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 …
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 …
Although a large number of cancer predisposition genes and their associated syndromes …
The genetic changes of Wilms tumour
TD Treger, T Chowdhury, K Pritchard-Jones… - Nature Reviews …, 2019 - nature.com
Wilms tumour is the most common renal malignancy of childhood. The disease is curable in
the majority of cases, albeit at considerable cost in terms of late treatment-related effects in …
the majority of cases, albeit at considerable cost in terms of late treatment-related effects in …
Retinoblastoma and neuroblastoma predisposition and surveillance
J Kamihara, F Bourdeaut, WD Foulkes… - Clinical Cancer …, 2017 - AACR
Retinoblastoma (RB) is the most common intraocular malignancy in childhood.
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …
Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the …
Surveillance recommendations for children with overgrowth syndromes and predisposition to Wilms tumors and hepatoblastoma
JM Kalish, L Doros, LJ Helman, RC Hennekam… - Clinical Cancer …, 2017 - AACR
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT),
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …
hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes …
[HTML][HTML] Diagnosis and management of Beckwith-Wiedemann syndrome
KH Wang, J Kupa, KA Duffy, JM Kalish - Frontiers in pediatrics, 2020 - frontiersin.org
Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
presents with a wide spectrum of clinical features including overgrowth, abdominal wall …
Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome
METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the
general demographic data and corresponding regional ART registry. RESULTS: Between …
general demographic data and corresponding regional ART registry. RESULTS: Between …
[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 …
[HTML][HTML] Genetic predisposition to neuroblastoma
EK Barr, MA Applebaum - Children, 2018 - mdpi.com
Neuroblastoma is the most common solid tumor in children under the age of one. It displays
remarkable phenotypic heterogeneity, resulting in differences in outcomes that correlate with …
remarkable phenotypic heterogeneity, resulting in differences in outcomes that correlate with …
Overgrowth syndromes—clinical and molecular aspects and tumour risk
F Brioude, A Toutain, E Giabicani, E Cottereau… - Nature Reviews …, 2019 - nature.com
Overgrowth syndromes are a heterogeneous group of rare disorders characterized by
generalized or segmental excessive growth commonly associated with additional features …
generalized or segmental excessive growth commonly associated with additional features …