 2021 - Wiley Online Library
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth
syndrome characterized by congenital malformations and predisposition to embryonic …

[HTML][HTML] Omphalocele

T Zahouani, MD Mendez - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Objectives: Review the etiology of omphalocele. Describe the presentation of omphalocele.
Summarize the treatment of omphalocele. Explain the importance of improving care …