Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism
EA Calton, IK Temple, DJG Mackay, M Lever… - European Journal of …, 2013 - Elsevier
Hepatoblastoma is a tumour of early childhood occurring in association with genetic
syndromes including Beckwith–Wiedemann Syndrome (BWS) which results from dominance …
syndromes including Beckwith–Wiedemann Syndrome (BWS) which results from dominance …
The significance of molecular studies in the long-term follow-up of children with Beckwith-Wiedemann syndrome
M Gizewska, M Wilk, M Patalan, D Mackay… - The Turkish Journal …, 2014 - turkjpediatr.org
Beckwith-Wiedemann syndrome (BWS) is a congenital disorder of imprinting caused by
epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical …
epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical …
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome
B Baskin, S Choufani, Y Chen, C Shuman, N Parkinson… - Human Genetics, 2014 - Springer
Abstract Beckwith–Wiedemann syndrome (BWS), an overgrowth and tumor predisposition
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
syndrome is clinically heterogeneous. Its variable presentation makes molecular diagnosis …
New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
AC Smith, T Rubin, C Shuman, L Estabrooks… - … and Genome Research, 2006 - karger.com
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome demonstrating
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
heterogeneous molecular alterations of two imprinted domains on chromosome 11p15. The …
Genetics of Beckwith‐Wiedemann syndrome‐associated tumors: common genetic pathways
M Steenman, A Westerveld… - Genes, Chromosomes …, 2000 - Wiley Online Library
A specific subset of solid childhood tumors—Wilms' tumor, adrenocortical carcinoma,
rhabdomyosarcoma, and hepatoblastoma—is characterized by its association with Beckwith …
rhabdomyosarcoma, and hepatoblastoma—is characterized by its association with Beckwith …
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15. 5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
A Urzua, S Burattini, C Pinochet… - Journal of Pediatric …, 2019 - thieme-connect.com
Beckwith–Wiedemann syndrome (BWS) is characterized by overgrowth and increased risk
of embryonic tumors. It results from alterations in genes controlled by imprinting centers …
of embryonic tumors. It results from alterations in genes controlled by imprinting centers …
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
M Calvello, S Tabano, P Colapietro, S Maitz, A Pansa… - Epigenetics, 2013 - Taylor & Francis
Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
predisposition to embryonal tumors. BWS is caused by various epigenetic and/or genetic …
Favorable outcome in children with Beckwith-Wiedeman syndrome and intraabdominal malignant tumors
WG Vaughan, DW Sanders, JL Grosfeld… - Journal of pediatric …, 1995 - Elsevier
Children with Beckwith-Wiedemann syndrome (BWS) have an increased risk of developing
Wilms' tumors, hepatoblastomas, and adrenal tumors. This study evaluates disease-free …
Wilms' tumors, hepatoblastomas, and adrenal tumors. This study evaluates disease-free …
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
SW Baker, KA Duffy, J Richards-Yutz… - Journal of medical …, 2021 - jmg.bmj.com
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
Tumor screening in Beckwith-Wiedemann syndrome: parental perspectives
KA Duffy, KL Grand, K Zelley, JM Kalish - Journal of genetic counseling, 2018 - Springer
Abstract Children with Beckwith-Wiedemann Syndrome (BWS) and Isolated
Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in …
Hemihypertrophy (IHH) are at an increased risk for developing tumors. Tumor screening in …