Silver-Russell syndrome and Beckwith-Wiedemann syndrome: opposite phenotypes with heterogeneous molecular etiology
K Ounap - Molecular Syndromology, 2016 - karger.com
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically
opposite growth-affecting disorders belonging to the group of congenital imprinting …
opposite growth-affecting disorders belonging to the group of congenital imprinting …
Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician
A Teplick, M Kowalski, JA Biegel, KE Nichols - European journal of …, 2011 - Springer
Improvements in our understanding of the genetic basis of human disease and increased
utilization of genetic testing have identified a variety of heritable disorders associated with …
utilization of genetic testing have identified a variety of heritable disorders associated with …
Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines
J Brzezinski, C Shuman, S Choufani, P Ray… - European Journal of …, 2017 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …
Liver neoplasia in children
N Hadzic, MJ Finegold - Clinics in Liver Disease, 2011 - liver.theclinics.com
Routine use of ultrasonography in general pediatric practice, even following very mild and
nonspecific abdominal symptoms, has dramatically increased the detection of focal hepatic …
nonspecific abdominal symptoms, has dramatically increased the detection of focal hepatic …
The advantages and challenges of testing children for heritable predisposition to cancer
C Kesserwan, L Friedman Ross… - American Society of …, 2016 - ascopubs.org
The increased application of germline genetic testing is expanding our understanding of the
risk factors associated with childhood cancer development, and, in some cases, such testing …
risk factors associated with childhood cancer development, and, in some cases, such testing …
Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol
YA Zarate, R Mena, LJ Martin, P Steele… - American Journal of …, 2009 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) and isolated hemihyperplasia (IHH) are two well
known overgrowth conditions that are associated with cancer predisposition. Multiple …
known overgrowth conditions that are associated with cancer predisposition. Multiple …
Brain abnormalities in patients with Beckwith–Wiedemann syndrome
K Gardiner, D Chitayat, S Choufani… - American Journal of …, 2012 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder with variability in clinical
manifestations and molecular causes. In most cases, patients with BWS have normal …
manifestations and molecular causes. In most cases, patients with BWS have normal …
Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers
K van Engelen, M Barrera… - Pediatric Blood & …, 2021 - Wiley Online Library
Purpose Individuals with cancer predisposition syndromes (CPS) are often followed in
cancer screening programs, which aim to detect early stage tumors. While cancer …
cancer screening programs, which aim to detect early stage tumors. While cancer …
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L Faivre, JC Crépin, M Réda, S Nambot… - Clinical …, 2023 - Wiley Online Library
The PIK3CA‐related overgrowth spectrum (PROS) encompasses various conditions caused
by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various …
by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various …
Tumor screening in Beckwith–Wiedemann syndrome—To screen or not to screen?
JM Kalish, MA Deardorff - … Journal of Medical Genetics Part A, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the most common imprinting disorder and
consequently, one of the most common cancer predisposition disorders. Over the past 20 …
consequently, one of the most common cancer predisposition disorders. Over the past 20 …