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 …
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 …
Phenotype, cancer risk, and surveillance in Beckwith–Wiedemann syndrome depending on molecular genetic subgroups
SM Maas, F Vansenne, DJM Kadouch… - American journal of …, 2016 - Wiley Online Library
Patients with Beckwith–Wiedemann syndrome (BWS) have an increased risk to develop
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
cancer in childhood, especially Wilms tumor and hepatoblastoma. The risk varies depending …
Beckwith–wiedemann syndrome
R Weksberg, C Shuman… - American Journal of …, 2005 - Wiley Online Library
Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome
associated with an increased risk for embryonal tumor development. BWS provides an ideal …
associated with an increased risk for embryonal tumor development. BWS provides an ideal …
[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 …
events involving imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental …
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review
P Lapunzina - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the
main characteristic is that either weight, height, or head circumference is 2–3 standard …
main characteristic is that either weight, height, or head circumference is 2–3 standard …
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 …
[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 …
Tumor predisposition in Costello syndrome
KW Gripp - American Journal of Medical Genetics Part C …, 2005 - Wiley Online Library
Costello syndrome (CS) is a rare congenital anomaly syndrome. Although it may be
classified as an “overgrowth” syndrome due to slightly increased birth weight and relative …
classified as an “overgrowth” syndrome due to slightly increased birth weight and relative …
Management and etiology of the unilateral multicystic dysplastic kidney: a review
DS Hains, CM Bates, S Ingraham, AL Schwaderer - Pediatric nephrology, 2009 - Springer
In children, unilateral multicystic dysplastic kidney (MCDK) is one of the most frequently
identified urinary tract abnormalities. A variety of proposed etiologies has been associated …
identified urinary tract abnormalities. A variety of proposed etiologies has been associated …