Hypercortisolism due to a pituitary adenoma associated with Beckwith-Wiedemann syndrome
F Brioude, C Nicolas, I Marey, S Gaillard… - Hormone Research in …, 2016 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with an
increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region …
increased risk of cancer. Most BWS patients show a molecular defect in the 11p15 region …
Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance
F Brioude, A Lacoste, I Netchine, MP Vazquez… - Hormone research in …, 2014 - karger.com
Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …
with an increased risk of pediatric tumors. The underlying molecular abnormalities may be …
Management of adrenal masses in patients with Beckwith–Wiedemann syndrome
SP MacFarland, S Mostoufi‐Moab… - Pediatric blood & …, 2017 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition
syndrome, associated with both benign and malignant adrenal findings. Literature review …
syndrome, associated with both benign and malignant adrenal findings. Literature review …
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 …
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith–Wiedemann syndrome
HY Lin, CK Chuang, RY Tu, YY Fang, YN Su… - Molecular Genetics and …, 2016 - Elsevier
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth
disorder predisposing to tumorigenesis that results from abnormal expression or function of …
disorder predisposing to tumorigenesis that results from abnormal expression or function of …
Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
HM Luk - Journal of Pediatric Endocrinology and Metabolism, 2017 - degruyter.com
Background: The objective of this study was to examine the clinical and molecular features,
genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting …
genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting …
Novel deletion in 11p15. 5 imprinting center region 1 in a patient with Beckwith–Wiedemann syndrome provides insight into distal enhancer regulation and …
N Bachmann, R Crazzolara, F Bohne… - Pediatric Blood & …, 2017 - Wiley Online Library
Abstract Background Beckwith–Wiedemann syndrome (BWS) is an early‐onset overgrowth
disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of …
disorder with a high risk for embryonal tumors. It is mainly caused by dysregulation of …
[HTML][HTML] Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Abstract Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is
characterized by phenotypic variability that might include overgrowth, macroglossia …
characterized by phenotypic variability that might include overgrowth, macroglossia …
[HTML][HTML] Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor
DH Ben-Brahim, S Hammami, MH Mastouri… - Applied & Translational …, 2015 - Elsevier
Beckwith–Wiedemann syndrome has a wide spectrum of complications such as embryonal
tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging …
tumors, namely adrenocortical tumor. Tumor predisposition is one of the most challenging …