The key role of epigenetics in human disease prevention and mitigation

AP Feinberg - New England Journal of Medicine, 2018 - Mass Medical Soc
Epigenetics in Disease Prevention and Mitigation Epigenetics is the regulation of gene
expression through alterations in DNA or associated factors (other than the DNA sequence) …

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …

F Brioude, JM Kalish, A Mussa, AC Foster… - Nat Rev …, 2018 - openaccess.sgul.ac.uk
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

The genetic changes of Wilms tumour

TD Treger, T Chowdhury, K Pritchard-Jones… - Nature Reviews …, 2019 - nature.com
Wilms tumour is the most common renal malignancy of childhood. The disease is curable in
the majority of cases, albeit at considerable cost in terms of late treatment-related effects in …

Retinoblastoma and neuroblastoma predisposition and surveillance

J Kamihara, F Bourdeaut, WD Foulkes… - Clinical Cancer …, 2017 - AACR
Retinoblastoma (RB) is the most common intraocular malignancy in childhood.
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …

[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome

KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …

Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma

JM Kalish, L Doros, LJ Helman, RC Hennekam… - Clinical Cancer …, 2017 - AACR
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …

IGF2: Development, Genetic and Epigenetic Abnormalities

C Sélénou, F Brioude, E Giabicani, ML Sobrier… - Cells, 2022 - mdpi.com
In the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2)
knockout mouse models, we have learnt much about the structure of this protein, its role and …

Overgrowth syndromes—evaluation, diagnosis, and management

J Manor, SR Lalani - Frontiers in Pediatrics, 2020 - frontiersin.org
Abnormally excessive growth results from perturbation of a complex interplay of genetic,
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …

[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

F Brioude, JM Kalish, A Mussa, AC Foster… - Nature Reviews …, 2018 - nature.com
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …

Genetic predisposition and chromosome instability in neuroblastoma

GP Tonini, M Capasso - Cancer and Metastasis Reviews, 2020 - Springer
Neuroblastoma (NB) is a pediatric tumor of embryonic origin. About 1–2% of all NBs are
familial cases, and genetic predisposition is suspected for the remaining cases. During the …