[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 …

Recent advances in imprinting disorders

L Soellner, M Begemann, DJG Mackay… - Clinical …, 2017 - Wiley Online Library
Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common
underlying (epi) genetic etiologies and overlapping clinical features affecting growth …

Pancreatic Tumors in Children: Radiologic-Pathologic Correlation1

EM Chung, MD Travis, RM Conran - Radiographics, 2006 - pubs.rsna.org
Pancreatic neoplasms are rare in children and have a different histologic spectrum and
prognosis than those in adults. In general, these tumors are well demarcated with expansile …

Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders

H Soejima, K Higashimoto - Journal of human genetics, 2013 - nature.com
Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential
expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains …

Cip/Kip cyclin‐dependent kinase inhibitors: brakes of the cell cycle engine during development

K Nakayama, K Nakayama - Bioessays, 1998 - Wiley Online Library
Precise control of cell‐cycle progression is believed to be critical for normal development,
while oncogenesis may be a direct result of its disturbance. Cell‐cycle progression is …

The genetic aetiology of Silver–Russell syndrome

S Abu-Amero, D Monk, J Frost, M Preece… - Journal of medical …, 2008 - jmg.bmj.com
Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine
and/or postnatal growth restriction and typical facies. However, the clinical picture is …

A survey of assisted reproductive technology births and imprinting disorders

S Bowdin, C Allen, G Kirby, L Brueton… - Human …, 2007 - academic.oup.com
BACKGROUND Genomic imprinting is an epigenetic process in which allele-specific gene
expression is dependent on the parental inheritance. Although only a minority of human …

Beckwith-Wiedemann syndrome: historical, clinicopathological, and etiopathogenetic perspectives

MM Cohen - Pediatric and Developmental Pathology, 2005 - Springer
Macroglossia, prenatal or postnatal overgrowth, and abdominal wall defects (omphalocele,
umbilical hernia, or diastasis recti) permit early recognition of Beckwith-Wiedemann …

Tumor risk in Beckwith–Wiedemann syndrome: A review and meta‐analysis

P Rump, MPA Zeegers… - American journal of …, 2005 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with
macroglossia, abdominal wall defects, ear anomalies, and an increased risk for embryonic …

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 …