Therapeutic approaches to imprinting diseases

H Sassi, LG Rousseau, J Grill, E Rouleau - Epigenetics in Human Disease, 2024 - Elsevier
Genomic imprinting disorders are rare diseases that arise from the disruption of genetic or
epigenetic mechanisms, within monoallelic expressed genes from a parental-specific allele …

[PDF][PDF] Pediatric adrenal incidentaloma.

MC Dumitrascu, AE Ghenea… - Romanian Journal …, 2021 - pdfs.semanticscholar.org
The term of “incidentaloma” involves multiple disciplines of the medicine, especially on the
era of modern medicine with massive progress of investigations tools that increased the …

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum

CT Lee, YC Tung, WL Hwu, JC Shih… - American Journal of …, 2019 - Wiley Online Library
Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case
in which Beckwith‐Wiedemann syndrome (BWS) was first suspected because of placental …

[HTML][HTML] A case series of clinical characteristics and prognosis of congenital hepatoblastoma in a single center

J Xu, X Chang, H Qin, W Yang, H Cheng… - International Journal of …, 2024 - Elsevier
Introduction and importance Congenital hepatoblastoma is an exceedingly rare neoplasm,
predominantly documented as isolated instances, with contentious aspects surrounding its …

[HTML][HTML] A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome

Y Takeuchi, S Inoue, Y Muta, K Kawaguchi… - International Journal of …, 2024 - Elsevier
Abstract Introduction Beckwith–Wiedemann syndrome (BWS) manifests distinctive features,
such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a …

[PDF][PDF] 1 例Beckwith-Wiedemann 综合征儿童的诊断及随访管理并文献复习

张京慧, 童笑梅, 张娟, 常艳美 - 中国生育健康杂志, 2023 - 202.112.180.49
本文报道一例Beckwith Wiedemann 综合征(BWs) 患儿. 该患儿为孕35+ 1 周早产女婴,
试管婴儿, 出生体重2760g. 特殊体征: 舌体大, 双耳切迹, 面部火焰状红斑, 双下肢长度不等 …

Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

GC Ma, TH Chen, WJ Wu, DJ Lee, WH Lin, M Chen - Diagnostics, 2022 - mdpi.com
Background: Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genetically
heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome …

[HTML][HTML] Hepatoblastoma in an extremely low birth-weight infant with Beckwith–Wiedemann syndrome

Y Kawasaki, M Makimoto, A Samejima, N Yoneda… - Pediatrics & …, 2018 - Elsevier
3. Discussion We describe a report of hepatoblastoma in an ELBWI with BWS. The clinical
course of this patient indicated two important clinical issues. First, we should be cautious of …

Does Beckwith-Wiedemann syndrome require intensive Wilms tumour surveillance?

CP McGrath, MA Boyle - Archives of Disease in Childhood, 2021 - adc.bmj.com
A term boy is admitted to neonatal intensive care unit on day 1 of life for respiratory distress
syndrome requiring continuous positive airway pressure. His birth weight is 3.86 kg at 37 …

Expanded phenotype and cancer risk in patients with Beckwith–Wiedemann spectrum caused by CDKN1C variants

AM George, A Viswanathan, LG Best… - American Journal of … - Wiley Online Library
Abstract Beckwith–Wiedemann spectrum (BWSp) is caused by genetic and epigenetic
alterations on chromosome 11 that regulate cell growth and division. Considering the …