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 …
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
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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
Summarize the treatment of omphalocele. Explain the importance of improving care …