[HTML][HTML] Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

WN Cooper, A Luharia, GA Evans, H Raza… - European journal of …, 2005 - nature.com
Abstract Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …

Diagnosis of Beckwith–Wiedemann syndrome in children presenting with Wilms tumor

SP MacFarland, KA Duffy, TR Bhatti… - Pediatric blood & …, 2018 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth
and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS …

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 …

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

KA Duffy, CM Cielo, JL Cohen… - American Journal of …, 2019 - Wiley Online Library
Beckwith‐Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and
cancer predisposition disorder. Due to both varying molecular defects involving …

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 …

Screening hepatoblastoma in Beckwith-Wiedemann syndrome: a complex issue

A Mussa, GB Ferrero - Journal of Pediatric Hematology/Oncology, 2015 - journals.lww.com
Trobaugh-Lotrario et al 1 are to be congratulated on their detailed review of cases of
Beckwith-Wiedemann Syndrome (BWS) with hepatoblastoma. We think that details …

[HTML][HTML] (Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome

A Mussa, S Russo, A De Crescenzo, A Freschi… - European journal of …, 2016 - nature.com
Beckwith–Wiedemann syndrome (BWS) is characterized by cancer predisposition,
overgrowth and highly variable association of macroglossia, abdominal wall defects …

Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

F Brioude, R Hennekam, J Bliek, C Coze… - European Journal of …, 2018 - nature.com
Recently Brzezinski et al. reported three individuals with Beckwith–Wiedemann syndrome
(BWS) due to a loss of methylation at imprinting center 2 (IC2 LOM), who had intra …

(Epi) genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

A Mussa, S Russo, L Larizza, A Riccio… - Clinical …, 2016 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is the commonest overgrowth cancer predisposition
disorder and represents a model for human imprinting dysregulation and tumorigenesis …

The utility of alpha‐fetoprotein screening in Beckwith–Wiedemann syndrome

KA Duffy, MA Deardorff… - American Journal of …, 2017 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is one of the most common cancer predisposition
disorders. As a result, BWS patients receive tumor screening as part of their clinical …