Rhabdomyosarcoma

SX Skapek, A Ferrari, AA Gupta, PJ Lupo… - Nature reviews disease …, 2019 - nature.com
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and
represents a high-grade neoplasm of skeletal myoblast-like cells. Decades of clinical and …

Childhood cancer predisposition syndromes—a concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric …

T Ripperger, SS Bielack, A Borkhardt… - American journal of …, 2017 - Wiley Online Library
Heritable predisposition is an important cause of cancer in children and adolescents.
Although a large number of cancer predisposition genes and their associated syndromes …

Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi) genotype specific histotype targeted screening protocol

A Mussa, C Molinatto, G Baldassarre, E Riberi… - The Journal of …, 2016 - Elsevier
Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular
subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control …

[HTML][HTML] The genetic and molecular mechanisms of congenital hyperinsulinism

S Galcheva, H Demirbilek, S Al-Khawaga… - Frontiers in …, 2019 - frontiersin.org
Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the
unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic …

Bone age: a handy tool for pediatric providers

AL Creo, WF Schwenk - Pediatrics, 2017 - publications.aap.org
Pediatricians have relied on methods for determining skeletal maturation for> 75 years.
Bone age continues to be a valuable tool in assessing children's health. New technology for …

A review of known imprinting syndromes and their association with assisted reproduction technologies

DJ Amor, J Halliday - Human Reproduction, 2008 - academic.oup.com
An association between assisted reproduction technologies (ART) and abnormal genomic
imprinting in humans has been recognized for several years; however, the magnitude of this …

[HTML][HTML] Overgrowth syndromes—evaluation, diagnosis, and management

J Manor, SR Lalani - Frontiers in Pediatrics, 2020 - frontiersin.org
Abnormally excessive growth results from perturbation of a complex interplay of genetic,
epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes …

Children's Oncology Group's 2013 blueprint for research: renal tumors

JS Dome, CV Fernandez, EA Mullen… - Pediatric blood & …, 2013 - Wiley Online Library
Renal malignancies are among the most prevalent pediatric cancers. The most common is
favorable histology Wilms tumor (FHWT), which has 5‐year overall survival exceeding 90 …

(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 …

Large offspring syndrome: a bovine model for the human loss-of-imprinting overgrowth syndrome Beckwith-Wiedemann

Z Chen, KM Robbins, KD Wells, RM Rivera - Epigenetics, 2013 - Taylor & Francis
Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily
characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been …